Improving primary care identification of familial breast cancer risk using proactive invitation and decision support - Nadeem Qureshi; Brittany Dutton; Stephen Weng; Christina Sheehan; Wendy Chorley; John F. R. Robertson; Denise Kendrick; Joe Kai (Familial Cancer, 2021)
Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In four randomly-assigned practices, women were invited to complete a validated, postal family history questionnaire, which practice staff inputted into decision support software to determine cancer risk. Those with increased risk were offered specialist referral. Usual care was observed in the other four practices. In intervention practices, 1127/7012 women (16.1%) returned family history questionnaires, comprising 1105 (98%) self-reported white ethnicity and 446 (39.6%) educated to University undergraduate or equivalent qualification, with 119 (10.6%) identified at increased breast cancer risk and offered referral. Sixty-seven (56%) women recommended referral were less than 50 years old. From 66 women attending specialists, 26 (39.4%) were confirmed to have high risk and recommended annual surveillance (40–60 years) and surgical prevention; while 30 (45.5%) were confirmed at moderate risk, with 19 offered annual surveillance (40–50 years). The remaining 10 (15.2%) managed in primary care. None were recommended chemoprevention. In usual care practices, only ten women consulted with concerns about breast cancer family history. This study demonstrated proactive risk assessment in primary care enables accurate identification of women, including many younger women, at increased risk of breast cancer. To improve generalisability across the population, more active methods of engagement need to be explored. Trial registration: CRUK Clinical Trials Database 11779.

Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD) - Toni T. Seppälä; Mev Dominguez-Valentin; Julian R. Sampson; Pål Møller (Familial Cancer, 2021)
The Prospective Lynch Syndrome Database (PLSD) has been developed as an international, multicentre, prospective, observational study that aims to provide age and organ-specific cancer risks according to gene and gender, estimates of survival after cancer and information on the effects of interventions. Recent reports from PLSD provided improved estimates of cancer risks and survival and showed that different time intervals between surveillance colonoscopies did not affect the incidence, stage or prognosis of colorectal cancer. The PLSD reports suggest that current management guidelines for Lynch syndrome should be revised in light of the different gene and gender-specific cancer risks and the good prognosis for the most commonly associated cancers. In this review, we describe the discrepancies between the current management guidelines for Lynch Syndrome and the most recent prospective observational studies, indicating the areas of further research.

Chemoprevention in familial adenomatous polyposis: past, present and future - Phillip M. Kemp Bohan; Gautam Mankaney; Timothy J. Vreeland; Robert C. Chick; Diane F. Hale; Jessica L. Cindass; Annelies T. Hickerson; Daniel C. Ensley; Vance Sohn; G. Travis Clifton; George E. Peoples; Carol A. Burke (Familial Cancer, 2021)

Germline variants discovered in lymphoma patients undergoing tumor profiling: a case series - Anthony J. Scott; Molly C. Tokaz; Michelle F. Jacobs; Arul M. Chinnaiyan; Tycel J. Phillips; Ryan A. Wilcox (Familial Cancer, 2021)

Two cases of somatic STK11 mosaicism in Danish patients with Peutz–Jeghers syndrome - Anne Marie Jelsig; Birgitte Bertelsen; Isabel Forss; John Gásdal Karstensen (Familial Cancer, 2021)

Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue - Valeriya I. Ni; Alexandr O. Ivantsov; Mariya A. Kotkova; Sofia V. Baskina; Elena V. Ponomareva; Rashida V. Orlova; Eldar E. Topuzov; Kirill K. Kryukov; Kseniya V. Shelekhova; Svetlana N. Aleksakhina; Anna P. Sokolenko; Evgeny N. Imyanitov (Familial Cancer, 2021)

Low accuracy of self-reported family history of melanoma in high-risk patients - Nicholas D. Flint; Michael D. Bishop; Tristan C. Smart; Jennifer L. Strunck; Kenneth M. Boucher; Douglas Grossman; Aaron M. Secrest (Familial Cancer, 2021)

Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer - Pia Alhopuro; Reetta Vainionpää; Anna-Kaisa Anttonen; Kristiina Aittomäki; Heli Nevanlinna; Minna Pöyhönen (Familial Cancer, 2020)
Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast and ovarian cancer syndrome (HBOC). Mutations in these genes are usually inherited, and reports of de novo BRCA1/2 mutations are rare. To date, only one patient with low-level BRCA1 mutation mosaicism has been published. We report on a breast cancer patient with constitutional somatic mosaicism of a BRCA2 mutation. BRCA2 mutation c.9294C>G, p.(Tyr3098Ter) was detected in 20% of reads in DNA extracted from peripheral blood using next-generation sequencing (NGS). The BRCA2 mutation was subsequently observed at similar levels in normal breast tissue, adipose tissue, normal right fallopian tube tissue and ovaries of the patient, suggesting that this mutation occurred early in embryonic development. This is the first case to report constitutional mosaicism for a BRCA2 mutation and shows that BRCA2 mosaicism can underlie early-onset breast cancer. NGS for BRCA1/2 should be considered for patients whose tumors harbor a BRCA1/2 mutation and for individuals suggestive of genetic predisposition but without a family history of HBO.

Women’s responses and understanding of polygenic breast cancer risk information - T. Yanes; R. Kaur; B. Meiser; M. Scheepers-Joynt; S. McInerny; K. Barlow-Stewart; Y. Antill; L. Salmon; C. Smyth; P. A. James; M. A. Young (Familial Cancer, 2020)

Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1 - Eliza Courtney; Sock Hoai Chan; Shao Tzu Li; Diana Ishak; Khurshid Merchant; Tarryn Shaw; Wen Yee Chay; Felicia Hui Xian Chin; Wai Loong Wong; Adele Wong; Joanne Ngeow (Familial Cancer, 2020)

Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics - B. Meiser; R. Kaur; J. Kirk; A. Morrow; M. Peate; W. K. T. Wong; E. McPike; E. Cops; C. Dowson; R. Austin; M. Fine; L. Thrupp; et al. (Familial Cancer, 2020)

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing - Tamara Alejandra Piñero; Omar Soukarieh; Marion Rolain; Karin Alvarez; Francisco López-Köstner; Giovana Tardin Torrezan; Dirce Maria Carraro; Ivana Lucia De Oliveira Nascimento; Thaís Ferreira Bomfim; Taísa Manuela Bonfim Machado-Lopes; Juliana Côrtes Freitas; Maria Betânia Toralles; et al. (Familial Cancer, 2020)

Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family - Ciyu Yang; Margaret Sheehan; Ester Borras; Karen Cadoo; Kenneth Offit; Liying Zhang (Familial Cancer, 2020)

Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome - S. A. Nieuwenburg; F. Adan; M. W. G. Ruijs; G. S. Sonke; M. E. van Leerdam; M. B. Crijns (Familial Cancer, 2020)

Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report - Giovanni Grandi; Martina Caroli; Carlo Alboni; Laura Cortesi; Angela Toss; Elena Barbieri; Laura Botticelli; Fabio Facchinetti (Familial Cancer, 2020)

Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients - Jeanine A. M. van der Giessen; Margreet G. E. M. Ausems; Maria E. T. C. van den Muijsenbergh; Sandra van Dulmen; Mirjam P. Fransen (Familial Cancer, 2020)
There is a disproportionate underuse of genetic testing in breast cancer patients from lower education or migrant background. Within these groups, communication about referral to genetic counseling appears challenging due to limited health literacy and cultural barriers. Our aim was to develop and evaluate a training program for healthcare professionals (breast surgeons and specialized nurses), to increase effective communication. We systematically developed a blended training program based on patients’ and healthcare professionals’ needs and preferences. Prior to the training, we assessed awareness, knowledge and self-efficacy of healthcare professionals. Acceptability and usefulness of the training program were assessed directly after the training. Healthcare professionals (n = 65) from 17 hospitals showed moderate to high awareness and knowledge about the prevalence and impact of limited health literacy. They were aware of cultural factors that influence communication. However, they did not feel confident in recognizing limited health literacy and their self-efficacy to communicate effectively with these patients was low. The training program was rated as acceptable and useful. Healthcare professionals lack confidence to effectively communicate with patients with limited health literacy or migrant background. The training program offers opportunities to improve communication about referral to breast cancer genetic counseling.

Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for increased vigilance and intervention in at-risk AYAs - Mohamed M. Gad; Anne-Marie Langevin; Aaron J. Sugalski; Gail E. Tomlinson (Familial Cancer, 2020)

Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome - Allison Werner-Lin; Jennifer L. Young; Catherine Wilsnack; Shana L. Merrill; Victoria Groner; Mark H. Greene; Payal P. Khincha (Familial Cancer, 2020)

Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany - A. Laner; A. Benet-Pages; B. Neitzel; E. Holinski-Feder (Familial Cancer, 2020)

De novo SDHB gene mutation in a family with extra-adrenal paraganglioma - Caitlin B. Mauer; Brian Reys; Jonathan Wickiser (Familial Cancer, 2020)

Genetic health professionals’ experiences with initiating reanalysis of genomic sequence data - Danya F. Vears; Karine Sénécal; Pascal Borry (Familial Cancer, 2020)

Patient-reported burden of intensified surveillance and surgery in high-risk individuals under pancreatic cancer surveillance - Kasper A. Overbeek; Djuna L. Cahen; Anne Kamps; Ingrid C. A. W. Konings; Femme Harinck; Marianne A. Kuenen; Bas Groot Koerkamp; Marc G. Besselink; Casper H. van Eijck; Anja Wagner; Margreet G. E. Ausems; Manon van der Vlugt; et al. (Familial Cancer, 2020)
In high-risk individuals participating in a pancreatic cancer surveillance program, worrisome features warrant for intensified surveillance or, occasionally, surgery. Our objectives were to determine the patient-reported burden of intensified surveillance and/or surgery, and to assess post-operative quality of life and opinion of surgery. Participants in our pancreatic cancer surveillance program completed questionnaires including the Cancer Worry Scale (CWS) and the Hospital Anxiety and Depression Scale (HADS). For individuals who underwent intensified surveillance, questionnaires before, during, and ≥ 3 weeks after were analyzed. In addition, subjects who underwent intensified surveillance in the past 3 years or underwent surgery at any time, were invited for an interview, that included the Short-Form 12 (SF-12). A total of 31 high-risk individuals were studied. During the intensified surveillance period, median CWS scores were higher (14, IQR 7), as compared to before (12, IQR 9, P = 0.007) and after (11, IQR 7, P = 0.014), but eventually returned back to baseline ( P = 0.823). Median HADS scores were low: 5 (IQR 6) for anxiety and 3 (IQR 5) for depression, and they were unaffected by the intensified surveillance period. Of the 10 operated patients, 1 (10%) developed diabetes and 7 (70%) pancreatic exocrine insufficiency. The interviews yielded median quality-of-life scores comparable to the general population. Also, after surgery, patients’ attitudes towards surveillance were unchanged (5/10, 50%) or became more positive (4/10, 40%). Although patients were aware of the (sometimes benign) pathological outcome, when asked if surgery had been justified, only 20% (2/10) disagreed, and all would again have chosen to undergo surgery. In conclusion, in individuals at high risk for pancreatic cancer, intensified surveillance temporarily increased cancer worries, without affecting general anxiety or depression. Although pancreatic surgery led to substantial co-morbidity, quality of life was similar to the general population, and surgery did not negatively affect the attitude towards surveillance.

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis - Brandie Heald; Heather Hampel; James Church; Beth Dudley; Michael J. Hall; Maureen E. Mork; Aparajita Singh; Elena Stoffel; Jessica Stoll; Y. Nancy You; Matthew B. Yurgelun; Sonia S. Kupfer (Familial Cancer, 2020)

Lack of evidence for CDK12 as an ovarian cancer predisposing gene - Alexandre Eeckhoutte; Mathilde Saint-Ghislain; Manon Reverdy; Virginie Raynal; Sylvain Baulande; Guillaume Bataillon; Lisa Golmard; Dominique Stoppa-Lyonnet; Tatiana Popova; Claude Houdayer; Elodie Manié; Marc-Henri Stern (Familial Cancer, 2020)

Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation? - Shimelis Dejene Gemechu; Christine M. van Vliet; Aung Ko Win; Jane C. Figueiredo; Loic Le Marchand; Steven Gallinger; Polly A. Newcomb; John L. Hopper; Noralane M. Lindor; Mark A. Jenkins; James G. Dowty (Familial Cancer, 2020)

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer - Tu Nguyen-Dumont; Jason A. Steen; Ingrid Winship; Daniel J. Park; Bernard J. Pope; Fleur Hammet; Maryam Mahmoodi; Helen Tsimiklis; Derrick Theys; Mark Clendenning; Graham G. Giles; John L. Hopper; et al. (Familial Cancer, 2020)

Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family - I. Viakhireva; E. Musatova; L. Bessonova; Y. Shcherbatyuk; S. Korobkov; S. Zhikriveckaya; Ya. Sofronova; I. Mironova; D. Khmelkova; F. Konovalov; A. Baranova; E. Pomerantseva; et al. (Familial Cancer, 2020)

Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention - Talayeh S. Ghezelayagh; Lauren E. Stewart; Barbara M. Norquist; Deborah J. Bowen; Vivian Yu; Kathy J. Agnew; Kathryn P. Pennington; Elizabeth M. Swisher (Familial Cancer, 2020)

Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP) - Ceranza G. Daans; Zeinab Ghorbanoghli; Mary E. Velthuizen; Hans F. A. Vasen; George J. A. Offerhaus; Miangela M. Lacle; Peter D. Siersema; Margreet G. E. M. Ausems; Jurjen J. Boonstra (Familial Cancer, 2020)
Barrett’s oesophagus (BE) has been associated with an increased risk of both colorectal adenomas and colorectal cancer. A recent investigation reported a high frequency of BE in patients with adenomatous polyposis coli ( APC )-associated polyposis (FAP). The aim of the present study is to evaluate the prevalence of BE in a large cohort of patients with MUTYH -associated polyposis (MAP) and APC -associated adenomatous polyposis. Patients with a genetically confirmed diagnosis of familial adenomatous polyposis (FAP) or MAP were selected and upper gastrointestinal (GI) endoscopy reports, pathology reports of upper GI biopsies were reviewed to determine the prevalence of BE in these patients. Histologically confirmed BE was found in 7 (9.7%) of 72 patients with MAP. The mean age of diagnosis was 60.2 years (range 54.1–72.4 years). Two patients initially diagnosed with low grade dysplasia showed fast progression into high grade dysplasia and esophageal cancer, respectively. Only 4 (1.4%) of 365 patients with FAP were found to have pathologically confirmed BE. The prevalence of BE in patients with MAP is much higher than reported in the general population. We recommend that upper GI surveillance of patients with MAP should not only focus on the detection of gastric and duodenal adenomas but also on the presence of BE.

Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report - Pamela Brock; Jean Bustamante Alvarez; Amir Mortazavi; Sameek Roychowdhury; John Phay; Raheela A. Khawaja; Manisha H. Shah; Bhavana Konda (Familial Cancer, 2020)

Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer - Ming Ren Toh; Chen Ee Low; Siao Ting Chong; Sock Hoai Chan; Nur Diana Binte Ishak; Eliza Courtney; Arun Mouli Kolinjivadi; Amélie Rodrigue; Jean-Yves Masson; Joanne Ngeow (Familial Cancer, 2020)

Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics - Monika Morak; Verena Steinke-Lange; Trisari Massdorf; Anna Benet-Pages; Melanie Locher; Andreas Laner; Katrin Kayser; Stefan Aretz; Elke Holinski-Feder (Familial Cancer, 2020)

Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway - Eli Marie Grindedal; Kjersti Jørgensen; Pernilla Olsson; Berit Gravdehaug; Hilde Lurås; Ellen Schlichting; Tone Vamre; Teresia Wangensteen; Cecilie Heramb; Lovise Mæhle (Familial Cancer, 2020)
Studies have shown that a significant number of eligible breast cancer patients are not offered genetic testing or referral to genetic counseling. To increase access to genetic testing in South Eastern Norway, testing has since 2014 been offered directly to breast cancer patients by surgeons and oncologists. This practice is termed “mainstreamed genetic testing”. The aim of this study was to investigate to what extent patients in South Eastern Norway are offered testing. Three hundred and sixty one patients diagnosed in 2016 and 2017 at one regional and one university hospital in South Eastern Norway were included. Data on whether the patients fulfilled the criteria, whether they had been offered testing and if they were tested were collected. In total, 26.6% (96/361) fulfilled the criteria for testing. Seventy five percent (69/92) of these were offered testing, and 71.7% (66/92) were tested. At the university hospital, 90.2% (37/41) of eligible patients were offered testing, and at the regional hospital 62.7% (32/51). Fifty two percent (12/23) of eligible patient not offered testing were younger than 50 years at time of diagnosis. As many as 95.4% (125/131) of all patients who were offered testing, wanted to be tested. The majority of patients who fulfilled the criteria were offered testing, supporting the practice of mainstreamed genetic testing. There were nevertheless differences in rates of testing between the hospitals that affected all groups of patients, indicating that genetic testing may not be equally accessible to all patients. We suggest that efforts should be made to increase awareness and improve routines for genetic testing of breast cancer patients in Norway.

Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients - Randall E. Brand; Beth Dudley; Eve Karloski; Rohit Das; Kimberly Fuhrer; Rish K. Pai; Reetesh K. Pai (Familial Cancer, 2020)

Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome (LS): a descriptive study - Mari H. Kalamo; J. U. Mäenpää; T. T. Seppälä; J. P. Mecklin; H. Huhtala; K. Sorvettula; K. Pylvänäinen; S. Staff (Familial Cancer, 2020)
To prevent endometrial carcinoma in Lynch syndrome (LS), regular gynecological surveillance visits and prophylactic surgery are recommended. Previous data have shown that prophylactic hysterectomy is an effective means of cancer prevention, while the advantages and disadvantages of surveillance are somewhat unclear. We aimed to evaluate female LS carriers’ attitudes towards regular gynecological surveillance and factors influencing their decision-making on prophylactic surgery that have not been well documented. Pain experienced during endometrial biopsies was also evaluated. Postal questionnaires were sent to LS carriers undergoing regular gynecological surveillance. Questionnaires were sent to 112 women with LS, of whom 76 responded (68%). Forty-two (55%) had undergone prophylactic hysterectomy by the time of the study. The majority of responders (64/76; 84.2%) considered surveillance appointments beneficial. Pain level during endometrial biopsy was not associated with the decision to undergo prophylactic surgery. The level of satisfaction the women had with the information and advice provided during surveillance was significantly associated with the history of prophylactic hysterectomy (satisfaction rate of 73.2% versus 31.8% of nonoperated women, p = 0.003). The women who had undergone prophylactic surgery were older than the nonoperated women both at mutation testing (median of 42.3 years versus 31.6 years, p < 0.001) and at the time of the study (median of 56.9 years versus 46.0 years, respectively, p < 0.001). Women with LS pathogenic variants have positive experiences with gynecological surveillance visits, and their perception of the quality of the information and advice obtained plays an important role in their decision-making concerning prophylactic surgery.

De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer - Rinat Bernstein Molho; Shelly Zalmanoviz; Yael Laitman; Eitan Friedman (Familial Cancer, 2020)

The (ir)relevance of the abandoned criterion II for the diagnosis of serrated polyposis syndrome: a retrospective cohort study - Arne G.C. Bleijenberg; Joep E.G. IJspeert; Daniel Rodríguez-Alcalde; Sabela Carballal; Maurits R. Visser; Maria Pellise; Jan Jacob Koornstra; Salman A. Rana; Andrew Latchford; Francesc Balaguer; Evelien Dekker (Familial Cancer, 2020)

Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17–19th, 2019 (Familial Cancer, 2020)

Neurofibromatosis type 2 discordance in monozygous twins - S. Amico; P. Smith; S. Tobi; M. Perry; A. Wallace; D. G. Evans (Familial Cancer, 2020)

Clear cell chondrosarcoma in Von Hippel-Lindau disease - Koen M. A. Dreijerink; Rachel S. van Leeuwaarde; Wenzel M. Hackeng; Rachel H. Giles; Wendy W. J. de Leng; Paul C. Jutte; Albert J. H. Suurmeijer; Bernadette P. M. van Nesselrooij; Lodewijk A. A. Brosens (Familial Cancer, 2020)
A diagnosis of clear cell chondrosarcoma of the ulna was made in a patient with Von Hippel-Lindau disease (VHL). After surgery, genetic analysis of the tumor tissue showed loss of heterozygosity at the VHL gene locus. Immunohistochemical analysis confirmed loss of expression of the VHL protein in the tumor cells. In addition, abundant Cyclin D1 expression in the tumor was observed. Chondrosarcoma has been described before in a VHL patient and VHL protein expression has been correlated to tumor grade in a series of sporadic chondrosarcomas. In this report, we show that clear cell chondrosarcoma may be a rare but canonical VHL manifestation through a cell-autonomous mechanism involving somatic loss-of-heterozygosity of the VHL tumor suppressor gene. We discuss the relevance of this observation with regard to the pathogenesis of clear cell chondrosarcoma in the context of VHL.

Renal cell carcinoma in young FH mutation carriers: case series and review of the literature - J. A. Hol; M. C. J. Jongmans; A. S. Littooij; R. R. de Krijger; R. P. Kuiper; J. J. T. van Harssel; A. Mensenkamp; M. Simons; G. A. M. Tytgat; M. M. van den Heuvel-Eibrink; M. van Grotel (Familial Cancer, 2020)
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase ( FH ) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC), which is usually adult-onset. HLRCC-related RCC tends to be aggressive and can metastasize even when the primary tumor is small. Data on children and adolescents are scarce. Herein, we report two patients from unrelated Dutch families, with HLRCC-related RCC at the ages of 15 and 18 years, and a third patient with an FH mutation and complex renal cysts at the age of 13. Both RCC’s were localized and successfully resected, and careful MRI surveillance was initiated to monitor the renal cysts. One of the patients with RCC subsequently developed an ovarian Leydig cell tumor. A review of the literature identified 10 previously reported cases of HLRCC-related RCC in patients aged younger than 20 years, five of them presenting with metastatic disease. These data emphasize the importance of recognizing HLRCC in young patients to enable early detection of RCC, albeit rare. They support the recommendations from the 2014 consensus guideline, in which genetic testing for FH mutations, and renal MRI surveillance, is advised for HLRCC family members from the age of 8–10 years onwards.

‘We don’t know for sure’: discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations - Niki M. Medendorp; Marij A. Hillen; Pomme E. A. van Maarschalkerweerd; Cora M. Aalfs; Margreet G. E. M. Ausems; Senno Verhoef; Lizet E. van der Kolk; Lieke P. V. Berger; Marijke R. Wevers; Anja Wagner; Barbara A. H. Caanen; Anne M. Stiggelbout; et al. (Familial Cancer, 2020)
Pre-test counseling about multigene panel testing involves many uncertainties. Ideally, counselees are informed about uncertainties in a way that enables them to make an informed decision about panel testing. It is presently unknown whether and how uncertainty is discussed during initial cancer genetic counseling. We therefore investigated whether and how counselors discuss and address uncertainty, and the extent of shared decision-making (SDM), and explored associations between counselors’ communication and their characteristics in consultations on panel testing for cancer. For this purpose, consultations of counselors discussing a multigene panel with a simulated patient were videotaped. Simulated patients represented a counselee who had had multiple cancer types, according to a script. Before and afterwards, counselors completed a survey. Counselors’ uncertainty expressions, initiating and the framing of expressions, and their verbal responses to scripted uncertainties of the simulated patient were coded by two researchers independently. Coding was done according to a pre-developed coding scheme using The Observer XT software for observational analysis. Additionally, the degree of SDM was assessed by two observers. Correlation and regression analyses were performed to assess associations of communicated uncertainties, responses and the extent of SDM, with counselors’ background characteristics. In total, twenty-nine counselors, including clinical geneticists, genetic counselors, physician assistants-in-training, residents and interns, participated of whom working experience varied between 0 and 25 years. Counselors expressed uncertainties mainly regarding scientific topics (94%) and on their own initiative (95%). Most expressions were framed directly (77%), e.g. We don’t know , and were emotionally neutral (59%; without a positive/negative value). Counselors mainly responded to uncertainties of the simulated patient by explicitly referring to the uncertainty (69%), without providing space for further disclosure (66%). More experienced counselors provided less space to further disclose uncertainty ( p < 0.02), and clinical geneticists scored lower on SDM compared with other types of counselors ( p < 0.03). Our findings that counselors mainly communicate scientific uncertainties and use space-reducing responses imply that the way counselors address counselees’ personal uncertainties and concerns during initial cancer genetic counseling is suboptimal.

Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li–Fraumeni syndrome) - Vanessa Petry; Renata Colombo Bonadio; Allyne Queiroz Carneiro Cagnacci; Luiz Antonio Leite Senna; Roberta do Nascimento Galvão Campos; Guilherme Cutait Cotti; Paulo M. Hoff; Maria Candida Barisson Villares Fragoso; Maria del Pilar Estevez-Diz (Familial Cancer, 2020)

MLH1 promoter hypermethylation: are you absolutely sure about the absence of MLH1 germline mutation? About a new case - Caroline Kientz; Fabienne Prieur; Alix Clemenson; Marie-Odile Joly; Marie-Laure Stachowicz; Jessie Auclair; Valéry Attignon; Renaud Schiappa; Qing Wang (Familial Cancer, 2020)

Long-term positive psychological outcomes in an Australian pancreatic cancer screening program - R. S. O’Neill; B. Meiser; S. Emmanuel; D. B. Williams; A. Stoita (Familial Cancer, 2020)

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature - M. D. Aydemirli; K. van der Tuin; F. J. Hes; A. M. W. van den Ouweland; T. van Wezel; E. Kapiteijn; H. Morreau (Familial Cancer, 2020)
We report a case of a 22-year-old female patient who was diagnosed with a cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC). While at early ages this thyroid cancer variant is highly suggestive for familial adenomatous polyposis (FAP), there was no family history of FAP. In the tumor biallelic, inactivating APC variants were identified. The patient tested negative for germline variants based on analysis of genomic DNA from peripheral blood leukocytes. Somatic mosaicism was excluded by subsequent deep sequencing of leukocyte and normal thyroid DNA using next generation sequencing (NGS). This report presents a rare sporadic case of CMV-PTC, and to the best of our knowledge the first featuring two somatic APC mutations underlying the disease, with an overview of CMV-PTC cases with detected APC and CTNNB1 pathogenic variants from the literature.

Novel candidates in early-onset familial colorectal cancer - Anne M. L. Jansen; Pradipta Ghosh; Tikam C. Dakal; Thomas P. Slavin; C. Richard Boland; Ajay Goel (Familial Cancer, 2020)

Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European - Mesaki K. Ndugga-Kabuye; Rachel B. Issaka (Familial Cancer, 2019)

Health behaviours and beliefs in individuals with familial pancreatic cancer - Meghan Underhill-Blazey; Traci Blonquist; Janette Lawrence; Fangxin Hong; Matthew B. Yurgelun; Sapna Syngal (Familial Cancer, 2019)
Individuals at high risk for pancreatic cancer are recommended surveillance and healthy lifestyle behaviours and patient experience with recommendations are understudied. To describe engagement and experience with surveillance, tobacco and alcohol use, health beliefs and motivation (Champion Health Belief Measure) and the relationship with personal, psychosocial (Impact of Event Scale), and familial characteristics. Interest in integrative therapies (complementary therapies) are described. A multi-site cross-sectional survey including individuals at high risk for pancreatic cancer with no diagnosis of pancreatic cancer who have been evaluated at a comprehensive cancer center. Descriptive statistics and Wilcoxon rank sum test and Fisher’s exact test were used to assess univariate associations. Of the 132 respondents (72% response rate), 92 (70%) reported undergoing surveillance which was associated with older age (p = 0.001). Of which, 36% and 51% report that magnetic resonance imaging (MRI) or endoscopic ultrasound (EUS), respectively, were uncomfortable; 22% and 30% dread the next MRI or EUS, respectively. Of those who reported alcohol consumption (n = 88); 15% consumed 1 or more drinks daily and no alcohol consumption was associated with higher Impact of Event scale scores (p = 0.024). A total of six participants were currently smoking every day or some days. Participants reported high motivation to engage in heathy behaviours and 92% were interested in integrative therapies. In these select participants, most were engaging in pancreatic cancer surveillance, alcohol intake was moderate, and tobacco intake was minimal. Modifiable factors, such as experience and comfort with surveillance could be addressed. The sample is motivated to engage in behavioural health intervention.

Should unaffected female BRCA2 pathogenic variant carriers be told there is little or no advantage from risk reducing mastectomy? - D. Gareth Evans; Sacha J. Howell; Anthony Howell (Familial Cancer, 2019)

Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model - Thorkild Terkelsen; Lise-Lotte Christensen; Deirdre Cronin Fenton; Uffe Birk Jensen; Lone Sunde; Mads Thomassen; Anne-Bine Skytte (Familial Cancer, 2019)

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling - Camila Matzenbacher Bittar; Igor Araujo Vieira; Cristina Silva Sabato; Tiago Finger Andreis; Bárbara Alemar; Osvaldo Artigalás; Henrique de Campos Reis Galvão; Gabriel S. Macedo; Edenir Inez Palmero; Patricia Ashton-Prolla (Familial Cancer, 2019)

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? - Alessandro Vaisfeld; Martina Calicchia; Maria Grazia Pomponi; Emanuela Lucci-Cordisco; Luca Reggiani-Bonetti; Maurizio Genuardi (Familial Cancer, 2019)

Hereditary diffuse gastric cancer: cancer risk and the personal cost of preventive surgery - P. Kaurah; A. Talhouk; A. MacMillan; I. Lewis; K. Chelcun-Schreiber; S. S. Yoon; D. Huntsman (Familial Cancer, 2019)

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant - Judith A. Eelloo; Miriam J. Smith; Naomi L. Bowers; John Ealing; Paul Hulse; James P. Wylie; Patrick Shenjere; Noel W. Clarke; Calvin Soh; Richard W. Whitehouse; Mark Jones; Christopher Duff; et al. (Familial Cancer, 2019)

Energy balance related lifestyle factors and risk of endometrial and colorectal cancer among individuals with lynch syndrome: a systematic review - Adriana M. Coletta; Susan K. Peterson; Leticia A. Gatus; Kate J. Krause; Susan M. Schembre; Susan C. Gilchrist; Mala Pande; Eduardo Vilar; Y. Nancy You; Miguel A. Rodriguez-Bigas; Larkin L. Strong; Patrick M. Lynch; et al. (Familial Cancer, 2019)

Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history - Mark A. Jenkins; Aung K. Win; James G. Dowty; Robert J. MacInnis; Enes Makalic; Daniel F. Schmidt; Gillian S. Dite; Mirosl Kapuscinski; Mark Clendenning; Christophe Rosty; Ingrid M. Winship; Jon D. Emery; et al. (Familial Cancer, 2019)

Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers - E. Christodoulou; M. Visser; T. P. Potjer; N. van der Stoep; M. Rodríguez-Girondo; R. van Doorn; N. Gruis (Familial Cancer, 2019)

Targeted next generation sequencing screening of Lynch syndrome in Tunisian population - Rihab Ben Sghaier; Anne Maria Lucia Jansen; Ahlem Bdioui; Tom Van Wezel; Mehdi ksiaa; Lamia Elgolli; Leila Ben Fatma; Slim Ben Ahmed; Mohamed Msaddak Azzouz; Olfa Hellara; Amine Elghali; Fathi Darbel; et al. (Familial Cancer, 2019)

Endoscopic full thickness resection for early colon cancer in Lynch syndrome - Alexandra M. J. Langers; Jurjen J. Boonstra; James C. H. Hardwick; Jolein van der Kraan; Arantza Farina Sarasqueta; Hans F.A. Vasen (Familial Cancer, 2019)

The incidence of consecutive manifestations in Von Hippel-Lindau disease - Anouk N. A. van der Horst-Schrivers; Wim J. Sluiter; Roeliene C. Kruizinga; Rachel S. van Leeuwaarde; Rachel Giles; Maran J. W. Olderode-Berends; Thera P. Links (Familial Cancer, 2019)

Genetic counseling referral for ovarian cancer patients: a call to action - Christine Garcia; Kara Harrison; Kari L. Ring; Mackenzie W. Sullivan; Lisa A. Rauh; Susan C. Modesitt (Familial Cancer, 2019)

Hereditary gastric cancer: what’s new? Update 2013–2018 - Rachel S. van der Post; Carla Oliveira; Parry Guilford; Fátima Carneiro (Familial Cancer, 2019)

Implication of DNA repair genes in Lynch-like syndrome - Rosa M. Xicola; Julia R. Clark; Timothy Carroll; Jurgis Alvikas; Priti Marwaha; Maureen R. Regan; Francesc Lopez-Giraldez; Jungmin Choi; Rajyasree Emmadi; Victoria Alagiozian-Angelova; Sonia S. Kupfer; Nathan A. Ellis; et al. (Familial Cancer, 2019)

Pediatric craniopharyngioma in association with familial adenomatous polyposis - Nathan A. Dahl; Drew Pratt; Sandra Camelo-Piragua; Chandan Kumar-Sinha; Rajen J. Mody; Seth Septer; Todd C. Hankinson; Arul M. Chinnaiyan; Carl Koschmann; Lindsey Hoffman (Familial Cancer, 2019)

Progress report: familial pancreatic cancer - Ioannis Mintziras; Detlef K. Bartsch (Familial Cancer, 2019)

Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting - Elizabeth V. Clarke; Kristin R. Muessig; Jamilyn Zepp; Jessica E. Hunter; Sapna Syngal; Louise S. Acheson; Georgia L. Wiesner; Susan K. Peterson; Kellene M. Bergen; Elizabeth Shuster; James V. Davis; Jennifer L. Schneider; et al. (Familial Cancer, 2019)

Moving into the mainstream: healthcare professionals’ views of implementing treatment focussed genetic testing in breast cancer care - Nina Hallowell; S. Wright; D. Stirling; C. Gourley; O. Young; M. Porteous (Familial Cancer, 2019)

Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots - Celine Chiu; Stefanie Loth; Michaela Kuhlen; Sebastian Ginzel; Jörg Schaper; Thorsten Rosenbaum; Torsten Pietsch; Arndt Borkhardt; Jessica I. Hoell (Familial Cancer, 2019)

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene - Catherine Beard; Rebecca Purvis; Ingrid M. Winship; Finlay A. Macrae; Daniel D. Buchanan (Familial Cancer, 2019)

NTHL1-associate polyposis: first Australian case report - Alexandra Groves; Margaret Gleeson; Allan D. Spigelman (Familial Cancer, 2019)

Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013–2018) - Mijke Visser; Nienke van der Stoep; Nelleke Gruis (Familial Cancer, 2019)

Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach - Kelly Reumkens; Christine E. M. de Die-Smulders; Liesbeth A. D. M. van Osch (Familial Cancer, 2019)

Recent advances in Lynch syndrome - Leah H. Biller; Sapna Syngal; Matthew B. Yurgelun (Familial Cancer, 2019)

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort - J. J. Bakhuizen; F. B. Hogervorst; M. E. Velthuizen; M. W. Ruijs; K. van Engelen; T. A. van Os; J. J. Gille; M. Collée; A. M. van den Ouweland; C. J. van Asperen; C. M. Kets; A. R. Mensenkamp; et al. (Familial Cancer, 2019)

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis - Erin G. Sutcliffe; Amanda Bartenbaker Thompson; Amy R. Stettner; Megan L. Marshall; Maegan E. Roberts; Lisa R. Susswein; Ying Wang; Rachel T. Klein; Kathleen S. Hruska; Benjamin D. Solomon (Familial Cancer, 2019)

Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort - Kelly Fulk; Holly LaDuca; Mary Helen Black; Dajun Qian; Yuan Tian; Amal Yussuf; Carin Espenschied; Kory Jasperson (Familial Cancer, 2019)

A squamous cell carcinoma in a young woman with Lynch syndrome - F. Adan; M. B. Crijns; E. Dekker; B. A. J. Bastiaansen; O. Lapid; P. Snaebjornsson; E. H. Rosenberg; M. E. van Leerdam; M. W. Bekkenk (Familial Cancer, 2019)

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome - Shahid Mahmood Baig; Ambrin Fatima; Muhammad Tariq; Tahir Naeem Khan; Zafar Ali; Mohammad Faheem; Humera Mahmood; Patrick Killela; Matthew Waitkus; Yiping He; Fangping Zhao; Sizhen Wang; et al. (Familial Cancer, 2019)

Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma - P. Vande Perre; A. Siegfried; C. Corsini; D. Bonnet; C. Toulas; N. Hamzaoui; J. Selves; E. Chipoulet; J. S. Hoffmann; E. Uro-Coste; R. Guimbaud (Familial Cancer, 2019)

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature - Florian Obermair; Melanie Rammer; Jonathan Burghofer; Theodora Malli; Anna Schossig; Katharina Wimmer; Wolfgang Kranewitter; Beate Mayrbaeurl; Hans-Christoph Duba; Gerald Webersinke (Familial Cancer, 2019)

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes - Janet R. Vos; Lisette Giepmans; Claas Röhl; Nicoline Geverink; Nicoline Hoogerbrugge (Familial Cancer, 2019)

Risk of multiple colorectal cancer development depends on age and subgroup in individuals with hereditary predisposition - Lars J. Lindberg; Wia Wegen-Haitsma; Steen Ladelund; Lars Smith-Hansen; Christina Therkildsen; Inge Bernstein; Mef Nilbert (Familial Cancer, 2019)

Ovarian small cell carcinoma in one of a pair of monozygous twins - Somayyeh Fahiminiya; Nelly Sabbaghian; Steffen Albrecht; Javad Nadaf; Donato Callegaro-Filho; William D. Foulkes (Familial Cancer, 2019)

Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma - Evan J. Walker; Julia Carnevale; Christina Pedley; Amie Blanco; Salina Chan; Eric A. Collisson; Margaret A. Tempero; Andrew H. Ko (Familial Cancer, 2019)

Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk - Rajneesh Kaur; Bettina Meiser; Tatiane Yanes; Mary-Anne Young; Kristine Barlow-Stewart; Tony Roscioli; Sian Smith; Paul A. James (Familial Cancer, 2019)

Electronically ascertained extended pedigrees in breast cancer genetic counseling - V. Stefansdottir; H. Skirton; O. Th. Johannsson; H. Olafsdottir; G. H. Olafsdottir; L. Tryggvadottir; J. J. Jonsson (Familial Cancer, 2019)

Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals - J. J. Bakhuizen; M. E. Velthuizen; S. Stehouwer; E. M. Bleiker; M. G. Ausems (Familial Cancer, 2019)

Interest in, willingness-to-pay for and willingness-to-recommend genetic testing for prostate cancer among affected men after radical prostatectomy - Marcel Mayer; Katharina Selig; Frank Tüttelmann; Andreas Dinkel; Jürgen E. Gschwend; Kathleen Herkommer (Familial Cancer, 2019)

Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation - Maurizio Ponz de Leon; Monica Pedroni; Alessandra Viel; Claudio Luppi; Rita Conigliaro; Federica Domati; Giuseppina Rossi; Luca Reggiani Bonetti (Familial Cancer, 2019)

International society for gastrointestinal hereditary tumours—InSiGHT (Familial Cancer, 2019)

Modified capture–recapture estimates of the number of families with Lynch syndrome in Central Ohio - John Michael O. Ranola; Rachel Pearlman; Heather Hampel; Brian H. Shirts (Familial Cancer, 2019)

The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden - Christina Edwinsdotter Ardnor; Anna Rosén; Ingrid Ljuslinder; Beatrice Melin (Familial Cancer, 2019)

Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma - Iikki Donner; Riku Katainen; Eevi Kaasinen; Mervi Aavikko; Lauri J. Sipilä; Eero Pukkala; Lauri A. Aaltonen (Familial Cancer, 2019)

Outcome of thyroid ultrasound screening in FAP patients with a normal baseline exam - Marc Monachese; Gautam Mankaney; Rocio Lopez; Margaret O’Malley; Lisa Laguardia; Matthew F. Kalady; James Church; Joyce Shin; Carol A. Burke (Familial Cancer, 2019)

Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant - Maria De Bonis; Angelo Minucci; Giovanni Luca Scaglione; Elisa De Paolis; Gianfranco Zannoni; Giovanni Scambia; Ettore Capoluongo (Familial Cancer, 2019)

Low-level parental mosaicism in an apparent de novo case of Peutz–Jeghers syndrome - G. I. Butel-Simoes; A. D. Spigelman; R. J. Scott; R. E. Vilain (Familial Cancer, 2019)

Cholesterol profile in women with premature menopause after risk reducing salpingo-oophorectomy - Natalia Teixeira; Marian J. Mourits; Jan C. Oosterwijk; Ingrid E. Fakkert; Anthony R. Absalom; Stephan J. L. Bakker; Peter van der Meer; Geertruida H. de Bock (Familial Cancer, 2019)

The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice - Fred H Menko; Jacqueline A ter Stege; Lizet E van der Kolk; Kiki N Jeanson; Winnie Schats; Daoud Ait Moha; Eveline M A Bleiker (Familial Cancer, 2019)

The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study - Kelly Reumkens; Marly H. E. Tummers; Joyce J. G. Gietel-Habets; Sander M. J. van Kuijk; Cora M. Aalfs; Christi J. van Asperen; Margreet G. E. M. Ausems; Margriet Collée; Charlotte J. Dommering; C. Marleen Kets; Lizet E. van der Kolk; Jan C. Oosterwijk; et al. (Familial Cancer, 2019)

Identification of a novel GREM1 duplication in a patient with multiple colon polyps - Danielle B. McKenna; Jeroen Van Den Akker; Alicia Y. Zhou; Lauren Ryan; Annette Leon; Robert O’Connor; Payal D. Shah; Anil K. Rustgi; Bryson W. Katona (Familial Cancer, 2019)

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer - Lisa Bush; Melyssa Aronson; Uri Tabori; Brittany B. Campbell; Raymond B. Bedgood; Kory Jasperson (Familial Cancer, 2019)

Sarcoma in neurofibromatosis 2: case report and review of the literature - C. Linder; M. J. Smith; M. Bulman; A. Wallace; A. J. Freemont; D. C. Mangham; D. G. R. Evans (Familial Cancer, 2019)

Report of a bi-allelic truncating germline mutation in TP53 - Natasha J. Brown; Kanika Bhatia; Julie Teague; Susan M. White; Patrick Lo; Jackie Challis; Victoria Beshay; Michael Sullivan; David Malkin; Jordan R. Hansford (Familial Cancer, 2019)

Physician interpretation of variants of uncertain significance - Sarah K. Macklin; Jessica L. Jackson; Paldeep S. Atwal; Stephanie L. Hines (Familial Cancer, 2019)

Reminders of cancer risk and pain catastrophizing: relationships with cancer worry and perceived risk in women with a first-degree relative with breast cancer - Colette A. Whitney; Caroline S. Dorfman; Rebecca A. Shelby; Francis J. Keefe; Vicky Gandhi; Tamara J. Somers (Familial Cancer, 2019)

Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis - Jirat Chenbhanich; Amporn Atsawarungruangkit; Sira Korpaisarn; Tanit Phupitakphol; Soravis Osataphan; Prasit Phowthongkum (Familial Cancer, 2019)

Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes - Helle Vendel Petersen; Birgitte Lidegaard Frederiksen; Charlotte Kvist Lautrup; Lars Joachim Lindberg; Steen Ladelund; Mef Nilbert (Familial Cancer, 2019)

Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes - Eryn Dow; Ingrid M. Winship (Familial Cancer, 2019)

Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori - Christopher Hakkaart; Lis Ellison-Loschmann; Robert Day; Andrew Sporle; Jonathan Koea; Pauline Harawira; Soo Cheng; Michelle Gray; Tracey Whaanga; Neil Pearce; Parry Guilford (Familial Cancer, 2019)

Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation - R. El Tannouri; E. Albuisson; P. Jonveaux; E. Luporsi (Familial Cancer, 2019)

Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma - Marieke Hylebos; Ken Op de Beeck; Jenneke van den Ende; Patrick Pauwels; Martin Lammens; Jan P. van Meerbeeck; Guy Van Camp (Familial Cancer, 2018)

Urological sequelae of desmoids associated with familial adenomatous polyposis - S. J. Walton; G. Malietzis; S. K. Clark; E. Havranek (Familial Cancer, 2018)

Discussions about predictive genetic testing for Lynch syndrome: the role of health professionals and families in decisions to decline - Anaita Kanga-Parabia; Clara Gaff; Louisa Flander; Mark Jenkins; Louise A. Keogh (Familial Cancer, 2018)

Response to letter to editor regarding published article—metachronous colorectal cancer following segmental or extended colectomy in Lynch syndrome: a systematic review and meta-analysis - Mark P. Lythgoe; Salim S. Malik; Mark McPhail; Kevin J. Monahan (Familial Cancer, 2018)

Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk - Allison H. West; Kathleen R. Blazer; Jessica Stoll; Matthew Jones; Caroline M. Weipert; Sarah M. Nielsen; Sonia S. Kupfer; Jeffrey N. Weitzel; Olufunmilayo I. Olopade (Familial Cancer, 2018)

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC) - Priya T. Bhola; Cathy Gilpin; Amanda Smith; Gail E. Graham (Familial Cancer, 2018)

The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome - Shelley Macaulay; Quintin Clive Goodyear; Mia Kruger; Wenlong Chen; Fahmida Essop; Amanda Krause (Familial Cancer, 2018)

Commentary: PREMM5 threshold of 2.5% is recommended to improve identification of PMS2 carriers - Fay Kastrinos; Hajime Uno; Sapna Syngal (Familial Cancer, 2018)

Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience - Eliza Courtney; Xin Wei Chin; Jeanette Yuen; Shao-Tzu Li; Yanni Chen; John Carson Allen; Veronique Tan; Geok Hoon Lim; Joanne Ngeow (Familial Cancer, 2018)

APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis - Astrid Tenden Stormorken; Thomas Berg; Ole-Jacob Norum; Toto Hølmebakk; Kristin Aaberg; Sonja E. Steigen; Eli Marie Grindedal (Familial Cancer, 2018)

Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same - A. J. Huq; M. Walsh; B. Rajagopalan; M. Finlay; A. H. Trainer; F. Bonnet; N. Sevenet; I. M. Winship (Familial Cancer, 2018)

Letter to the editor - C. C. Anele; A. Latchford; O. Faiz; S. K. Clark (Familial Cancer, 2018)

Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation - Carolina Arenas Valencia; Liliana Lopez Kleine; Andres M. Pinzon Velasco; Andrea Y. Cardona Barreto; Clara E. Arteaga Diaz (Familial Cancer, 2018)

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation - Jenny von Salomé; Tao Liu; Markku Keihäs; Moni Morak; Elke Holinski-Feder; Ian R. Berry; Jukka S. Moilanen; Stéphanie Baert-Desurmont; Annika Lindblom; Kristina Lagerstedt-Robinson (Familial Cancer, 2018)

Adaptation of couples living with a high risk of breast/ovarian cancer and the association with risk-reducing surgery - Rachel Shapira; Erin Turbitt; Lori H. Erby; Barbara B. Biesecker; William M. P. Klein; Gillian W. Hooker (Familial Cancer, 2018)

Feasibility of endoscopic resection using bipolar snare for nonampullary duodenal tumours in familial adenomatous polyposis patients - Kazuya Inoki; Takeshi Nakajima; Satoru Nonaka; Seiichiro Abe; Haruhisa Suzuki; Shigetaka Yoshinaga; Ichiro Oda; Masayoshi Yamada; Mizuki Takatsu; Hiroshi Yoshida; Hirokazu Taniguchi; Shigeki Sekine; et al. (Familial Cancer, 2018)

Metachronous colorectal cancer following segmental or extended colectomy in Lynch syndrome: a systematic review and meta-analysis - Salim S. Malik; Mark P. Lythgoe; Mark McPhail; Kevin J. Monahan (Familial Cancer, 2018)

SNP association study in PMS2-associated Lynch syndrome - Sanne W. ten Broeke; Fadwa A. Elsayed; Lisa Pagan; Maran J. W. Olderode-Berends; Encarna Gomez Garcia; Hans J. P. Gille; Liselot P. van Hest; Tom G. W. Letteboer; Lizet E. van der Kolk; Arjen R. Mensenkamp; Theo A. van Os; Liesbeth Spruijt; et al. (Familial Cancer, 2018)

Correlation of IL-31 gene polymorphisms with susceptibility and clinical recurrence of bladder cancer - Qin Li; Tielong Tang; Peng Zhang; Chenlu Liu; Yan Pu; Yan Zhang; Huizi Song; Yanyun Wang; Yaping Song; Min Su; Bin Zhou; Lin Zhang (Familial Cancer, 2018)

Mutations in context: implications of BRCA testing in diverse populations - Gabriela E. S. Felix; Yonglan Zheng; Olufunmilayo I. Olopade (Familial Cancer, 2018)

Germline variant in MSX1 identified in a Dutch family with clustering of Barrett’s esophagus and esophageal adenocarcinoma - A. M. J. van Nistelrooij; R. van Marion; W. F. J. van Ijcken; A. de Klein; A. Wagner; K. Biermann; M. C. W. Spaander; J. J. B. van Lanschot; W. N. M. Dinjens; B. P. L. Wijnhoven (Familial Cancer, 2018)

Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort - María Laura González; Natalia Causada-Calo; Juan Pablo Santino; Mev Dominguez-Valentin; Fabiana Alejandra Ferro; Inés Sammartino; Pablo Germán Kalfayan; Maria Alicia Verzura; Tamara Alejandra Piñero; Andrea Romina Cajal; Walter Pavicic; Carlos Vaccaro (Familial Cancer, 2018)

Association between miR-146a rs2910164 polymorphism and specific cancer susceptibility: an updated meta-analysis - Xia Hao; Lingzi Xia; Ruoyi Qu; Xianglin Yang; Min Jiang; Baosen Zhou (Familial Cancer, 2018)

Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population - Suzanne C. O’Neill; Chalanda Evans; Rebekah J. Hamilton; Beth N. Peshkin; Claudine Isaacs; Sue Friedman; Kenneth P. Tercyak (Familial Cancer, 2018)

Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer - Stijn Crobach; Anne M. L. Jansen; Marjolein J. L. Ligtenberg; Marije Koopmans; Maartje Nielsen; Frederik J. Hes; Juul T. Wijnen; Winand N. M. Dinjens; Tom van Wezel; Hans Morreau (Familial Cancer, 2018)

Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma - Nilesh Lomte; Sanjeet Kumar; Vijaya Sarathi; Reshma Pandit; Manjunath Goroshi; Swati Jadhav; Anurag R. Lila; Tushar Bandgar; Nalini S. Shah (Familial Cancer, 2018)

Cost-effectiveness evaluation of pre-counseling telephone interviews before face-to-face genetic counseling in cancer genetics - Gaëlle Collet; Nathalie Parodi; Kevin Cassinari; Zoe Neviere; Fanny Cohen; Céline Gasnier; Afane Brahimi; François Lecoquierre; Jean-Christophe Thery; Isabelle Tennevet; Elodie Lacaze; Pascaline Berthet; et al. (Familial Cancer, 2018)

Corrections to: Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries - Anne Brédart; Jean‑Luc Kop; Antonis C. Antoniou; Alex P. Cunningham; Antoine De Pauw; Marc Tischkowitz; Hans Ehrencrona; Sylvie Dolbeault; Léonore Robieux; Kerstin Rhiem; Douglas F. Easton; Peter Devilee; et al. (Familial Cancer, 2018)

Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge - Henry T. Lynch; Stephen Lanspa; Trudy Shaw; Murray Joseph Casey; Marc Rendell; Mark Stacey; Theresa Townley; Carrie Snyder; Megan Hitchins; Joan Bailey-Wilson (Familial Cancer, 2018)

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine - Aleksander Myszka; Tu Nguyen-Dumont; Pawel Karpinski; Maria M. Sasiadek; Hayane Akopyan; Fleur Hammet; Helen Tsimiklis; Daniel J. Park; Bernard J. Pope; Ryszard Slezak; Nataliya Kitsera; Aleksandra Siekierzynska; et al. (Familial Cancer, 2018)

Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations - Stephanie Kearton; Karen Wills; Michael Bunting; Penny Blomfield; Paul A. James; Jo Burke (Familial Cancer, 2018)

Penetrance of a rare familial mutation predisposing to papillary thyroid cancer - Donika Saporito; Pamela Brock; Heather Hampel; Jennifer Sipos; Soledad Fernandez; Sandya Liyanarachchi; Albert de la Chapelle; Rebecca Nagy (Familial Cancer, 2018)

Family history influences the tumor characteristics and prognosis of breast cancers developing during postmenopausal hormone therapy - Rainer Fagerholm; Maria Faltinova; Kirsi Aaltonen; Kristiina Aittomäki; Päivi Heikkilä; Mervi Halttunen-Nieminen; Heli Nevanlinna; Carl Blomqvist (Familial Cancer, 2018)

Ectopic, retroperitoneal adrenocortical carcinoma in the setting of Lynch syndrome - Jesse P. Wright; Kathleen W. Montgomery; Joshua Tierney; Jill Gilbert; Carmen C. Solórzano; Kamran Idrees (Familial Cancer, 2018)

Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer - F. G. J. Kallenberg; C. M. Aalfs; F. O. The; C. A. Wientjes; A. C. Depla; M. W. Mundt; P. M. M. Bossuyt; E. Dekker (Familial Cancer, 2018)

Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers - A. Goverde; M. C. W. Spaander; D. Nieboer; A. M. W. van den Ouweland; W. N. M. Dinjens; H. J. Dubbink; C. J. Tops; S. W. ten Broeke; M. J. Bruno; R. M. W. Hofstra; E. W. Steyerberg; A. Wagner (Familial Cancer, 2018)

Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing - Barbara Luísa Soares; Ayslan Castro Brant; Renan Gomes; Tatiane Pastor; Naye Balzan Schneider; Ândrea Ribeiro-dos-Santos; Paulo Pimentel de Assumpção; Maria Isabel W. Achatz; Patrícia Ashton-Prolla; Miguel Angelo Martins Moreira (Familial Cancer, 2018)

Germline mutations in lung cancer and personalized medicine - Francesco Cetta; Alessandra Renieri; Elisa Frullanti (Familial Cancer, 2018)

An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review - Julian Daniell; John-Paul Plazzer; Anuradha Perera; Finlay Macrae (Familial Cancer, 2018)

Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations - Jacopo Azzollini; Milena Mariani; Bernard Peissel; Siranoush Manoukian (Familial Cancer, 2018)

Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic - Jasmina Bojadzieva; Behrang Amini; Suzanne F. Day; Tiffiny L. Jackson; Parijatham S. Thomas; Brandy J. Willis; Whitney R. Throckmorton; Najat C. Daw; Therese B. Bevers; Louise C. Strong (Familial Cancer, 2018)

Dental anomalies in pediatric patients with familial adenomatous polyposis - Seth Septer; Brenda Bohaty; Robin Onikul; Vandana Kumar; Karen B. Williams; Thomas M. Attard; Craig A. Friesen; Lynn Roosa Friesen (Familial Cancer, 2018)

Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature - Parisa Mortaji; Katherine T. Morris; Von Samedi; Steven Eberhardt; Shawnia Ryan (Familial Cancer, 2018)

Discovery of mutations in homologous recombination genes in African-American women with breast cancer - Yuan Chun Ding; Aaron W. Adamson; Linda Steele; Adam M. Bailis; Esther M. John; Gail Tomlinson; Susan L. Neuhausen (Familial Cancer, 2018)

Cancer patients’ intentions towards receiving unsolicited genetic information obtained using next-generation sequencing - Rhodé M. Bijlsma; Hester Wessels; Roel H. P. Wouters; Anne M. May; Margreet G. E. M. Ausems; Emile E. Voest; Annelien L. Bredenoord (Familial Cancer, 2018)

Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations - Tao Wang; Zsofia K. Stadler; Liying Zhang; Martin R. Weiser; Olca Basturk; Jaclyn F. Hechtman; Efsevia Vakiani; Lenard B. Saltz; David S. Klimstra; Jinru Shia (Familial Cancer, 2018)

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations - Bruno Buecher; Antoine De Pauw; Louis Bazire; Claude Houdayer; Alice Fievet; Virginie Moncoutier; Fereshteh Farkhondeh; Samia Melaabi; Dominique Stoppa Lyonnet; Lisa Golmard (Familial Cancer, 2018)

Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan - Yacoub A. Yousef; Abdelghani Tbakhi; Maysa Al-Hussaini; Ibrahim AlNawaiseh; Ala Saab; Amal Afifi; Maysa Naji; Mona Mohammad; Rasha Deebajah; Imad Jaradat; Iyad Sultan; Mustafa Mehyar (Familial Cancer, 2018)

A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay - Francesca Bianchi; Elena Maccaroni; Laura Belvederesi; Cristiana Brugiati; Riccardo Giampieri; Federica Bini; Raffaella Bracci; Silvia Pagliaretta; Michela Del Prete; Francesco Piva; Alessandra Mandolesi; Marina Scarpelli; et al. (Familial Cancer, 2018)

p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers - Gabriel S. Macedo; Igor Araujo Vieira; Fernanda Salles Luiz Vianna; Barbara Alemar; Juliana Giacomazzi; Ana Paula Carneiro Brandalize; Maira Caleffi; Sahlua Miguel Volc; Henrique de Campos Reis Galvão; Edenir Inez Palmero; Maria Isabel Achatz; Patricia Ashton-Prolla (Familial Cancer, 2018)

Pancreatic adenocarcinoma with a germline PTEN p.Arg234Gln mutation - Sunao Uemura; Hiroyuki Matsubayashi; Yoshimi Kiyozumi; Katsuhiko Uesaka; Yusuke Yamamoto; Keiko Sasaki; Masato Abe; Kenichi Urakami; Masatoshi Kusuhara; Ken Yamaguchi (Familial Cancer, 2018)

Erratum to: A new hereditary colorectal cancer network in the Middle East and eastern Mediterranean countries to improve care for high-risk families - Zeinab Ghorbanoghli; Carol Jabari; Walid Sweidan; Wail Hammoudeh; George Cortas; Ala I. Sharara; Amal Abedrabbo; Ijad Hourani; Bahareh Mahjoubi; Keivan Majidzadeh; Nurdan Tözün; Hadia Ziada-Bouchaar; et al. (Familial Cancer, 2018)

Remarkable effects of imatinib in a family with young onset gastrointestinal stromal tumors and cutaneous hyperpigmentation associated with a germline KIT-Trp557Arg mutation: case report and literature overview - S. Farag; L. E. van der Kolk; H. H. van Boven; A. C. J. van Akkooi; G. L. Beets; J. W. Wilmink; N. Steeghs (Familial Cancer, 2018)

A comparison of cosegregation analysis methods for the clinical setting - John Michael O. Rañola; Quanhui Liu; Elisabeth A. Rosenthal; Brian H. Shirts (Familial Cancer, 2018)

The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes - Thomas P. Slavin; Susan L. Neuhausen; Bita Nehoray; Mariana Niell-Swiller; Ilana Solomon; Christina Rybak; Kathleen Blazer; Aaron Adamson; Kai Yang; Sharon Sand; Nancy Guerrero-Llamas; Danielle Castillo; et al. (Familial Cancer, 2018)

Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin - Ana Krivokuca; Vita Setrajcic Dragos; Ljiljana Stamatovic; Ana Blatnik; Ivana Boljevic; Vida Stegel; Jelena Rakobradovic; Petra Skerl; Stevo Jovandic; Mateja Krajc; Mirjana Brankovic Magic; Srdjan Novakovic (Familial Cancer, 2018)

A new hereditary colorectal cancer network in the Middle East and eastern mediterranean countries to improve care for high-risk families - Zeinab Ghorbanoghli; Carol Jabari; Walid Sweidan; Wail Hammoudeh; George Cortas; Ala I. Sharara; Amal Abedrabbo; Ijad Hourani; Bahareh Mahjoubi; Keivan Majidzadeh; Nurdan Tözün; Hadia Ziada-Bouchaar; et al. (Familial Cancer, 2018)

Issues related to family history of cancer at the end of life: a palliative care providers’ survey - Catherine Gonthier; Sylvie Pelletier; Pierre Gagnon; Ana Marin; Jocelyne Chiquette; Bruno Gagnon; Louis Roy; Jude Emmanuel Cléophat; Yann Joly; Michel Dorval (Familial Cancer, 2018)

Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland - Daniel R. Evans; Jane S. Green; Michael O. Woods (Familial Cancer, 2018)

Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing - Masood Alqahtani; Caitlin Edwards; Natasha Buzzacott; Karen Carpenter; Khalid Alsaleh; Abdulmalik Alsheikh; Waleed Abozeed; Miral Mashhour; Afnan Almousa; Yousef Housawi; Shareefa Al Hawwaj; Barry Iacopetta (Familial Cancer, 2018)

The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer - Hans F. A. Vasen (Familial Cancer, 2018)

Development of a high risk pancreatic screening clinic using 3.0 T MRI - Chad A. Barnes; Elizabeth Krzywda; Shannon Lahiff; Dena McDowell; Kathleen K. Christians; Paul Knechtges; Parag Tolat; Mark Hohenwalter; Kulwinder Dua; Abdul H. Khan; Douglas B. Evans; Jennifer Geurts; et al. (Familial Cancer, 2018)

Association of genetic variations in RTN4 3′-UTR with risk for clear cell renal cell carcinoma - Yan Pu; Peng Chen; Bin Zhou; Peng Zhang; Yanyun Wang; Yaping Song; Lin Zhang (Familial Cancer, 2018)

The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations - Sarah Macklin; Jennifer Gass; Ghada Mitri; Paldeep S. Atwal; Stephanie Hines (Familial Cancer, 2018)

Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries - Anne Brédart; Jean-Luc Kop; Antonis C. Antoniou; Alex P. Cunningham; Antoine De Pauw; Marc Tischkowitz; Hans Ehrencrona; Sylvie Dolbeault; Léonore Robieux; Kerstin Rhiem; Douglas F. Easton; Peter Devilee; et al. (Familial Cancer, 2018)

Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion - Meike Schneider; Katja Dinkelborg; Xiuli Xiao; Gayun Chan-Smutko; Kathleen Hruska; Dongli Huang; Pallavi Sagar; Mukesh Harisinghani; Othon Iliopoulos (Familial Cancer, 2018)

Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas - Mark Clendenning; Alvin Huang; Harindra Jayasekara; Marie Lorans; Susan Preston; Neil O’Callaghan; Bernard J. Pope; Finlay A. Macrae; Ingrid M. Winship; Roger L. Milne; Graham G. Giles; Dallas R. English; et al. (Familial Cancer, 2018)

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families - Mev Dominguez-Valentin; Sigve Nakken; Hélène Tubeuf; Daniel Vodak; Per Olaf Ekstrøm; Anke M. Nissen; Monika Morak; Elke Holinski-Feder; Alexandra Martins; Pål Møller; Eivind Hovig (Familial Cancer, 2018)

Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel - Naim Abu Freha; Yaara Leibovici Weissman; Alexander Fich; Inbal Barnes Kedar; Marisa Halpern; Ignacio Sztarkier; Doron M. Behar; Orly Arbib Sneh; Alex Vilkin; Hagit N. Baris; Rachel Gingold; Flavio Lejbkowicz; et al. (Familial Cancer, 2018)

Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing - Rachel Silva-Smith; Daniel A. Sussman (Familial Cancer, 2018)

A single visit multidisciplinary model for managing patients with mutations in moderate and high-risk genes in a community practice setting - Michael P. O’Leary; Bryan S. Goldner; Sridevi Abboy; Philip D. Mercado; Hong Yoon Plurad (Familial Cancer, 2018)

RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers - Lochlan J. Fennell; Mark Clendenning; Diane M. McKeone; Saara H. Jamieson; Samanthy Balachandran; Jennifer Borowsky; John Liu; Futoshi Kawamata; Catherine E. Bond; Christophe Rosty; Matthew E. Burge; Daniel D. Buchanan; et al. (Familial Cancer, 2018)

Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome - Erin E. Salo-Mullen; Patricio B. Lynn; Lu Wang; Michael Walsh; Anuradha Gopalan; Jinru Shia; Christina Tran; Fung Ying Man; Sean McBride; Mark Schattner; Liying Zhang; Martin R. Weiser; et al. (Familial Cancer, 2018)

Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers - Holly Etchegary; Elizabeth Dicks; Laura Tamutis; Lesa Dawson (Familial Cancer, 2018)

A multi-gene panel study in hereditary breast and ovarian cancer in Colombia - A. M. Cock-Rada; C. A. Ossa; H. I. Garcia; L. R. Gomez (Familial Cancer, 2018)

Next generation sequencing is informing phenotype: a TP53 example - R. O’Shea; R. Clarke; E. Berkley; C. Giffney; M. Farrell; E. O’Donovan; D. J. Gallagher (Familial Cancer, 2018)

The association of low penetrance genetic risk modifiers with colorectal cancer in lynch syndrome patients: a systematic review and meta-analysis - Neil Donald; Salim Malik; Joshua L. McGuire; Kevin J. Monahan (Familial Cancer, 2018)

Heightened perception of breast cancer risk in young women at risk of familial breast cancer - Rachael Glassey; Moira O’Connor; Angela Ives; Christobel Saunders; Sarah O’Sullivan; Sarah J. Hardcastle (Familial Cancer, 2018)

Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation? - R. El Tannouri; E. Albuisson; P. Jonveaux; E. Luporsi (Familial Cancer, 2018)

Gestational choriocarcinoma associated with a germline TP53 mutation - Anne-Claire Brehin; Sophie Patrier-Sallebert; Gaëlle Bougeard; Gwendoline Side-Pfennig; Francisco Llamas Gutierrez; Aude Lamy; Elodie Colasse; Christine Kandel-Aznar; Capucine Delnatte; Eric Vuillemin; Sophie Sadot-Lebouvier; Sylvie Odent; et al. (Familial Cancer, 2018)

TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma - Raissa C. Andrade; Maria A. F. D. de Lima; Paulo A. S. de Faria; Fernando R. Vargas (Familial Cancer, 2018)

How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study - Sandi Dheensa; Gillian Crawford; Claire Salter; Michael Parker; Angela Fenwick; Anneke Lucassen (Familial Cancer, 2018)

International society for gastrointestinal hereditary tumours—InSiGHT (Familial Cancer, 2017)

A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families - Patricia Llovet; Francisco J. Illana; Lorena Martín-Morales; Miguel de la Hoya; Pilar Garre; M. Dolores Ibañez-Royo; Pedro Pérez-Segura; Trinidad Caldés; Vanesa García-Barberán (Familial Cancer, 2017)

Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes - Elisabeth A. Rosenthal; John Michael O. Ranola; Brian H. Shirts (Familial Cancer, 2017)

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6 - Monika Morak; Sarah Käsbauer; Martina Kerscher; Andreas Laner; Anke M. Nissen; Anna Benet-Pagès; Hans K. Schackert; Gisela Keller; Trisari Massdorf; Elke Holinski-Feder (Familial Cancer, 2017)

Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical–pathological features in BRCA carriers and non-carriers - Xavier Gabaldó Barrios; Mª Desamparados Sarabia Meseguer; Miguel Marín Vera; Ana Isabel Sánchez Bermúdez; José Antonio Macías Cerrolaza; Pilar Sánchez Henarejos; Marta Zafra Poves; Mª Rosario García Hernández; Encarna Cuevas Tortosa; Ángeles Aliaga Baño; Verónica Castillo Guardiola; Pedro Martínez Hernández; et al. (Familial Cancer, 2017)

Placing negative multi-gene panel results into clinical context - David J. Hermel; Wendy C. McKinnon; Marie E. Wood; Marc S. Greenblatt (Familial Cancer, 2017)

General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey - Samuel G. Smith; Robbie Foy; Jennifer McGowan; Lindsay C. Kobayashi; John Burn; Karen Brown; Lucy Side; Jack Cuzick (Familial Cancer, 2017)