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Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencingNARA Subscribed
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. Identifying complex or structural MMR gene pathogenic variants can be challenging with short-read sequencing resulting in patients with unexplained MMR-deficient tumours. In this study, we report multiple members of a family who developed MSH2-deficient tumours where clinical multi-gene pane...
Classification of European Illex coindetii and Loligo forbesii Squid Stocks by Trace Element Analysis of StatolithsNARA Subscribed
We investigated whether statolith microchemistry analysis could classify ommastrephid and loliginid squid species into fishery stocks. Statolith nucleus (early life stage) and edge (life stage at time before catch) of Illex coindetii (Verany, 1839) and Loligo forbesii (Steenstrup, 1856) from various areas of the North East Atlantic Ocean and Mediterranean Sea during 2021–2022 were analysed using laser ablation ICP‐MS to measur...
The germline MLH1 c.-42 C > T (rs41285097) promoter variant has been identified in cases with MLH1-deficient colorectal or endometrial cancers but remains a variant of uncertain significance. Genetic testing identified two new MLH1 c.-42 C > T index cases from Australia and the USA. Clinicopathologic and molecular characterisation of tumour and non-neoplastic tissues was performed to investigate the potential mechanism of path...
Insight into the mechanism of action of ORG27569 at the cannabinoid type one receptor utilising a unified mathematical modelNARA Subscribed
Allosteric modulation of CB 1 is therapeutically advantageous compared to orthosteric activation as it potentially offers reduced on-target adverse effects. ORG27569 is an allosteric modulator that increases orthosteric agonist binding to CB 1 but decreases functional signalling. ORG27569 is characterised by a delay in disinhibition of agonist-induced cAMP inhibition (lag); however, the mechanism behind this kinetic lag is yet...
Stock discrimination of two European squids ( Illex coindetii , Loligo forbesii ) by statolith shape analysisNARA Subscribed
We evaluated the feasibility of classifying ommastrephid and loliginid squid species by statolith shape analysis into fisheries management units or stocks. Statoliths of Illex coindetii (Verany, 1839) and Loligo forbesii (Steenstrup, 1856) were studied from multiple areas of the North East Atlantic and Northern Mediterranean Sea during 2021–2022. I. coindetii and L. forbesii individuals were categorized into multiple stocks ac...
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X familyNARA Subscribed
Genetic susceptibility to familial colorectal cancer (CRC), including for individuals classified as Familial Colorectal Cancer Type X (FCCTX), remains poorly understood. We describe a multi-generation CRC-affected family segregating pathogenic variants in both BRCA1 , a gene associated with breast and ovarian cancer and RNF43 , a gene associated with Serrated Polyposis Syndrome (SPS). A single family out of 105 families meetin...