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NARA Subscribed1
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Springer Nature1
Journal
Familial Cancer1
Publication Year
20221
Laura Chegwidden results 1 · Newest (Page 1/1, per page 25)
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Author: Laura Chegwidden ×Clear All Filters
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The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient managementNARA Subscribed
Familial Cancer · 2022 · Vol. 21 · Issue 2 · Springer
Claire Palles; Lynn Martin; Enric Domingo; Laura Chegwidden; Josh McGuire; Vicky Cuthill; Ellen Heitzer; Rachel Kerr; David Kerr; Stephen Kearsey; Susan K. Clark; Ian Tomlinson; Andrew Latchford
Pathogenic germline exonuclease domain (ED) variants of POLE and POLD1 cause the Mendelian dominant condition polymerase proof-reading associated polyposis (PPAP). We aimed to describe the clinical features of all PPAP patients with probably pathogenic variants. We identified patients with a variants mapping to the EDs of POLE or POLD1 from cancer genetics clinics, a colorectal cancer (CRC) clinical trial, and systematic revie...
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