학술논문
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing
Document Type
article
Author
D. Gareth Evans; Emma R. Woodward; George J. Burghel; Sophie Allen; Beth Torr; Monica Hamill; Grace Kavanaugh; Mike Hubank; Stephen Bremner; Christopher I. Jones; Helene Schlecht; Susan Astley; Sarah Bowers; Sarah Gibbons; Helen Ruane; Caroline Fosbury; Sacha J. Howell; Claire Forde; Fiona Lalloo; William G. Newman; Miriam J. Smith; Anthony Howell; Clare Turnbull; Ashu Gandhi
Source
Genetics in Medicine Open, Vol 2, Iss , Pp 100849- (2024)
Subject
Language
English
ISSN
2949-7744
Abstract
Purpose: To assess the contribution of germline pathogenic variants (PVs) in population-based series of breast cancers and the best strategy to improve detection rates. Methods: Three cohort studies were utilized, including a hospital-based series identified from new UK mainstream testing criteria (group-1), offering testing to all women (group-2-BReast CAncer [BRCA]-DIRECT), and a Greater Manchester cohort study recruited from the mammography screening population (group-3-Predicting Risk of Cancer at Screening). DNA samples from women with breast cancer were sequenced for PVs in BRCA1, BRCA2, and Partner and Localiser of BRCA2 (PALB2). The Manchester score (MS) was used at different points thresholds. Current mainstream criteria include women diagnosed