Article
Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper.
BMJ open - 25 Jun 2021
Cousens Nicole E, Tiller Jane, Meiser Bettina, Barlow-Stewart Kristine, Rowley Simone, Ko Yi-An, Mahale Sakshi, Campbell Ian G, Kaur Rajneesh, Bankier Agnes, Burnett Leslie, Jacobs Chris, James Paul A, Trainer Alison, Neil Suzanne, Delatycki Martin B, Andrews Lesley
Abstract excerpt
INTRODUCTION: People of Ashkenazi Jewish (AJ) ancestry are more likely than unselected populations to have a BRCA1/2 pathogenic variant, which cause a significantly increased risk of breast, ovarian and prostate cancer. Three specific BRCA1/2 pathogenic variants, referred to as BRCA-Jewish founder mutations (B-JFM), account for >90% of BRCA1/2 pathogenic variants in people of AJ ancestry. Current practice of...
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