학술논문
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Document Type
article
Author
Nana Weber-Lassalle; Jan Hauke; Juliane Ramser; Lisa Richters; Eva Groß; Britta Blümcke; Andrea Gehrig; Anne-Karin Kahlert; Clemens R. Müller; Karl Hackmann; Ellen Honisch; Konstantin Weber-Lassalle; Dieter Niederacher; Julika Borde; Holger Thiele; Corinna Ernst; Janine Altmüller; Guido Neidhardt; Peter Nürnberg; Kristina Klaschik; Christopher Schroeder; Konrad Platzer; Alexander E. Volk; Shan Wang-Gohrke; Walter Just; Bernd Auber; Christian Kubisch; Gunnar Schmidt; Judit Horvath; Barbara Wappenschmidt; Christoph Engel; Norbert Arnold; Bernd Dworniczak; Kerstin Rhiem; Alfons Meindl; Rita K. Schmutzler; Eric Hahnen
Source
Breast Cancer Research, Vol 20, Iss 1, Pp 1-6 (2018)
Subject
Language
English
ISSN
1465-542X
Abstract
Abstract Background Germline mutations in the BRIP1 gene have been described as conferring a moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) pathogenesis remains controversial. Methods To assess the role of deleterious BRIP1 germline mutations in BC/OC predisposition, 6341 well-characterized index patients with BC, 706 index patients with OC, and 2189 geographically matched female controls were screened for loss-of-function (LoF) mutations and potentially damaging missense variants. All index patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germline testing and tested negative for pathogenic BRCA1/2 variants. Results BRIP1 LoF mutations confer a high OC risk in familial index patients (odds ratio (OR) = 20.97, 95% confidence interval (CI) = 12.02–36.57, P