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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

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?

SUBMITTER: Weber-Lassalle N 

PROVIDER: S-EPMC5784717 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Weber-Lassalle Nana N   Hauke Jan J   Ramser Juliane J   Richters Lisa L   Groß Eva E   Blümcke Britta B   Gehrig Andrea A   Kahlert Anne-Karin AK   Müller Clemens R CR   Hackmann Karl K   Honisch Ellen E   Weber-Lassalle Konstantin K   Niederacher Dieter D   Borde Julika J   Thiele Holger H   Ernst Corinna C   Altmüller Janine J   Neidhardt Guido G   Nürnberg Peter P   Klaschik Kristina K   Schroeder Christopher C   Platzer Konrad K   Volk Alexander E AE   Wang-Gohrke Shan S   Just Walter W   Auber Bernd B   Kubisch Christian C   Schmidt Gunnar G   Horvath Judit J   Wappenschmidt Barbara B   Engel Christoph C   Arnold Norbert N   Dworniczak Bernd B   Rhiem Kerstin K   Meindl Alfons A   Schmutzler Rita K RK   Hahnen Eric E  

Breast cancer research : BCR 20180124 1

<h4>Background</h4>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.<h4>Methods</h4>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 potential  ...[more]

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