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

doi:10.1186/s13058-018-0935-9

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Article

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

Breast cancer research : BCR - 24 Jan 2018

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

Abstract excerpt

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...

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Identifiers

PMID: 29368626
DOI: 10.1186/s13058-018-0935-9
PMCID: PMC5784717

Genes

BRIP1
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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