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Article

Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.

Cancer research - 15 Feb 2020

Moyer Cassandra L, Ivanovich Jennifer, Gillespie Jessica L, Doberstein Rachel, Radke Marc R, Richardson Marcy E, Kaufmann Scott H, Swisher Elizabeth M, Goodfellow Paul J

Abstract excerpt

Germline loss-of-function mutations in BRCA1 interacting protein C-terminal helicase 1 (BRIP1) are associated with ovarian carcinoma and may also contribute to breast cancer risk, particularly among patients who develop disease at an early age. Normal BRIP1 activity is required for DNA interstrand cross-link (ICL) repair and is thus central to the maintenance of genome stability. Although pathogenic mutations...

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Identifiers

PMID: 31822495
DOI: 10.1158/0008-5472.CAN-19-1991
PMCID: PMC8722358

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

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