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Article

Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.

Familial cancer - 1 Jun 2015

James Paul A, Sawyer Sarah, Boyle Samantha, Young Mary-Anne, Kovalenko Serguei, Doherty Rebecca, McKinley Joanne, Alsop Kathryn, Beshay Victoria, Harris Marion, Fox Stephen, Lindeman Geoffrey J, Mitchell Gillian

Abstract excerpt

Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred hereditary breast and ovarian cancer (HBOC) families. Data from some series suggest LGRs represent particularly penetrant mutations. 1,034 index cases from HBOC families underwent comprehensive BRCA1 and BRCA2 mutation testing, including screening for LGRs. The personal and family history of...

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Source

Identifiers

PMID: 25678442
DOI: 10.1007/s10689-015-9785-0

Genes

BRCA1
BRCA2

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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