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Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes.

Familial cancer - 1 Jan 2008

Smith Margaret, Fawcett Susan, Sigalas Emanouil, Bell Richard, Devery Sophie, Andrieska Nikolina, Winship Ingrid

Abstract excerpt

The co-existence of mutations in the BRCA1 and BRCA2 genes is unusual, and to date almost all cases reported have had at least one of the Ashkenazi founder mutations. We report on a family in whom individuals are double heterozygotes for a mutation in BRCA1 and a novel splice site mutation in BRCA2. The phenotypes are discordant, where one sister has had multiple cancers in the BRCA spectrum, while the other is...

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Source

Identifiers

PMID: 17636421
DOI: 10.1007/s10689-007-9154-8

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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