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Article

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 20 May 2007

Machado Patrícia M, Brandão Rita D, Cavaco Branca M, Eugénio Joana, Bento Sandra, Nave Mónica, Rodrigues Paula, Fernandes Aires, Vaz Fátima

Abstract excerpt

PURPOSE: BRCA2 rearrangements are rare genetic events. A large BRCA2 genomic insertion was recurrently observed in our participants, and we sought to characterize it at the molecular and phenotypic level. PATIENTS AND METHODS: We studied 210 high-risk breast/ovarian cancer families. Fifty-three probands were fully screened for BRCA1/2 mutations, and three of 53 had a large insertion in exon 3 of BRCA2. This...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17513806
DOI: 10.1200/JCO.2006.06.9443

Genes

BRCA2
BRCA1

Variants

Provenance

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