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Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.

Molecular biology reports - 1 Dec 2013

Rudnicka Helena, Debniak Tadeusz, Cybulski Cezary, Huzarski Tomasz, Gronwald Jacek, Lubinski Jan, Gorski Bohdan

Abstract excerpt

BRCA1 and BRCA2 are two major genes associated with familial breast and ovarian cancer susceptibility. In Poland standard BRCA gene test is usually limited to Polish founder BRCA1 mutations: 5382insC, C61G and 4153delA. To date, just a few single large genomic rearrangements (LGRs) of BRCA1 gene have been reported in Poland. Here we report the first comprehensive analysis of large mutations in BRCA1 and BRCA2...

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Identifiers

PMID: 24065545
DOI: 10.1007/s11033-013-2775-0

Genes

BRCA1
BRCA2

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