Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

Abstract

We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA. A total of eight putative disease-causing alterations were identified: four of these are frameshifts and two are… (More)
DOI: 10.1038/ng1294-387

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