Article

Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases

2013-01-01

Abstract excerpt

To date, germline mutations in known high-penetrance genes, mainly BRCAI and BRCA2, and in moderate- and low-penetrance genes are responsible for approximately 30- 35% of breast cancer familial clustering, leaving the majority of them unexplained. In addition, the variability of the risk conferred by BRCAI and BRCA2 mutations suggests the presence of genetic modifiers of this risk. Therefore, the identification an...

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Literature Corpus work: 2e6e035a-7d49-5605-8ab9-5c7158e4a14a
DOI: 10.21954/ou.ro.0000d599

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