Article
Hereditary breast and ovarian cancer: new genes in confined pathways.
Nature reviews. Cancer - 1 Sept 2016
Nielsen Finn Cilius, van Overeem Hansen Thomas, Sørensen Claus Storgaard
Abstract excerpt
Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation...
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