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Article

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

Human molecular genetics - 1 Jul 2012

Osorio Ana, Endt Daniela, Fernández Fernando, Eirich Katharina, de la Hoya Miguel, Schmutzler Rita, Caldés Trinidad, Meindl Alfons, Schindler Detlev, Benitez Javier

Abstract excerpt

RAD51C was defined by Meindl et al. in 2010 as a high-risk gene involved in hereditary breast and ovarian cancers. Although this role seems to be clear, nowadays there is controversy about the indication of including the gene in routine clinical genetic testing, due to the lower prevalence or the absence of mutations found in subsequent studies. Here, we present the results of a comprehensive mutational screening...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22451500
DOI: 10.1093/hmg/dds115

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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