About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

doi:10.1002/ijc.28540

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Article

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

International journal of cancer - 1 May 2014

Gutiérrez-Enríquez Sara, Bonache Sandra, de Garibay Gorka Ruíz, Osorio Ana, Santamariña Marta, Ramón y Cajal Teresa, Esteban-Cardeñosa Eva, Tenés Anna, Yanowsky Kira, Barroso Alicia, Montalban Gemma, Blanco Ana, Cornet Mònica, Gadea Neus, Infante Mar, Caldés Trinidad, Díaz-Rubio Eduardo, Balmaña Judith, Lasa Adriana, Vega Ana, Benítez Javier, de la Hoya Miguel, Diez Orland

Abstract excerpt

RAD51D mutations have been recently identified in breast (BC) and ovarian cancer (OC) families. Although an etiological role in OC appears to be present, the association of RAD51D mutations and BC risk is more unclear. We aimed to determine the prevalence of germline RAD51D mutations in Spanish BC/OC families negative for BRCA1/BRCA2 mutations. We analyzed 842 index patients: 491 from BC/OC families, 171 BC...

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Identifiers

PMID: 24130102
DOI: 10.1002/ijc.28540

Genes

BRCA1
BRCA2

Variants

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