Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.H233R
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RAD51C

NM_058216.3:p.H233R

Associated Papers

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Prakash R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36099300 (PubMed )
Supplement: pnas.2202727119.sapp.pdf

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

Gutiérrez-Enríquez S et al.

International Journal of Cancer, 2014

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.

Osher DJ et al.

British Journal of Cancer, 2012

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