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Ref Type Journal Article
PMID (21822267)
Authors Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, null null, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N
Title Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Journal Nature genetics
Vol 43
Issue 9
Date 2011 Aug 07
URL
Abstract Text Recently, RAD51C mutations were identified in families with breast and ovarian cancer. This observation prompted us to investigate the role of RAD51D in cancer susceptibility. We identified eight inactivating RAD51D mutations in unrelated individuals from 911 breast-ovarian cancer families compared with one inactivating mutation identified in 1,060 controls (P = 0.01). The association found here was principally with ovarian cancer, with three mutations identified in the 59 pedigrees with three or more individuals with ovarian cancer (P = 0.0005). The relative risk of ovarian cancer for RAD51D mutation carriers was estimated to be 6.30 (95% CI 2.86-13.85, P = 4.8 × 10(-6)). By contrast, we estimated the relative risk of breast cancer to be 1.32 (95% CI 0.59-2.96, P = 0.50). These data indicate that RAD51D mutation testing may have clinical utility in individuals with ovarian cancer and their families. Moreover, we show that cells deficient in RAD51D are sensitive to treatment with a PARP inhibitor, suggesting a possible therapeutic approach for cancers arising in RAD51D mutation carriers.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
RAD51D NCBI BROVCA4|R51H3|RAD51L3|TRAD RAD51D, RAD51 paralog D, functions in homologous recombination in DNA repair and plays a role in telomere maintenance (PMID: 21821141, PMID: 23108668). Mutations in RAD51D are associated with increased susceptibility to ovarian cancer (PMID: 23372765, PMID: 21822267). Unknown
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
RAD51D C9S missense unknown RAD51D C9S lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). C9S has been identified in the scientific literature (PMID: 22986143, PMID: 21822267, PMID: 25340522), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, May 2022).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51D loss Advanced Solid Tumor sensitive Olaparib Preclinical Actionable In a preclinical study, cells harboring biallelic loss-of-function mutations in RAD51D had increased sensitivity to Lynparza (olaparib) compared to cells with wild-type RAD51D (PMID: 21822267). 21822267