RAD51D Gene Mutations





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Additional Information

RAD51D gene

Associated Syndrome Name: RAD51D-associated Cancer Risk (Women only)

RAD51D Summary Cancer Risk Table

Cancer Genetic Cancer Risk
OvarianHigh Risk

RAD51D gene Overview

RAD51D-associated Cancer Risk (Women only) 1, 2, 3, 4, 5
  • Women with RAD51D mutations have an increased risk for ovarian cancer.
  • There are some studies showing that women with mutations in RAD51D have an increased risk for Triple Negative Breast Cancer (TNBC), a type of breast cancer lacking estrogen and progesterone receptors, and not expressing Her2. However, these studies are not conclusive and there are currently no medical management guidelines to address this possible risk.
  • At this time, there are no known cancer risks for men due to mutations in RAD51D.
  • Although there are high cancer risks for patients with mutations in RAD51D, there are interventions that may be effective at reducing these risks. Guidelines from the National Comprehensive Cancer Network (NCCN) that may apply are listed below. Since information about the cancer risks associated with RAD51D mutations is relatively new, and there is still some uncertainty about the best ways to reduce these risks, it may be appropriate to interpret these results in consultation with cancer genetics experts in this emerging area of knowledge.

RAD51D gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
OvarianTo age 503, 62.3%0.2%
To age 801, 3, 614.8%1.0%

RAD51D Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
OvarianConsider bilateral salpingo-oophorectomy (BSO).245 to 50 years, or earlier if there is a family history of ovarian cancer at a younger ageNA
Other than consideration of BSO, currently there are no specific medical management recommendations for ovarian cancer risk in mutation carriers. However, the increase in risk may warrant consideration of individualized ovarian cancer risk-reduction strategies using other currently available options, such as surveillance and the use of risk-reducing agents.2IndividualizedNA

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the RAD51D gene.

A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.

At this time, there are no known cancer risks for men due to mutations in RAD51D.


  1. Loveday C, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet. 2011 43:879-82. PMID: 21822267.
  2. Daly M et al. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic. V 1.2020. Dec 4. Available at http://www.nccn.org.
  3. Song H, et al. Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. J Clin Oncol. 2015 10:2901-7. PMID: 26261251.
  4. Wickramanyake A, et al. Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol. 2012 127:552-5. PMID: 22986143.
  5. Thompson ER, et al. Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer. PLoS One. 2013 8:e54772. PMID: 23372765.
  6. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. https://seer.cancer.gov/faststats. (Accessed on 1-2-2017)
Last Updated on 10-Dec-2020