RAD51C Gene Mutations

RAD51C ASSOCIATED CANCER RISKS

 BREASTOVARIANGASTRICCOLORECTALPANCREATICMELANOMAPROSTATEENDOMETRIALOTHER

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Additional Information

RAD51C gene

Associated Syndrome Name: RAD51C-associated Cancer Risk (Women only)

RAD51C Summary Cancer Risk Table

Cancer Genetic Cancer Risk
OvarianHigh Risk

RAD51C gene Overview

RAD51C-associated Cancer Risk (Women only) 1, 2, 3, 4, 5
  • Women with RAD51C mutations have an increased risk for ovarian cancer. Although the actual increase in risk is currently estimated to be moderate in size, there are some indications that the risk for ovarian cancer might be higher in families in which there is a past history of ovarian cancer.
  • There are some studies showing that women with mutations in RAD51C 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 RAD51C.
  • Although there are high cancer risks for patients with mutations in RAD51C, 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 RAD51C 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.

RAD51C gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
OvarianTo age 503, 61.0%0.2%
To age 802, 3, 4, 5, 66.7%1.0%

RAD51C 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).145 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.1IndividualizedNA

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 RAD51C 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.

In rare instances, an individual may inherit mutations in both copies of the RAD51C gene, which may lead to a Fanconi Anemia-like disorder. This condition has only been seen in 2 siblings with physical abnormalities, short stature and abnormal chromosome breakage test results. The children of this patient are at risk of inheriting this condition only if the other biological parent is also a carrier of a RAD51C mutation. This is highly unlikely, due to the rarity of RAD51C mutations.7

At this time, there are no known cancer risks for men due to mutations in RAD51C.

References

  1. 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.
  2. Meindl A, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet. 2010 42:410-4. PubMed PMID: 20400964.
  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. Pelttari LM, et al. RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet. 2011 20:3278-88. PMID: 21616938.
  5. Loveday C, et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet. 2012 44:475-6. PMID: 22538716.
  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)
  7. Vaz F, et al. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010 42:406-9. PMID: 20400963.
Last Updated on 10-Dec-2020