Association of RAD51C germline mutations with breast cancer among Bahamians



RAD51C is known as an ovarian cancer gene; however, its role in breast cancer susceptibility is less clear. As part of a larger study, we assessed the role of germline RAD51C mutations in breast cancer development.


We studied 387 unselected, BRCA1- and BRCA2-negative, Bahamian breast cancer cases and 653 controls to search for novel genetic associations with breast cancer development. During the first phase of the study, whole exome sequencing was utilized in 96 cases to identify an association between novel genes and breast cancer susceptibility. In the second phase of the study, targeted gene sequencing was utilized in the entirety of the cases and controls to identify an association between novel genetic mutations and breast cancer development.


A RAD51C mutation was found in five breast cancer cases and in no control (5/387 versus 0/653; p = 0.007). None of the mutation-positive cases reported a family history of ovarian cancer.


These data support increasing evidence that RAD51C mutations contribute to breast cancer susceptibility, although the impact may vary substantially from country to country.

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Loss of heterozygosity


Variant of unknown significance


  1. 1.

    Donenberg T, Lunn J, Curling D et al (2011) A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat 125(2):591–596

    Article  Google Scholar 

  2. 2.

    Akbari MR, Donenberg T, Lunn J et al (2014) The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. Clin Genet 85(1):64–67

    CAS  Article  Google Scholar 

  3. 3.

    Meindl A, Hellebrand H, Wiek C et al (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42(5):410–414

    CAS  Article  Google Scholar 

  4. 4.

    Shimelis H, LaDuca H, Hu C et al (2018) Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing. J Natl Cancer Inst 110(8):855–862

    Article  PubMed  PubMed Central  Google Scholar 

  5. 5.

    Li N, McInerny S, Zethoven M et al (2019) Combined tumor sequencing and case/control analyses of RAD51C in breast cancer. J Natl Cancer Inst 111(12):1332–1338

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  6. 6.

    Carter NJ et al (2018) Germline pathogenic variants identified in women with ovarian tumors. Gynecol Oncol 151(3):481–488

    Article  Google Scholar 

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This study was funded by Canadian Cancer Society Research Institute (Grant No. 316355).

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Correspondence to Mohammad R. Akbari.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Bagherzadeh, M., Szymiczek, A., Donenberg, T. et al. Association of RAD51C germline mutations with breast cancer among Bahamians. Breast Cancer Res Treat 184, 649–651 (2020).

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  • Hereditary breast cancer
  • Breast cancer genetics
  • RAD51C mutations
  • Gene discovery