Association of RAD51C germline mutations with breast cancer among Bahamians

Abstract

Purpose

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.

Methods

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.

Results

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.

Conclusions

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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Abbreviations

LOH:

Loss of heterozygosity

VUS:

Variant of unknown significance

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Funding

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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The authors declare that they have no conflict of interest.

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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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Informed consent was obtained from all individual participants included in the study.

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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). https://doi.org/10.1007/s10549-020-05872-3

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Keywords

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