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Molecular characteristics of Asian male BRCA-related cancers

Breast Cancer Research and Treatment volume 198, pages 391–400 (2023)Cite this article

Abstract

Purpose

Germline mutations of BRCA1 or BRCA2 predispose men to develop various cancers, including breast cancers and prostate cancers. Male breast cancer (MBC) is a rare disease while prostate cancer (PRC) is uncommon in young men at the age of less than 40. The prevalence of BRCA genes in Asian male patients has to be elevated.

Methods

Germline mutations screening was performed in 98 high-risk Chinese MBC and PRC patients.

Result

We have identified 16 pathogenic BRCA2 mutation carriers, 12 were MBC patients, 2 were PRC patients and 2 were patients with both MBC and PRC. The mutation percentages were 18.8%, 6.7% and 50% for MBC, PRC and both MBC and PRC patients, respectively. BRCA2 gene mutations confer a significantly higher risk of breast/prostate cancers in men than those with BRCA1 mutations. BRCA mutated MBC patients had a younger age of diagnosis and strong family histories of breast cancers while BRCA mutated PRC patients had strong family histories of ovarian cancers.

Conclusion

Male BRCA carriers with breast cancers or prostate cancers showed distinct clinical and molecular characteristics, a male-specific genetic screening model would be useful to identify male cancer patients who have a high risk of BRCA mutation.

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Data Availability

The dataset supporting the conclusions of this article is included within the article and its additional files. Mutated sequences have been submitted to Genbank.

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Acknowledgements

We thank WP Luk and LH Fung for assisting in statistical analysis, Dona NY Ho and Elaine YL Wong from the Hong Kong Sanatorium & Hospital for assistance with sequencing. We would also like to thank doctors and nurses from the Department of Surgery, the University of Hong Kong, and members of the Hong Kong Breast Cancer research groups from the Departments of Surgery and Oncology of contributing Hospitals for recruitment of patients.

Funding

This study was supported by Dr. Ellen Li Charitable Foundation; Kerry Kuok Foundation; Health and Medical Research Fund (03143406); Asian Fund for Cancer Research and Hong Kong Hereditary Breast Cancer Family Registry.

Author information

Authors and Affiliations

  1. Department of Surgery, The University of Hong Kong, Hong Kong, China

    Ava Kwong & Vivian Yvonne Shin

  2. Department of Surgery, The University of Hong Kong-Shenzhen Hospital, Shenzhen, People’s Republic of China

    Ava Kwong

  3. Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong, China

    Ava Kwong

  4. Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, China

    Ava Kwong, Tsun Leung Chan & Edmond Shiu Kwan Ma

  5. Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & Hospital, Hong Kong, China

    Cecilia Yuen Sze Ho, Tsun Leung Chan & Edmond Shiu Kwan Ma

  6. Division of Urology, Department of Surgery, Queen Mary Hospital, Hong Kong, China

    Ada Tsui Lin Ng

Authors
  1. Ava Kwong
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  2. Cecilia Yuen Sze Ho
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  3. Vivian Yvonne Shin
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Contributions

All authors contributed to the study conception and design. AK designed and coordinated prospective data collection for the Hong Kong Hereditary Breast Cancer Family Registry. CYSH retrieved and collected data for this particular study, interpreted the results and drafted the manuscript. AK, VYS, ATLN, TLC and ESKM reviewed the manuscript. All authors have read and approved the final version of the manuscript.

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Correspondence to Ava Kwong.

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The authors declare that they have no competing interests.

Ethical approval

This study was approved by the Institutional Review Board of the University of Hong Kong/Hospital Authority West Cluster and other contributing hospitals in Hong Kong (UW06–274 T1299) and was conducted in accordance with the Declaration of Helsinki. Related participants provided written informed consent for sample and data collection in this study.

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Kwong, A., Ho, C.Y.S., Shin, V.Y. et al. Molecular characteristics of Asian male BRCA-related cancers. Breast Cancer Res Treat 198, 391–400 (2023). https://doi.org/10.1007/s10549-022-06651-y

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Keywords

  • BRCA
  • Male breast cancers
  • Asian
  • Prostate cancer