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Research Article: Breast Cancer Research

Metadata Updated: July 24, 2025

Background The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of female breast cancer associated with a family history of breast cancer in a male first-degree relative is unclear.

      Methods
      We have carried out a population-based study of 94 MBC cases collected in the UK. We screened genomic DNA for mutations in BRCA1 and BRCA2 and used family history data from these cases to calculate the risk of breast cancer to female relatives of MBC cases. We also estimated the contribution of BRCA1 and BRCA2 to this risk.


      Results
      Nineteen cases (20%) reported a first-degree relative with breast cancer, of whom seven also had an affected second-degree relative. The breast cancer risk in female first-degree relatives was 2.4 times (95% confidence interval [CI] = 1.4–4.0) the risk in the general population. No BRCA1 mutation carriers were identified and five cases were found to carry a mutation in BRCA2. Allowing for a mutation detection sensitivity frequency of 70%, the carrier frequency for BRCA2 mutations was 8% (95% CI = 3–19). All the mutation carriers had a family history of breast, ovarian, prostate or pancreatic cancer. However, BRCA2 accounted for only 15% of the excess familial risk of breast cancer in female first-degree relatives.


      Conclusion
      These data suggest that other genes that confer an increased risk for both female and male breast cancer have yet to be found.

Access & Use Information

Public: This dataset is intended for public access and use. License: No license information was provided. If this work was prepared by an officer or employee of the United States government as part of that person's official duties it is considered a U.S. Government Work.

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Dates

Metadata Created Date July 24, 2025
Metadata Updated Date July 24, 2025

Metadata Source

Harvested from Healthdata.gov

Additional Metadata

Resource Type Dataset
Metadata Created Date July 24, 2025
Metadata Updated Date July 24, 2025
Publisher National Institutes of Health
Maintainer
NIH
Identifier https://healthdata.gov/api/views/bdtf-5rs9
Data First Published 2025-07-14
Data Last Modified 2025-07-23
Category NIH
Public Access Level public
Bureau Code 009:25
Metadata Context https://project-open-data.cio.gov/v1.1/schema/catalog.jsonld
Metadata Catalog ID https://healthdata.gov/data.json
Schema Version https://project-open-data.cio.gov/v1.1/schema
Catalog Describedby https://project-open-data.cio.gov/v1.1/schema/catalog.json
Harvest Object Id 3a0bb696-94d9-45dd-9573-f651030bc28a
Harvest Source Id 651e43b2-321c-4e4c-b86a-835cfc342cb0
Harvest Source Title Healthdata.gov
Homepage URL https://healthdata.gov/d/bdtf-5rs9
Program Code 009:033
Source Datajson Identifier True
Source Hash 466360966e79e470d4b485491226b9928b3ba55af160d8d36a33fedfc0757208
Source Schema Version 1.1

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