Cited by 250Male Breast Health StudiesSexual Differentiation and DisordersBRCA gene mutations in cancer

A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome

Wooster, Richard, Mangion, Jonathan, Eeles, Rosalind, Smith, Simon, Dowsett, Mitchell, Averill, Diane, Barrett-Lee, Peter, Easton, Douglas F. +2 more·1992·Nature Genetics

Abstract

Breast cancer in men is rare--among the risk factors that have been identified are a family history of breast cancer and evidence of androgen insufficiency. We report a family in which two brothers who both developed breast cancer had clinical and endocrinological evidence of androgen resistance. Sequence analysis revealed a mutation in the androgen receptor gene on the X chromosome, within the region encoding the DNA binding domain. This is the first report of a germline mutation in a member of the steroid/thyroid hormone receptor superfamily associated with the development of cancer.

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Crossref · 10.1038/ng1092-132

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Authors
Wooster, R., Mangion, J., Eeles, R., Smith, S., Dowsett, M., Averill, D., Barrett-Lee, P., Easton, D. F., Ponder, B. A. J., & Stratton, M. R.
Affiliations
  • Institute of Cancer Research (GB)
  • University of Cambridge (GB)
  • Royal Marsden NHS Foundation Trust (GB)
Venue
Nature Genetics
Published
1992-10
Volume
2
Issue
2
Pages
132-134
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2015688351
Cited by
250
References
26
Citations by year
2026: 1 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 1 · 2021: 3 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 2 · 2016: 3 · 2015: 7 · 2014: 5 · 2013: 4 · 2012: 2
FWCI
22.88
Type
journal article
Language
en
Open access
closed
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Male Breast Health Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords
androgen receptor, germline mutations, male breast cancer, androgen insensitivity syndrome, androgen resistance, X chromosome, DNA-binding domain, family history of breast cancer, steroid/thyroid hormone receptor superfamily, cancer susceptibility
MeSH terms
Aged, Base Sequence, Breast Neoplasms, DNA, DNA Mutational Analysis, Female, Germ Cells, Humans, Hypogonadism, Male, Middle Aged, Molecular Sequence Data, Pedigree, Receptors, Androgen, Syndrome, Point Mutation

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