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

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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., Ponder, Bruce A.J., Stratton, Michael R.·1992·Nature Genetics

DOI 10.1038/ng1092-132

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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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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)
ORCID: Mangion, Jonathan
Eeles, Rosalind
Smith, Simon
Barrett-Lee, Peter
Easton, Douglas F.
Stratton, Michael R.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1992-10
Volume: 2
Issue: 2
Pages: 132-134
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1092-132
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
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
Topics: Health Sciences › Medicine › Oncology › Male Breast Health Studies
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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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A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome

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