The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome
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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“There is also genetic evidence in agreement with a protective role of androgens against breast cancer (186, 187).”
From Endocrine and intracrine sources of androgens in women: inhibition of breast cancer and other roles of androgens and their precursor dehydroepiandrosterone (2003) · cites this paper as [186]
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Androgen Receptor Defects: Historical, Clinical, and Molecular Perspectives*
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Labrie, F., Luu-The, V., Labrie, C., Bélanger, A., Simard, J., Lin, S.-X., & Pelletier, G. (2003) · Endocrine Reviews · doi:10.1210/er.2001-0031 · Cited by 544
Metadata
- 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
- 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
- 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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