Androgen receptor gene mutation in male breast cancer.
Abstract
We screened thirteen male breast cancers for the presence of germline mutations in exons 2 and 3 encoding the DNA-binding domain of the androgen receptor. These two exons were amplified from genomic DNA extracted from patients' white blood cells. In one of these thirteen patients, single strand conformation polymorphism and direct sequencing detected a guanine-adenine point mutation at nucleotide 2185 that changes Arg608 into Lys in a highly conserved region of the second zinc finger of the androgen receptor. This mutation occurred in a 38 year old man with partial androgen insensitivity syndrome and normal androgen-binding capacity in cultured genital skin fibroblasts. To our knowledge, only one germline Arg to Gln androgen receptor gene mutation has been previously reported at position 607 in male breast cancer. This androgen receptor mutation along with the Arg608 into Lys mutation we describe, suggests that this genetic abnormality is not fortuitous: a decrease in androgen action within the breast cells could account for the development of male breast cancer by the loss of a protective effect of androgens on these cells. Activation of estrogen regulated genes by the change of DNA-binding characteristics of the mutant androgen receptor cannot, however, be ruled out.
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There is genetic evidence in agreement with a protective role of androgens against breast cancer.
“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 [187]
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“PAIS. In three patients with PAIS and breast cancer a missense mutation in the binding domain was verifi ed in each case (Wooster et al. 1992; Lobaccaro et al. 1993 ).”
BackgroundDetection and purification of a novel 72 kDa glycoprotein male breast tumor associated antigen
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Androgens, DHEA and breast cancer
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Beyond sex determination: the Y chromosome in male cancers
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- Authors
- Lobaccaro, J.-M., Lumbroso, S., Belon, C., Galtier-Dereure, F., Bringer, J., Lesimple, T., Namer, M., Cutull, B. F., Pujol, H., & Sultan, C.
- Affiliations
- Inserm (FR)
- Hôpital Lapeyronie (FR)
- Centre Hospitalier Universitaire de Rennes (FR)
- Institut pour la Recherche sur le Cancer de Lille (FR)
- Corresponding author
- Sultan, Charles
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1993
- Volume
- 2
- Issue
- 11
- Pages
- 1799-1802
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W1964648775
- Cited by
- 135
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 3 · 2020: 1 · 2019: 1 · 2017: 3 · 2016: 1 · 2015: 3 · 2014: 5 · 2013: 4 · 2012: 2
- FWCI
- 13.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (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 › Estrogen and related hormone effects
- Keywords
- androgen receptor, male breast cancer, germline mutations, DNA-binding domain, zinc finger, partial androgen insensitivity syndrome, androgen insensitivity syndrome, androgen action
- MeSH terms
- Adult, Amino Acid Sequence, Base Sequence, Breast Neoplasms, DNA, DNA-Binding Proteins, Exons, Female, Humans, Leukocytes, Male, Men, Molecular Sequence Data, Pedigree, Polymorphism, Genetic, Receptors, Androgen, Skin, Polymerase Chain Reaction, Point Mutation, DNA Primers
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