Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (85)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Lobaccaro, J.-M.
Right arrow Articles by Sultan, C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Lobaccaro, J.-M.
Right arrow Articles by Sultan, C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1993 Oxford University Press

RESEARCH-ARTICLE

Androgen receptor gene mutation in male breast cancer

Jean-Marc Lobaccaro1, Serge Lumbroso1, Charles Belon1,+, Florence Galtier-Dereure2, Jacques Bringer2, Thierry Lesimple3, Moïse Namer4, Bruno F. Cutull5, Henri Pujol6 and Charles Sultan1,7,*

1Institut National de la Santé et de la Recherche Médicale, INSERM U58, 60 rue de Navacelles, 34090 Montpellier, and Unité de Biochimie Endocnnienne du Développement et de la Reproduction, Hôpital Lapeyronie Montpellier 2Service d'Endocnnologie, Hôpital Lapeyronie Montpellier 3Service d'Oncologie Médicale Rennes 4Centre Régional de Lutte contre le Cancer Nice 5Centre Régional de Lutte contre le Cancer Strasbourg 6Centre Régional de Lutte contre le Cancer Montpellier 7Endocnnologie et Gynécologie Pédiatnques, Service de Pédiatne I, Hôpital A. de Vaieneuve MontpeSier, France

*To whom correspondence should be addressed at: INSERM U58, 60 rue de Navacelles, 34090 Montpellier, France

Received August 5, 1993; Revised September 14, 1993; Accepted September 14, 1993

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 Gin 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.

+Permanent address: Laboratoire de Biochimie, Faculté de Pharmacie, Montpellier, France


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 The OncologistHome page
S. H. Giordano
A Review of the Diagnosis and Management of Male Breast Cancer
Oncologist, August 1, 2005; 10(7): 471 - 479.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
J. R. Weiss, K. B. Moysich, and H. Swede
Epidemiology of Male Breast Cancer
Cancer Epidemiol. Biomarkers Prev., January 1, 2005; 14(1): 20 - 26.
[Abstract] [Full Text] [PDF]

Home page
 JEMHome page
S. Yeh, Y.-C. Hu, P.-H. Wang, C. Xie, Q. Xu, M.-Y. Tsai, Z. Dong, R.-S. Wang, T.-H. Lee, and C. Chang
Abnormal Mammary Gland Development and Growth Retardation in Female Mice and MCF7 Breast Cancer Cells Lacking Androgen Receptor
J. Exp. Med., December 15, 2003; 198(12): 1899 - 1908.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Cancer Res.Home page
E. Kwiatkowska, M. Teresiak, V. Filas, A. Karczewska, D. Breborowicz, and A. Mackiewicz
BRCA2 Mutations and Androgen Receptor Expression as Independent Predictors of Outcome of Male Breast Cancer Patients
Clin. Cancer Res., October 1, 2003; 9(12): 4452 - 4459.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
S. Shin and I. M. Verma
BRCA2 cooperates with histone acetyltransferases in androgen receptor-mediated transcription
PNAS, June 10, 2003; 100(12): 7201 - 7206.
[Abstract] [Full Text] [PDF]

Home page
 Endocr. Rev.Home page
F. Labrie, V. Luu-The, C. Labrie, A. Belanger, J. Simard, S.-X. Lin, and G. Pelletier
Endocrine and Intracrine Sources of Androgens in Women: Inhibition of Breast Cancer and Other Roles of Androgens and Their Precursor Dehydroepiandrosterone
Endocr. Rev., April 1, 2003; 24(2): 152 - 182.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
E Kwiatkowska, I Brozek, E Izycka-Swieszewska, J Limon, and A Mackiewicz
Novel BRCA2 mutation in a Polish family with hamartoma and two male breast cancers
J. Med. Genet., July 1, 2002; 39(7): e35 - 35.
[Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
A. Giwercman, T. Kledal, M. Schwartz, Y. L. Giwercman, H. Leffers, H. Zazzi, A. Wedell, and N. E. Skakkebæk
Preserved Male Fertility Despite Decreased Androgen Sensitivity Caused by a Mutation in the Ligand-Binding Domain of the Androgen Receptor Gene
J. Clin. Endocrinol. Metab., June 1, 2000; 85(6): 2253 - 2259.
[Abstract] [Full Text]

Home page
 Jpn J Clin OncolHome page
A. Ozet, A. A. Yavuz, S. Komurcu, B. Ozturk, M. Safali, F. Arpaci, and Z. Caliskaner
Bilateral Male Breast Cancer and Prostate Cancer: A Case Report
Jpn. J. Clin. Oncol., April 1, 2000; 30(4): 188 - 190.
[Abstract] [Full Text] [PDF]

Home page
 CarcinogenesisHome page
A. M. Dunning, S. McBride, J. Gregory, F. Durocher, N. A. Foster, C. S. Healey, N. Smith, P. D. P. Pharoah, R. N. Luben, D. F. Easton, et al.
No association between androgen or vitamin D receptor gene polymorphisms and risk of breast cancer
Carcinogenesis, November 1, 1999; 20(11): 2131 - 2135.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Res.Home page
B. Csokay, N. Udvarhelyi, Z. Sulyok, I. Besznyak, S. Ramus, B. Ponder, and E. Olah
High Frequency of Germ-Line BRCA2 Mutations among Hungarian Male Breast Cancer Patients without Family History
Cancer Res., March 1, 1999; 59(5): 995 - 998.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
C.-P. Chen, S.-R. Chern, T.-Y. Wang, W. Wang, K.-L. Wang, and C.-J. Jeng
Androgen receptor gene mutations in 46,XY females with germ cell tumours
Hum. Reprod., March 1, 1999; 14(3): 664 - 670.
[Abstract] [Full Text] [PDF]

Home page
 Endocr. Rev.Home page
C. Lopez-Otin and E. P. Diamandis
Breast and Prostate Cancer: An Analysis of Common Epidemiological, Genetic, and Biochemical Features
Endocr. Rev., August 1, 1998; 19(4): 365 - 396.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
W. Weidemann, B. Peters, G. Romalo, K.-D. Spindler, and H.-U. Schweikert
Response to Androgen Treatment in a Patient with Partial Androgen Insensitivity and a Mutation in the Deoxyribonucleic Acid-Binding Domain of the Androgen Receptor
J. Clin. Endocrinol. Metab., April 1, 1998; 83(4): 1173 - 1176.
[Abstract] [Full Text]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.