The DOI matches its Crossref record.
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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Citations
Cited by
Sorted by citations
Androgen receptor: structure, role in prostate cancer and drug discovery
Tan, M.-H., Li, J., Xu, H. E., Melcher, K., & Yong, E. (2014) · Acta Pharmacologica Sinica · doi:10.1038/aps.2014.18 · Cited by 1,000
Fentiman, I. S., Fourquet, A., & Hortobágyi, G. N. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68226-3 · Cited by 793
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
“There is also genetic evidence in agreement with a protective role of androgens against breast cancer (186, 187).”
BackgroundBreast cancer genetics: What we know and what we need
Nathanson, K. L., Wooster, R., & Weber, B. L. (2001) · Nature Medicine · doi:10.1038/87876 · Cited by 474
“Two germline mutations in the androgen receptor gene have been reported as susceptibility alleles for male breast cancer, both in the zinc finger and both in families with clinical evidence of androgen insensitivity, but analysis of larger series has not identified additional mutations, indicating that this is a rare…”
Epidemiology of male breast cancer
Konduri, S. D., Singh, M., Bobustuc, G. C., Rovin, R., & Kassam, A. B. (2020) · The Breast · doi:10.1016/j.breast.2020.08.010 · Cited by 424
A Review of the Diagnosis and Management of Male Breast Cancer
Giordano, S. H. (2005) · The Oncologist · doi:10.1634/theoncologist.10-7-471 · Cited by 347
Epidemiology of Male Breast Cancer
Weiss, J. R., Moysich, K. B., & Swede, H. (2005) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.20.14.1 · Cited by 332
“Alternatively, the role of AR mutations in MBC may relate to the reduction in androgen levels, and subsequent elevated estrogen/androgen activity ratio may promote breast cancer development in men (21, 46, 50).”
BackgroundThe androgen receptor gene mutations database
Gottlieb, B. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.1.151 · Cited by 271
The genetics of breast and ovarian cancer.
Ford, D., & Easton, D. (1995) · British Journal of Cancer · doi:10.1038/bjc.1995.417 · Cited by 299
Breast and Prostate Cancer: An Analysis of Common Epidemiological, Genetic, and Biochemical Features
López-Otı́n, C., & Diamandis, E. P. (1998) · Endocrine Reviews · doi:10.1210/edrv.19.4.0337 · Cited by 213
“The interest in AR as a potential factor common to both tumors arises from recent observations indicating that genetic abnormalities in this hormonal receptor are shared by these two hormonally dependent tumors, but admittedly in only a small proportion of patients (53-62).”
BackgroundInfluentialStructural determinants of DNA-binding specificity by steroid receptors
Zilliacus, J., Wright, A. P. H., Carlstedt‐Duke, J., & Gustafsson, J. (1995) · Molecular Endocrinology · doi:10.1210/mend.9.4.7659083 · Cited by 199
Phenotypic heterogeneity of mutations in androgen receptor gene
Rajender, S., Singh, L., & Kumarasamy Thangaraj, K. (2007) · Asian Journal of Andrology · doi:10.1111/j.1745-7262.2007.00250.x · Cited by 160
Yeh, S., Hu, Y., Wang, P., Xie, C. L., Xu, Q., Tsai, M., Dong, Z., Wang, R.-S., Lee, T., & Chang, C. (2003) · The Journal of Experimental Medicine · doi:10.1084/jem.20031233 · Cited by 148
“Next, because an AR mutant (AR-R608K) has been suggested to be associated with male breast cancer (31), we were interested to know its effect on the MAPK activation.”
BackgroundEffect of Smoking on Breast Cancer in Carriers of Mutant BRCA1 or BRCA2 Genes
Brunet, J., Ghadirian, P., Rebbeck, T. R., Lerman, C., Garber, J. E., Tonin, P. N., Abrahamson, J., Foulkes, W. D., Daly, M., Costalas, J. W., et al. (1998) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/90.10.761 · Cited by 145
No association between androgen or vitamin D receptor gene polymorphisms and risk of breast cancer
Dunning, A. M., McBride, S. E., Gregory, J., Durocher, F., Foster, N. A., Healey, C. S., Smith, N., Pharoah, P. D. P., Luben, R., Easton, D. F., et al. (1999) · Carcinogenesis · doi:10.1093/carcin/20.11.2131 · Cited by 116
The Androgen Receptor in Prostate Cancer
Trapman, J., & Brinkmann, A. O. (1996) · Pathology - Research and Practice · doi:10.1016/s0344-0338(96)80097-5 · Cited by 105
Greene, M. H. (1997) · Mayo Clinic Proceedings · doi:10.4065/72.1.54 · Cited by 102
Apocrine carcinoma of the breast: a comprehensive review.
Vranić, S., Schmitt, F. C., Sapino, A., Costa, J. L., Reddy, S. B., Castro, M. P., & Gatalica, Z. (2013) · PubMed · doi:10.14670/hh-28.1393 · Cited by 100
Endocrinology of gynaecomastia
Ismail, A. A. A., & Barth, J. H. (2001) · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · doi:10.1258/0004563011900993 · Cited by 93
The genetic contribution to the phenotype
Wolf, U. (1995) · Human Genetics · doi:10.1007/bf00209392 · Cited by 87
“In two male patients with breast cancer, constitutional point mutations have been identified in codons 607/608 of the DNA-binding domain associated with PAlS (Wooster et al. 1992; Lobaccaro et al. 1993).”
BackgroundKwiatkowska, E. P., Teresiak, M., Filas, V., Karczewska, A., Breborowicz, D., & Mackiewicz, A. A. (2003) · PubMed · Cited by 85
Proliferative activity and steroid hormone receptor status in male breast carcinoma
Muñoz-de-Toro, M. M., Maffini, M. V., Kass, L., et al. (1998) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/s0960-0760(98)00124-1 · Cited by 83
BRCA2 cooperates with histone acetyltransferases in androgen receptor-mediated transcription
Shin, S., & Verma, I. M. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1132020100 · Cited by 80
Csókay, B., Udvarhelyi, N., Sulyok, Z., et al. (1999) · PubMed · Cited by 79
An update on male breast cancer and future directions for research and treatment
Sousa, B., Moser, E. C., & Cardoso, F. (2013) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2013.03.037 · Cited by 78
The androgen receptor CAG repeat: a modifier of carcinogenesis?
Ferro, P., Catalano, M. G., Dell’Eva, R., Fortunati, N., & Pfeffer, U. (2002) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(02)00104-1 · Cited by 73
Expression of androgen receptor and prostate-specific antigen in male breast carcinoma
Kidwai, N., Gong, Y. Y., Sun, X., Deshpande, C. G., Yeldandi, A. V., Rao, M. S., & Badve, S. (2003) · Breast Cancer Research · doi:10.1186/bcr733 · Cited by 72
“They have therefore been considered protective agents in the etiopathogenesis of male breast cancer [5,6,11].”
BackgroundThe paracrine role of tumour-derived mIL-4 on tumour-associated endothelium
Saleh, M., Davis, I. D., & Wilks, A. F. (1997) · International Journal of Cancer · doi:10.1002/(sici)1097-0215(19970807)72:4 · Cited by 59
Sasano, H., Kimura, M., Shizawa, S., Kimura, N., & Nagura, H. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.8.8768875 · Cited by 83
Androgen receptors and their biology
Lamb, D. J., Weigel, N. L., & Marcell, M. (2001) · Vitamins and hormones · doi:10.1016/s0083-6729(01)62005-3 · Cited by 69
Androgen receptor gene mutations in 46,XY females with germ cell tumours
Chen, C. P. (1999) · Human Reproduction · doi:10.1093/humrep/14.3.664 · Cited by 61
Giwercman, A., Kledal, T. N., Schwartz, M., Giwercman, Y. L., Leffers, H. C. B., Zazzi, H., Wedell, A., & Skakkebæk, N. E. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.6.6626 · Cited by 60
“Mutations in the AR have been linked to prostatic carcinoma (4) and breast cancer (5) in males, but the classical phenotypical expression of AR mutation is the clinical condition called androgen insensitivity syndrome (AIS).”
Akçay, T., Fernández‐Cancio, M., Turan, S., Güran, T., Audí, L., & Bereket, A. (2014) · Andrology · doi:10.1111/j.2047-2927.2014.00215.x · Cited by 59
“…al., 2006; Appari et al., 2009; Audi et al., 2010; Bhangoo et al., 2010; Hughes et al., 2012; Kalfa et al., 2013), p.R609K (Saunders et al., 1992; Lobaccaro et al., 1993; Tincello et al., 1997; Hiort et al., 1998; Ahmed et al., 2000; Wu et al., 2011), p.R775H (Batch et al., 1992; De Bellis et…”
Genetic Landscape of Male Breast Cancer
Campos, F. A. B., Rouleau, É., Torrezan, G. T., Carraro, D. M., da Rocha, J. C. C., Mantovani, H. K., da Silva, L. R., Osório, C. A. B. D. T., Sanches, S. M., Caputo, S. M., et al. (2021) · Cancers · doi:10.3390/cancers13143535 · Cited by 58
The androgen receptor: Physiology and pathophysiology
Quigley, C. A. (1998) · Springer eBooks · doi:10.1007/978-3-642-72185-4_2 · Cited by 50
Male breast cancer: a gender issue
Nahleh, Z. A., & Girnius, S. K. (2006) · Nature Clinical Practice Oncology · doi:10.1038/ncponc0564 · Cited by 52
“It has been suggested that the AR can bind to estrogen response elements in the AR promoter and activate estrogen-regulated genes”
BackgroundDefects of androgen receptor function: from sex reversal to motor neurone disease.
Maclean, H. E., Warne, G., & Zajac, J. D. (1995) · Molecular and Cellular Endocrinology · doi:10.1016/0303-7207(95)03608-a · Cited by 52
CHEK2*1100delC and male breast cancer risk in Israel
Ohayon, T., Gal, I., Baruch, R. G., Szabo, C., & Friedman, E. (2003) · International Journal of Cancer · doi:10.1002/ijc.11603 · Cited by 50
THE GENETIC BASIS OF BREAST CANCER AND ITS CLINICAL IMPLICATIONS
Bennett, I., Gattas, M. R., & Teh, B. T. (1999) · Australian and New Zealand Journal of Surgery · doi:10.1046/j.1440-1622.1999.01515.x · Cited by 47
BRCA2 germ-line mutations in Spanish male breast cancer patients
Dı́ez, O., Cortés, J. M., Domènech, M., et al. (2000) · Annals of Oncology · doi:10.1023/a:1008339009528 · Cited by 50
“Although mutations in the androgen receptor gene AR have been found in two families with male BC [7], there is much more evidence that inherited BRCA2 mutations increase the risk for male BC.”
BackgroundResultWeidemann, W. M., Peters, B., Romalo, G., Spindler, K., & Schweikert, H. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.4.4704 · Cited by 49
Androgens in Health and Disease
Bagatell, C. J., & Bremner, W. J. (2003) · Humana Press eBooks · doi:10.1385/1592593887 · Cited by 56
Nuclear receptors and disease: androgen receptor
Gottlieb, B., Beitel, L. K., Wu, J., Elhaji, Y. A., & Trifiro, M. A. (2004) · Essays in Biochemistry · doi:10.1042/bse0400121 · Cited by 45
“In the LBD there is a striking preponderance of missense mutations with a significantly greater number of CAIS than PAIS cases (Table 1).”
BackgroundInfluentialThe genetics of familial breast cancer and their practical implications.
Eeles, R., Stratton, M. R., Goldgar, D. E., & Easton, D. (1994) · European Journal of Cancer · doi:10.1016/0959-8049(94)90190-2 · Cited by 45
Poujol, N., Lobaccaro, J. A., Chiche, L., Lumbroso, S., & Sultan, C. (1997) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(97)00072-5 · Cited by 42
Self-citationAndrogen Receptor Gene Alterations in Finnish Male Breast Cancer
Syrjäkoski, K., HYYTINEN, E.-R., Kuukasjärvi, T., Auvinen, A. P., Kallioniemi, O., Kainu, T., & Koivisto, P. A. (2003) · Breast Cancer Research and Treatment · doi:10.1023/a:1021369508561 · Cited by 42
“[8] analysed exons 2–3 from 13 MBC patients and found an Arg608Lys substitution in a patient with partial androgen insensitivity syndrome.”
BackgroundInfluentialInherited breast cancer: an emerging picture
Welcsh, P., Schubert, E. L., & King, M. (1998) · Clinical Genetics · doi:10.1111/j.1399-0004.1998.tb03764.x · Cited by 42
Dehydroepiandrosterone, androgens and the mammary gland
Labrie, F. (2006) · Gynecological Endocrinology · doi:10.1080/09513590600624440 · Cited by 39
“There is also genetic evidence in agreement with a protective role of androgens against breast cancer [100,101].”
BackgroundCouillard, S., Labrie, C., Bélanger, A., Candas, B., Pouliot, F., & Labrie, F. (1998) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/90.10.772 · Cited by 38
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
Sohocki, M. M., Daiger, S. P., Bowne, S. J., Rodriquez, J. A., Northrup, H., Heckenlively, J. R., Birch, D. G., Mintz-Hittner, H. A., Ruiz, R. S., Lewis, R. A., et al. (2000) · Human Mutation · doi:10.1002/1098-1004(2001)17:1 · Cited by 328
Hill, A. D., Doyle, J. M., Mcdermott, E., & O'Higgins, N. (1997) · British Journal of Surgery · doi:10.1111/j.1365-2168.1997.00527.x · Cited by 21
Aarnisalo, P., Santti, H., Poukka, H., Palvimo, J. J., & Jänne, O. A. (1999) · Endocrinology · doi:10.1210/endo.140.7.6792 · Cited by 37
The Androgen Receptor: Structure, Mutations, and Antiandrogens
Hirawat, S., Budman, D. R., & Kreis, W. (2003) · Cancer Investigation · doi:10.1081/cnv-120018232 · Cited by 34
“Androgen insensitivity has been suggested to result in an increased risk of male breast cancer([86,87]) due to withdrawal of the protective effect of androgens.”
BackgroundInfluentialMale breast cancer: An 11 year review of 66 patients
McLachlan, S., Erlichman, C., Liu, F., et al. (1996) · Breast Cancer Research and Treatment · doi:10.1007/bf01806810 · Cited by 33
“Other genetic abnormalities have been reported in association with male breast cancer cases including mutations of the androgen receptor [20].”
BackgroundGenetic Heterogeneity in Breast Cancer Susceptibility
Andersen, T. I. (1996) · Acta Oncologica · doi:10.3109/02841869609109913 · Cited by 33
Increased frequency of long androgen receptor CAG repeats in male breast cancers
MacLean, H. E., Brown, R. W., Beilin, J., Warne, G. L., & Zajac, J. D. (2004) · Breast Cancer Research and Treatment · doi:10.1007/s10549-004-0781-6 · Cited by 31
“Specific mutations in the AR have been identified in partial androgen insensitivity syndrome (AIS) and breast cancer [12, 13], and AR splice variants have been identified in female breast cancers [14].”
BackgroundExpression of Structurally Unaltered Androgen Receptor in Extramammary Paget's Disease
Fujimoto, A., Takata, M., Hatta, N., & Takehara, K. (2000) · Laboratory Investigation · doi:10.1038/labinvest.3780153 · Cited by 30
“…in 10 tumors excised from 8 advancedstage cases of EMPD, because mutations of the androgen receptor gene may confer a growth advantage in prostate cancer (Gaddipati et al, 1994; Newmark et al, 1992; Taplin et al, 1995; Tilley et al, 1996) as well as in male breast cancer (Lobaccaro et al, 1993).”
BackgroundGenes responsible for familial breast cancer.
Cornelisse, C., Cornelis, R., & Devilee, P. (1996) · Pathology, Research and Practice · doi:10.1016/s0344-0338(96)80090-2 · Cited by 25
Male Breast Cancer: From Molecular Genetics to Clinical Management
Pensabene, M., von Arx, C., & Laurentiis, M. D. (2022) · Cancers · doi:10.3390/cancers14082006 · Cited by 34
“Germline mutations in the androgen receptor (AR) gene have been associated with increased risk of MBC [23].”
BackgroundRole of the X Chromosome in Cancer
Brown, C. J. (1996) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/88.8.480 · Cited by 27
Radford, D., & Zehnbauer, B. (1996) · Surgical Clinics of North America · doi:10.1016/s0039-6109(05)70434-5 · Cited by 16
Loss of heterozygosity on the X chromosome in human breast cancer
Loupart, M., Adams, S., Armour, J. A. L., Walker, R. A., Brammar, W. J., & Varley, J. M. (1995) · Genes Chromosomes and Cancer · doi:10.1002/gcc.2870130402 · Cited by 25
Savelyeva, L., Claas, A., Gier, S., et al. (1998) · PubMed · Cited by 24
Androgen receptor and antiandrogen therapy in male breast cancer
Lauro, L. D., Barba, M., Pizzuti, L., Vici, P., Sergi, D., Benedetto, A. D., Mottolese, M., Speirs, V., Santini, D., Maria, R. D., et al. (2015) · Cancer Letters · doi:10.1016/j.canlet.2015.07.040 · Cited by 21
Hill, A. D. K., Doyle, J., McDermott, E. W. M., et al. (1997) · British journal of surgery · doi:10.1002/bjs.1800841004 · Cited by 21
Kumar, A., Sharma, R., Faruq, M., Kumar, M., Sharma, S., Werner, R., Hiort, O., & Jain, V. (2021) · Sexual Development · doi:10.1159/000519047 · Cited by 20
The role of androgen receptor gene mutations in male breast carcinoma
Hiort, O., Naber, S. P., Lehners, A., Muletta-Feurer, S., Sinnecker, G. H. G., Zollner, A. N., & Komminoth, P. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.9.8784104 · Cited by 20
Song, Y., Geng, J., Liu, T., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052271 · Cited by 18
“Germline mutations in the AR gene have also been suggested to predispose to MBC [2].”
BackgroundThe management of familial breast cancer
Bennett, I., Gattas, M. R., & Teh, B. T. (2000) · The Breast · doi:10.1054/brst.2000.0208 · Cited by 19
Winchester, D. J. (1996) · Seminars in Surgical Oncology · doi:10.1002/(sici)1098-2388(199609/10)12:5 · Cited by 18
Lobaccaro, J. A., Lumbroso, S., Poujol, N., Georget, V., Brinkmann, A. O., Malpuech, G., & Sultan, C. (1995) · Molecular and Cellular Endocrinology · doi:10.1016/0303-7207(95)03542-f · Cited by 17
“…from peripheral blood lymphocytes by phenol-chlorophorm extraction and ethanol precipitation, and the eight exons of the AR gene were amplified by enzymatic amplification (PCR) and analyzed by single-strand conformation polymorphism (SSCP) methods as previously described (Lobaccaro et al., 1993).”
MethodSelf-citationBilateral Male Breast Cancer and Prostate Cancer: A Case Report
Özet, A. (2000) · Japanese Journal of Clinical Oncology · doi:10.1093/jjco/hyd050 · Cited by 15
“androgen receptor mutations (15,16), (b) the loss of hetero-”
BackgroundThe Role of Androgens in Normal and Malignant Breast Tissue
Tiefenbacher, K., & Daxenbichler, G. (2008) · Breast Care · doi:10.1159/000158055 · Cited by 15
Liu, Y., Li, C. G., & Zhou, S. (2009) · Drug Metabolism Letters · doi:10.2174/187231209790218145 · Cited by 14
Founds, S. A. (2011) · Journal of Perinatal Medicine · doi:10.1515/jpm.2011.045 · Cited by 12
Malucelli, A., Sauerwein, H., Pfaffl, M. W., & MEYER, H. H. D. (1996) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/0960-0760(96)00077-5 · Cited by 12
Muñoz‐de‐Toro, M., & Luque, E. H. (1997) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/s0960-0760(96)00221-x · Cited by 11
“Another possibility is that a muta ted androgen receptor acquires the ability to bind to the estrogen response element activating estrogen-regulated genes [39, 40].”
BackgroundBreast cancer genes: looking for BRACA's lost brother.
Cornejo-Moreno, B. A., Uribe-Escamilla, D., & Salamanca-Gómez, F. (2014) · PubMed · Cited by 12
Prognostic Indicators in Male Breast Carcinoma
Moore, J., Friedman, M. I., Gansler, T. S., et al. (1998) · The Breast Journal · doi:10.1046/j.1524-4741.1998.440261.x · Cited by 12
Labrie, F. (2006) · Endocrine Related Cancer · doi:10.1677/erc.1.00883 · Cited by 12
“There is also genetic evidence indicating a protective role of androgens against breast cancer (Wooster et al. 1992, Lobaccaro et al. 1993).”
Estrogens and Antiestrogens in the Male
Oettel, M. (1999) · Handbook of experimental pharmacology · doi:10.1007/978-3-642-60107-1_25 · Cited by 11
Androgen receptor and estrogen receptor variants in prostate and breast cancers
López, J. C. V., Lange, C. A., & Dehm, S. M. (2024) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2024.106522 · Cited by 13
Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome
Patjamontri, S., Lucas-Herald, A. K., Bryce, J., van den Akker, E. L. T., Cools, M., Globa, E., Guerra‐Júnior, G., Hiort, O., Hofman, P. L., Holterhus, P., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae562 · Cited by 12
“Breast cancer has been reported in men with PAIS, and its risk may increase with increasing age (35, 37-39).”
Rajender, S., Francis, A., Singh, P., Krupakar, N., Surekha, D., Reddy, G., Rao, D. R., Rao, L., Ramachandra, S., Vishnupriya, S., et al. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-010-1263-7 · Cited by 11
Familial breast cancer and genes involved in breast carcinogenesis
Lindblom, A. (1995) · Breast Cancer Research and Treatment · doi:10.1007/bf00665789 · Cited by 11
“Moreover, thirteen male breast cancers were screened for germline mutations in exons 2 and 3 encoding the DNA-binding domain of the androgen receptor and one mutation was found [94].”
BackgroundSyndromes associated with Homo sapiens Pol II regulatory genes
Bina, M., Demmon, S. L., & Parés-Matos, E. I. (2000) · Progress in nucleic acid research and molecular biology · doi:10.1016/s0079-6603(00)64005-9 · Cited by 10
Biomarkers, Critical Disease Pathways, Drug Targets, and Alternative Medicine in Male Breast Cancer
Barh, D. (2009) · Current Drug Targets · doi:10.2174/138945009787122842 · Cited by 9
Prognostic Factors of Male Breast Cancer: Proteomic Approaches for Early Detection and Treatment
George, J., & Shukla, Y. (2008) · Journal of Proteomics & Bioinformatics · doi:10.4172/jpb.1000018 · Cited by 9
“Germ line mutations in the androgen receptor (AR) gene have also been suggested to predispose to MBC (Lobaccaro et al., 1993).”
BackgroundWieacker, P. F., & Ledig, S. (2011) · Medizinische Genetik · doi:10.1007/s11825-011-0275-y · Cited by 7
Mies, C., & Voigt, W. (1996) · Diagnostic Molecular Pathology · doi:10.1097/00019606-199603000-00007 · Cited by 7
BRCA/Fanconi anemia pathway genes in hereditary predisposition to breast cancer
Sólyom, S. (2011) · Cited by 7
Novel BRCA2 mutation in a Polish family with hamartoma and two male breast cancers
Kwiatkowska, E. P., Brozek, I., Iżycka‐Świeszewska, E., Limon, J., & Mackiewicz, A. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.7.e35 · Cited by 6
5α-reductase inhibitors/finasteride
Stoner, E. (1996) · The Prostate · doi:10.1002/(sici)1097-0045(1996)6+ · Cited by 26
Disorders of Androgen Target Organs
Wieacker, P. F., Behre, H. M., & Nieschlag, E. (2010) · Springer eBooks · doi:10.1007/978-3-540-78355-8_17 · Cited by 5
“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
Basu, A., Basu, I., Chakraborty, A., et al. (2003) · International Journal of Cancer · doi:10.1002/ijc.11061 · Cited by 4
Androgens, DHEA and breast cancer
Labrie, F., Poulin, R., Simard, J., Luu-The, V., Labrie, C., & Bélanger, A. (2005) · CRC Press eBooks · doi:10.1201/b14632-13 · Cited by 4
Beyond sex determination: the Y chromosome in male cancers
Abdel-Hafiz, H. A., Hoelzen, L., & Theodorescu, D. (2026) · Nature reviews. Cancer · doi:10.1038/s41568-026-00935-x · Cited by 6
Vetto, J. T. (2010) · Springer eBooks · doi:10.1007/978-3-540-69743-5_25 · Cited by 3
Jenster, G. W., Trapman, J., & Brinkmann, A. O. (2001) · Elsevier eBooks · doi:10.1016/b978-012146160-7/50005-6 · Cited by 3
Antibody therapy to limit the spread of Ebola virus.
Rager‐Zisman, B. (2014) · PubMed · Cited by 2
Metadata
- 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 › Oncology › Male Breast Health Studies
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
