{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T01:12:25Z","timestamp":1791335545906,"version":"4.3.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1992,10,1]],"date-time":"1992-10-01T00:00:00Z","timestamp":717897600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1992,10]]},"DOI":"10.1038\/ng1092-132","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:42:36Z","timestamp":1092861756000},"page":"132-134","source":"Crossref","is-referenced-by-count":187,"title":["A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome"],"prefix":"10.1038","volume":"2","author":[{"given":"Richard","family":"Wooster","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Mangion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalind","family":"Eeles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell","family":"Dowsett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Averill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Barrett-Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas F.","family":"Easton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce A.J.","family":"Ponder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Stratton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng1092132_CR1","doi-asserted-by":"publisher","first-page":"1165","DOI":"10.1016\/S0039-6109(16)45237-0","volume":"70","author":"RW Crichlow","year":"1990","unstructured":"Crichlow, R.W. & Galt, S.W. Male breast cancer. Surg. Clinics N. America 70, 1165\u20131177 (1990).","journal-title":"Surg. Clinics N. America"},{"key":"BFng1092132_CR2","first-page":"845","volume":"8","author":"DP Rose","year":"1988","unstructured":"Rose, D.P. Endocrine epidemiology of male breast cancer. Anticancer Res. 8, 845\u2013850 (1988).","journal-title":"Anticancer Res."},{"key":"BFng1092132_CR3","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1093\/oxfordjournals.aje.a116360","volume":"135","author":"DB Thomas","year":"1992","unstructured":"Thomas, D.B. et al. Breast cancer in men: risk factors with hormonal implications. Am. J. Epidemiol. 135, 734\u2013748 (1992).","journal-title":"Am. J. Epidemiol."},{"key":"BFng1092132_CR4","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1093\/jnci\/83.12.849","volume":"83","author":"KA Rosenblatt","year":"1991","unstructured":"Rosenblatt, K.A. et al. Breast cancer in men: aspects of familial aggregation. J. natl. Cancer Inst. 83, 849\u2013853 (1991).","journal-title":"J. natl. Cancer Inst."},{"key":"BFng1092132_CR5","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1002\/ijc.2910450415","volume":"45","author":"M-H Lenfant-Pejovic","year":"1990","unstructured":"Lenfant-Pejovic, M.-H., Mlika-Cabanne, N., Bouchardy, C. & Auquier, A. Risk factors for male breast cancer: a Franco-Swiss case control study. Int. J. Cancer 45, 661\u2013665 (1990).","journal-title":"Int. J. Cancer"},{"key":"BFng1092132_CR6","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1126\/science.1978757","volume":"250","author":"D Malkin","year":"1990","unstructured":"Malkin, D. et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250, 1233\u20131238 (1990).","journal-title":"Science"},{"key":"BFng1092132_CR7","doi-asserted-by":"publisher","first-page":"1684","DOI":"10.1126\/science.2270482","volume":"250","author":"JM Hall","year":"1990","unstructured":"Hall, J.M. et al. Linkage of early onset familial breast cancer to chromosome 17q21. Science 250, 1684\u20131689 (1990).","journal-title":"Science"},{"key":"BFng1092132_CR8","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1056\/NEJM199202273260906","volume":"326","author":"JE Griffin","year":"1992","unstructured":"Griffin, J.E. Androgen resistance-the clinical and molecular spectrum. N. Eng. J. Med. 326, 611\u2013618 (1992).","journal-title":"N. Eng. J. Med."},{"key":"BFng1092132_CR9","doi-asserted-by":"publisher","first-page":"1413","DOI":"10.1172\/JCI115147","volume":"87","author":"MJ McPhaul","year":"1991","unstructured":"McPhaul, M.J. et al. Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high dose androgen therapy. J. clin. Invest. 87, 1413\u20131421 (1991).","journal-title":"J. clin. Invest."},{"key":"BFng1092132_CR10","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/352077a0","volume":"352","author":"AR LaSpada","year":"1991","unstructured":"LaSpada, A.R., Wilson, E., Lubahn, D.B., Harding, A.E. & Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77\u201379 (1991).","journal-title":"Nature"},{"key":"BFng1092132_CR11","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1093\/oxfordjournals.epirev.a036060","volume":"12","author":"EL Harris","year":"1990","unstructured":"Harris, E.L. Genetic epidemiology of hypospadias. Epidemiol. Rev. 12, 29\u201340 (1990).","journal-title":"Epidemiol. Rev."},{"key":"BFng1092132_CR12","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1002\/ajmg.1320210108","volume":"21","author":"M Frydman","year":"1985","unstructured":"Frydman, M., Grieber, C. & Cohen, H.A. Uncomplicated familial hypospadias: Evidence for autosomal recessive inheritance. Am. J. med. Genet. 21, 51\u201355 (1985).","journal-title":"Am. J. med. Genet."},{"key":"BFng1092132_CR13","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1126\/science.3283939","volume":"240","author":"RM Evans","year":"1988","unstructured":"Evans, R.M. The steroid and thyroid hormone receptor family. Science 240, 889\u2013895 (1988).","journal-title":"Science"},{"key":"BFng1092132_CR14","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/0165-4608(87)90180-4","volume":"25","author":"MS Verp","year":"1987","unstructured":"Verp, M.S. & Simpson, J.L. Abnormal sexual differentiation and neoplasia. Cancer Genet. Cytogenet. 25, 191\u2013218 (1987).","journal-title":"Cancer Genet. Cytogenet."},{"key":"BFng1092132_CR15","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1038\/353431a0","volume":"353","author":"J Pelletier","year":"1991","unstructured":"Pelletier, J. et al. WT1 mutations contribute to to abnormal genital system development and hereditary Wilms tumour. Nature 353, 431\u2013434 (1991).","journal-title":"Nature"},{"key":"BFng1092132_CR16","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1016\/0092-8674(91)90194-4","volume":"67","author":"J Pelletier","year":"1991","unstructured":"Pelletier, J. et al. Germline mutations in the Wilms tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67, 437\u2013447 (1991).","journal-title":"Cell"},{"key":"BFng1092132_CR17","doi-asserted-by":"publisher","first-page":"3037","DOI":"10.1002\/j.1460-2075.1988.tb03168.x","volume":"7","author":"S Green","year":"1988","unstructured":"Green, S., Kumar, V., Theulaz, I., Wahli, W. & Chambon, P. The N-terminal DNA-binding \u201czinc finger\u201d of the oestrogen and glucocorticoid receptors determines target gene specificity. EMBO J. 7, 3037\u20133044 (1988).","journal-title":"EMBO J."},{"key":"BFng1092132_CR18","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1038\/338271a0","volume":"338","author":"S Mader","year":"1989","unstructured":"Mader, S., Kumar, V., de Verneuil, H. & Chambon, P. Three amino acids of the oestrogen receptor are essential to its ability to distinguish an oestrogen from a glucocorticoid-response element. Nature 338, 271\u2013274 (1989).","journal-title":"Nature"},{"key":"BFng1092132_CR19","doi-asserted-by":"publisher","first-page":"1590","DOI":"10.1101\/gad.3.10.1590","volume":"3","author":"M Schena","year":"1989","unstructured":"Schena, M., Freedman, L.P. & Yamamoto, K.R. Mutations in the glucocorticoid receptor zinc finger region that distinguish interdigitated DNA binding and transcriptional enhancement activties. Genes Dev. 3, 1590\u20131601 (1989).","journal-title":"Genes Dev."},{"key":"BFng1092132_CR20","doi-asserted-by":"publisher","first-page":"2342","DOI":"10.1002\/1097-0142(19900515)65:10<2342::AID-CNCR2820651029>3.0.CO;2-Y","volume":"65","author":"JG Demeter","year":"1990","unstructured":"Demeter, J.G., Waterman, N.G. & Verdi, G.D. Familial male breast carcinoma. Cancer 65, 2342\u20132343 (1990).","journal-title":"Cancer"},{"key":"BFng1092132_CR21","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/S0140-6736(76)92907-X","volume":"1","author":"RB Everson","year":"1976","unstructured":"Everson, R.B., Fraumeni, J.F. & Wilson, R.E. Familial male breast cancer. Lancet 1, 9\u201312 (1976).","journal-title":"Lancet"},{"key":"BFng1092132_CR22","doi-asserted-by":"publisher","first-page":"2736","DOI":"10.1002\/1097-0142(19861215)58:12<2736::AID-CNCR2820581230>3.0.CO;2-A","volume":"58","author":"FK Kozak","year":"1986","unstructured":"Kozak, F.K., Hall, J.G. & Baird, P.A. Familial breast cancer in males. Cancer 58, 2736\u20132739 (1986).","journal-title":"Cancer"},{"key":"BFng1092132_CR23","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1002\/1097-0142(197508)36:2<458::AID-CNCR2820360222>3.0.CO;2-V","volume":"36","author":"D Marger","year":"1975","unstructured":"Marger, D., Urdaneta, N. & Fischer, J.J. Breast cancer in brothers. Cancer 36, 458\u2013461 (1975).","journal-title":"Cancer"},{"key":"BFng1092132_CR24","first-page":"361","volume":"i","author":"C Teasdale","year":"1976","unstructured":"Teasdale, C., Forbes, J.F. & Baum, M. Familial male breast cancer. Lancet i, 361\u2013362 (1976).","journal-title":"Lancet"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1092-132","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1092-132.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1092-132.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T21:05:18Z","timestamp":1684443918000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1092-132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,10]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,10]]}},"alternative-id":["BFng1092132"],"URL":"https:\/\/doi.org\/10.1038\/ng1092-132","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,10]]}}}