{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:37:48Z","timestamp":1790804268008,"version":"4.1.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T00:00:00Z","timestamp":1489017600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T00:00:00Z","timestamp":1489017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1038\/jhg.2017.20","type":"journal-article","created":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T08:18:10Z","timestamp":1489047490000},"page":"637-640","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Mosaic chromosome Y loss and testicular germ cell tumor risk"],"prefix":"10.1038","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6538-9705","authenticated-orcid":false,"given":"Mitchell J","family":"Machiela","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7334-4718","authenticated-orcid":false,"given":"Casey L","family":"Dagnall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Pathak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer T","family":"Loud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J","family":"Chanock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark H","family":"Greene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A","family":"McGlynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas R","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,3,9]]},"reference":[{"key":"BFjhg201720_CR1","doi-asserted-by":"publisher","first-page":"7","DOI":"10.3322\/caac.21332","volume":"66","author":"RL Siegel","year":"2016","unstructured":"Siegel, R. L., Miller, K. D. & Jemal, A. Cancer statistics, 2016. CA Cancer J. Clin. 66, 7\u201330 (2016).","journal-title":"CA Cancer J. Clin."},{"key":"BFjhg201720_CR2","doi-asserted-by":"publisher","first-page":"4181","DOI":"10.1002\/cncr.29643","volume":"121","author":"AA Ghazarian","year":"2015","unstructured":"Ghazarian, A. A., Trabert, B., Graubard, B. I., Schwartz, S. M., Altekruse, S. F. & McGlynn, K. A. Incidence of testicular germ cell tumors among US men by census region. Cancer 121, 4181\u20134189 (2015).","journal-title":"Cancer"},{"key":"BFjhg201720_CR3","doi-asserted-by":"publisher","first-page":"1762","DOI":"10.1016\/S0140-6736(15)00991-5","volume":"387","author":"E Rajpert-De Meyts","year":"2016","unstructured":"Rajpert-De Meyts, E., McGlynn, K. A., Okamoto, K., Jewett, M. A. & Bokemeyer, C. Testicular germ cell tumours. Lancet 387, 1762\u20131774 (2016).","journal-title":"Lancet"},{"key":"BFjhg201720_CR4","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1038\/ng.2634","volume":"45","author":"CC Chung","year":"2013","unstructured":"Chung, C. C., Kanetsky, P. A., Wang, Z., Hildebrandt, M. A., Koster, R., Skotheim, R. I. et al. Meta-analysis identifies four new loci associated with testicular germ cell tumor. Nat. Genet. 45, 680\u2013685 (2013).","journal-title":"Nat. Genet."},{"key":"BFjhg201720_CR5","doi-asserted-by":"publisher","first-page":"8690","DOI":"10.1038\/ncomms9690","volume":"6","author":"K Litchfield","year":"2015","unstructured":"Litchfield, K., Holroyd, A., Lloyd, A., Broderick, P., Nsengimana, J., Eeles, R. et al. Identification of four new susceptibility loci for testicular germ cell tumour. Nat. Commun. 6, 8690 (2015).","journal-title":"Nat. Commun."},{"key":"BFjhg201720_CR6","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1086\/498455","volume":"77","author":"KL Nathanson","year":"2005","unstructured":"Nathanson, K. L., Kanetsky, P. A., Hawes, R., Vaughn, D. J., Letrero, R., Tucker, K. et al. The Y deletion gr\/gr and susceptibility to testicular germ cell tumor. Am. J. Hum. Genet. 77, 1034\u20131043 (2005).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201720_CR7","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1038\/nrg906","volume":"3","author":"H Youssoufian","year":"2002","unstructured":"Youssoufian, H. & Pyeritz, R. E. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 3, 748\u2013758 (2002).","journal-title":"Nat. Rev. Genet."},{"key":"BFjhg201720_CR8","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1053\/j.seminhematol.2013.09.001","volume":"50","author":"MJ Machiela","year":"2013","unstructured":"Machiela, M. J. & Chanock, S. J. Detectable clonal mosaicism in the human genome. Semin. Hematol. 50, 348\u2013359 (2013).","journal-title":"Semin. Hematol."},{"key":"BFjhg201720_CR9","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1038\/ng.2270","volume":"44","author":"KB Jacobs","year":"2012","unstructured":"Jacobs, K. B., Yeager, M., Zhou, W., Wacholder, S., Wang, Z., Rodriguez-Santiago, B. et al. Detectable clonal mosaicism and its relationship to aging and cancer. Nat. Genet. 44, 651\u2013658 (2012).","journal-title":"Nat. Genet."},{"key":"BFjhg201720_CR10","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1038\/ng.2271","volume":"44","author":"CC Laurie","year":"2012","unstructured":"Laurie, C. C., Laurie, C. A., Rice, K., Doheny, K. F., Zelnick, L. R., McHugh, C. P. et al. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat. Genet. 44, 642\u2013650 (2012).","journal-title":"Nat. Genet."},{"key":"BFjhg201720_CR11","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1016\/j.ajhg.2015.01.011","volume":"96","author":"MJ Machiela","year":"2015","unstructured":"Machiela, M. J., Zhou, W., Sampson, J. N., Dean, M. C., Jacobs, K. B., Black, A. et al. Characterization of large structural genetic mosaicism in human autosomes. Am. J. Hum. Genet. 96, 487\u2013497 (2015).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201720_CR12","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1038\/ng.2966","volume":"46","author":"LA Forsberg","year":"2014","unstructured":"Forsberg, L. A., Rasi, C., Malmqvist, N., Davies, H., Pasupulati, S., Pakalapati, G. et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat. Genet. 46, 624\u2013628 (2014).","journal-title":"Nat. Genet."},{"key":"BFjhg201720_CR13","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1126\/science.1262092","volume":"347","author":"JP Dumanski","year":"2015","unstructured":"Dumanski, J. P., Rasi, C., Lonn, M., Davies, H., Ingelsson, M., Giedraitis, V. et al. Mutagenesis. Smoking is associated with mosaic loss of chromosome Y. Science 347, 81\u201383 (2015).","journal-title":"Science"},{"key":"BFjhg201720_CR14","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1038\/ng.3545","volume":"48","author":"W Zhou","year":"2016","unstructured":"Zhou, W., Machiela, M. J., Freedman, N. D., Rothman, N., Malats, N., Dagnall, C. et al. Mosaic loss of chromosome Y is associated with common variation near TCL1A. Nat. Genet. 48, 563\u2013568 (2016).","journal-title":"Nat. Genet."},{"key":"BFjhg201720_CR15","doi-asserted-by":"publisher","first-page":"1748","DOI":"10.1038\/sj.bjc.6604704","volume":"99","author":"LA Korde","year":"2008","unstructured":"Korde, L. A., Premkumar, A., Mueller, C., Rosenberg, P., Soho, C., Bratslavsky, G. et al. Increased prevalence of testicular microlithiasis in men with familial testicular cancer and their relatives. Br J Cancer 99, 1748\u20131753 (2008).","journal-title":"Br J Cancer"},{"key":"BFjhg201720_CR16","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/andr.294","volume":"3","author":"MH Greene","year":"2015","unstructured":"Greene, M. H., Mai, P. L., Loud, J. T., Pathak, A., Peters, J. A., Mirabello, L. et al. Familial testicular germ cell tumors (FTGCT)\u2014overview of a multidisciplinary etiologic study. Andrology 3, 47\u201358 (2015).","journal-title":"Andrology"},{"key":"BFjhg201720_CR17","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1093\/aje\/kwk019","volume":"165","author":"KA McGlynn","year":"2007","unstructured":"McGlynn, K. A., Sakoda, L. C., Rubertone, M. V., Sesterhenn, I. A., Lyu, C., Graubard, B. I. et al. Body size, dairy consumption, puberty, and risk of testicular germ cell tumors. Am. J. Epidemiol. 165, 355\u2013363 (2007).","journal-title":"Am. J. Epidemiol."},{"key":"BFjhg201720_CR18","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1093\/ije\/dyq260","volume":"40","author":"MB Cook","year":"2011","unstructured":"Cook, M. B., Chia, V. M., Berndt, S. I., Graubard, B. I., Chanock, S. J., Rubertone, M. V. et al. Genetic contributions to the association between adult height and testicular germ cell tumors. Int. J. Epidemiol. 40, 731\u2013739 (2011).","journal-title":"Int. J. Epidemiol."},{"key":"BFjhg201720_CR19","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1093\/nar\/18.1.97","volume":"18","author":"M Baer","year":"1990","unstructured":"Baer, M., Nilsen, T. W., Costigan, C. & Altman, S. Structure and transcription of a human gene for H1 RNA, the RNA component of human RNase P. Nucleic Acids Res. 18, 97\u2013103 (1990).","journal-title":"Nucleic Acids Res."},{"key":"BFjhg201720_CR20","doi-asserted-by":"crossref","unstructured":"Lindor, N. M. M. M., Lindor, C. J. & Greene, M. H. Concise handbook of familial cancer susceptibility syndromes\u2014second edition. J. Natl. Cancer Inst. Monogr. 1\u201393 (2008).","DOI":"10.1093\/jncimonographs\/lgn001"},{"key":"BFjhg201720_CR21","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1016\/j.urolonc.2008.10.004","volume":"28","author":"PL Mai","year":"2010","unstructured":"Mai, P. L., Friedlander, M., Tucker, K., Phillips, K. A., Hogg, D., Jewett, M. A. et al. The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred. Urol. Oncol. 28, 492\u2013499 (2010).","journal-title":"Urol. Oncol."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/jhg201720","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/jhg201720.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/jhg.2017.20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/www.nature.com\/articles\/jhg201720.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T03:02:18Z","timestamp":1641006138000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201720"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,9]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["BFjhg201720"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2017.20","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,9]]},"assertion":[{"value":"12 September 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 January 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 January 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2017","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}