Rosen, A., Jayram, G., Drazer, M. & Eggener, S.E.
Global trends in testicular cancer incidence and mortality. Eur. Urol.
60, 374–379 (2011).
et al. SEER Cancer Statistics Review, 1975–2009 (Vintage 2009 Populations) based on November 2011 SEER data submission, posted to the SEER web site, 2012 〈http://seer.cancer.gov/csr/1975_2009_pops09/〉 (2012).
et al. Gonadal and extragonadal germ cell tumours in the United States, 1973–2007. Int. J. Androl.
35, 616–625 (2012).
McGlynn, K.A. & Trabert, B.
Adolescent and adult risk factors for testicular cancer. Nat. Rev. Urol.
9, 339–349 (2012).
et al. Association of marijuana use and the incidence of testicular germ cell tumors. Cancer
115, 1215–1223 (2009).
Trabert, B., Sigurdson, A.J., Sweeney, A.M., Strom, S.S. & McGlynn, K.A.
Marijuana use and testicular germ cell tumors. Cancer
117, 848–853 (2011).
et al. Population-based case-control study of recreational drug use and testis cancer risk confirms an association between marijuana use and nonseminoma risk. Cancer
118, 5374–5383 (2012).
et al. Testicular, other genital, and breast cancers in first-degree relatives of testicular cancer patients and controls. Cancer Epidemiol. Biomarkers Prev.
13, 1316–1324 (2004).
et al. Risk of cancer in first- and second-degree relatives of testicular germ cell tumor cases and controls. Int. J. Cancer
124, 952–957 (2009).
et al. Risk of cancer in relatives of testicular cancer patients. Br. J. Cancer
73, 970–973 (1996).
et al. Familial testicular cancer in a single-centre population. Eur. J. Cancer
35, 1368–1373 (1999).
Czene, K., Lichtenstein, P. & Hemminki, K.
Environmental and heritable causes of cancer among 9.6 million individuals in the Swedish Family-Cancer Database. Int. J. Cancer
99, 260–266 (2002).
Neale, R.E., Carriere, P., Murphy, M.F. & Baade, P.D.
Testicular cancer in twins: a meta-analysis. Br. J. Cancer
98, 171–173 (2008).
Swerdlow, A.J., De Stavola, B.L., Swanwick, M.A. & Maconochie, N.E.
Risks of breast and testicular cancers in young adult twins in England and Wales: evidence on prenatal and genetic aetiology. Lancet
350, 1723–1728 (1997).
Braun, M.M., Ahlbom, A., Floderus, B., Brinton, L.A. & Hoover, R.N.
Effect of twinship on incidence of cancer of the testis, breast, and other sites (Sweden). Cancer Causes Control
6, 519–524 (1995).
et al. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat. Genet.
41, 811–815 (2009).
et al. A genome-wide association study of testicular germ cell tumor. Nat. Genet.
41, 807–810 (2009).
et al. Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. Nat. Genet.
42, 604–607 (2010).
et al. A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. Hum. Mol. Genet.
20, 3109–3117 (2011).
et al. Variants in KITLG predispose to testicular germ cell cancer independently from spermatogenic function. Endocr. Relat. Cancer
19, 101–108 (2012).
et al. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation. J. Med. Genet.
49, 58–65 (2012).
Rajpert-de Meyts, E. & Hoei-Hansen, C.E.
From gonocytes to testicular cancer: the role of impaired gonadal development. Ann. NY Acad. Sci.
1120, 168–180 (2007).
Chung, C.C. & Chanock, S.J.
Current status of genome-wide association studies in cancer. Hum. Genet.
130, 59–78 (2011).
et al. Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat. Genet.
42, 570–575 (2010).
et al. Hematopoietic prostaglandin D synthase (H-Pgds) is expressed in the early embryonic gonad and participates to the initial nuclear translocation of the SOX9 protein. Dev. Dyn.
240, 2335–2343 (2011).
et al. Hematopoietic prostaglandin D synthase suppresses intestinal adenomas in ApcMin/+ mice. Cancer Res.
67, 881–889 (2007).
et al. Maintenance of silent chromatin through replication requires SWI/SNF-like chromatin remodeler SMARCAD1. Mol. Cell
42, 285–296 (2011).
et al. The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection. Nature
489, 581–584 (2012).
Schoor, M., Schuster-Gossler, K., Roopenian, D. & Gossler, A.
Skeletal dysplasias, growth retardation, reduced postnatal survival, and impaired fertility in mice lacking the SNF2/SWI2 family member ETL1. Mech. Dev.
85, 73–83 (1999).
et al. A method and server for predicting damaging missense mutations. Nat. Methods
7, 248–249 (2010).
Gidekel, S., Pizov, G., Bergman, Y. & Pikarsky, E.
Oct-3/4 is a dose-dependent oncogenic fate determinant. Cancer Cell
4, 361–370 (2003).
Tsai, C.C., Su, P.F., Huang, Y.F., Yew, T.L. & Hung, S.C.
Oct4 and Nanog directly regulate Dnmt1 to maintain self-renewal and undifferentiated state in mesenchymal stem cells. Mol. Cell
47, 169–182 (2012).
et al. OCT4: biological functions and clinical applications as a marker of germ cell neoplasia. J. Pathol.
211, 1–9 (2007).
The stem cell identity of testicular cancer. Stem Cell Rev.
3, 49–59 (2007).
et al. Cytoplasmic p21 expression levels determine cisplatin resistance in human testicular cancer. J. Clin. Invest.
120, 3594–3605 (2010).
et al. Differentiation of human embryonal carcinomas in vitro and in vivo reveals expression profiles relevant to normal development. Cancer Res.
65, 5588–5598 (2005).
et al. Integrating common and rare genetic variation in diverse human populations. Nature
467, 52–58 (2010).
Kim, S., Sun, H., Tomchick, D.R., Yu, H. & Luo, X.
Structure of human Mad1 C-terminal domain reveals its involvement in kinetochore targeting. Proc. Natl. Acad. Sci. USA
109, 6549–6554 (2012).
et al. Functional evaluation of missense variations in the human MAD1L1 and MAD2L1 genes and their impact on susceptibility to lung cancer. J. Med. Genet.
47, 616–622 (2010).
Iwanaga, Y., Kasai, T., Kibler, K. & Jeang, K.T.
Characterization of regions in hsMAD1 needed for binding hsMAD2. A polymorphic change in an hsMAD1 leucine zipper affects MAD1-MAD2 interaction and spindle checkpoint function. J. Biol. Chem.
277, 31005–31013 (2002).
et al. RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage. Proc. Natl. Acad. Sci. USA
107, 4579–4584 (2010).
et al. RING finger and WD repeat domain 3 (RFWD3) associates with replication protein A (RPA) and facilitates RPA-mediated DNA damage response. J. Biol. Chem.
286, 22314–22322 (2011).
et al. Mixed lineage kinase domain–like is a key receptor interacting protein 3 downstream component of TNF-induced necrosis. Proc. Natl. Acad. Sci. USA
109, 5322–5327 (2012).
et al. Mixed lineage kinase domain–like protein mediates necrosis signaling downstream of RIP3 kinase. Cell
148, 213–227 (2012).
et al. Genetics and beyond—the transcriptome of human monocytes and disease susceptibility. PLoS ONE
5, e10693 (2010).
et al. Cortical organization by the septin cytoskeleton is essential for structural and mechanical integrity of mammalian spermatozoa. Dev. Cell
8, 343–352 (2005).
et al. The Sept4 septin locus is required for sperm terminal differentiation in mice. Dev. Cell
8, 353–364 (2005).
et al. TEX14 is essential for intercellular bridges and fertility in male mice. Proc. Natl. Acad. Sci. USA
103, 4982–4987 (2006).
et al. RAD51C deficiency in mice results in early prophase I arrest in males and sister chromatid separation at metaphase II in females. J. Cell Biol.
176, 581–592 (2007).
et al. Spermiogenesis and exchange of basic nuclear proteins are impaired in male germ cells lacking Camk4. Nat. Genet.
25, 448–452 (2000).
Karlberg, S., Tiitinen, A. & Lipsanen-Nyman, M.
Failure of sexual maturation in Mulibrey nanism. N. Engl. J. Med.
351, 2559–2560 (2004).
et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat. Genet.
42, 410–414 (2010).
et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat. Genet.
44, 475–476 (2012).
Mondal, G., Ohashi, A., Yang, L., Rowley, M. & Couch, F.J.
Tex14, a Plk1-regulated protein, is required for kinetochore-microtubule attachment and regulation of the spindle assembly checkpoint. Mol. Cell
45, 680–695 (2012).
Ishida, A., Sueyoshi, N., Shigeri, Y. & Kameshita, I.
Negative regulation of multifunctional Ca2+/calmodulin-dependent protein kinases: physiological and pharmacological significance of protein phosphatases. Br. J. Pharmacol.
154, 729–740 (2008).
et al. Gene encoding a new RING–B-box–Coiled-coil protein is mutated in mulibrey nanism. Nat. Genet.
25, 298–301 (2000).
et al. Testicular failure and male infertility in the monogenic Mulibrey nanism disorder. J. Clin. Endocrinol. Metab.
96, 3399–3407 (2011).
Atkin, N.B. & Baker, M.C.
Specific chromosome change i(12p) in testicular tumors?
2, 1349 (1982).
et al. Cytogenetic analysis of 124 prospectively ascertained male germ cell tumors. Cancer Res.
52, 2285–2291 (1992).
et al. Novel genomic aberrations in testicular germ cell tumors by array-CGH, and associated gene expression changes. Cell Oncol.
28, 315–326 (2006).
et al. Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23. Hum. Mol. Genet. published online; doi:10.1093/hmg/ddt109 (5 March 2013).
SequenceLDhot: detecting recombination hotspots. Bioinformatics
22, 3061–3066 (2006).
Fearnhead, P. & Donnelly, P.
Approximate likelihood methods for estimating local recombination rates. J. R. Stat. Soc. B
64, 657–680 (2002).
et al. Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat. Genet.
36, 700–706 (2004).
Li, N. & Stephens, M.
Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics
165, 2213–2233 (2003).
Luna, A. & Nicodemus, K.K.
snp.plotter: an R-based SNP/haplotype association and linkage disequilibrium plotting package. Bioinformatics
23, 774–776 (2007).
et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat. Genet.
39, 352–358 (2007).
Hemminki, K. & Li, X.
Familial risk in testicular cancer as a clue to a heritable and environmental aetiology. Br. J. Cancer
90, 1765–1770 (2004).
Ward, L.D. & Kellis, M.
HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res.
40, D930–D934 (2012).
et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res.
22, 1790–1797 (2012).