ZIA CP010144-07070 (ZIA) | |||
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Title | Clinical and genetic studies of familial testicular cancer | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Loud, Jennifer | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $419,014 | Project Dates | 06/01/2000 - N/A |
Fiscal Year | 2012 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Basic Behavioral and Social Science (25.0%) Behavioral and Social Science (25.0%) Biochemical Epidemiology (45.0%) Cancer (100.0%) |
Testes (100.0%) | ||
Research Type | |||
Cancer Related Biology Endogenous Factors in the Origin and Cause of Cancer |
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Abstract | |||
This is a multidisciplinary etiologic study targeting families at increased risk of testicular cancer (TC). The goals of this study include: 1) define the clinical phenotype of familial TC; 2) map and clone hereditary TC susceptibility genes; 3) determine if cancers other than TC are part of the familial TC syndrome; 4) determine if the pathology of familial TC differs from that of non-familial TC; 5) create a biospecimen repository for subsequent translational research projects. Recent findings to date include (a) excluding the presence of a dysmorphic phenotype in TC families; (b) excluding the presence of developmental anomalies of the GU system as a component of the familial TC phenotype; (c) demonstrating that promoter methylation of GWAS-identified TGCT susceptibility genes may play a role in FTGCT susceptibility; (d) confirming recent GWAS findings and showing that variants in or near KITLG, BAK1, DMRT1 and TERT-CLPTM1L predispose to familial TC; and (e) publishing a series of unique psychosocial and behavioral observations related to familial TC. Our data have been contributed to a meta-analysis of TGCT GWAS data, which has identified several novel risk loci. We are leveraging state-of-the-science genomic tools (whole exome and whole genome sequencing, CGH array, fine-mapping, CNV evaluation, somatic genetics, studies of twins discordant for TGCT, genotyping GWAS risk SNPs in persons with UDT, infertility) to purse a more detailed understanding of TGCT genetics. We are continuing to investigate the relationship between testicular microlithiasis and FTGCT risk. |