Familial testicular germ cell tumours
This article defines familial testicular germ cell tumours (FTGCTs) as testicular germ cell tumours (TGCTs) diagnosed in at least two blood relatives, a situation which occurs in 1–2% of all cases of TGCT. Brothers and fathers of TGCT patients have an 8–10- and 4–6-fold increased risk of TGCT, respe...
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| Veröffentlicht in: | Baillière's best practice & research. Clinical endocrinology & metabolism 2010-06, Vol.24 (3), p.503-513 |
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| creator | Kratz, Christian P., MD Mai, Phuong L., MD Greene, Mark H., MD |
| description | This article defines familial testicular germ cell tumours (FTGCTs) as testicular germ cell tumours (TGCTs) diagnosed in at least two blood relatives, a situation which occurs in 1–2% of all cases of TGCT. Brothers and fathers of TGCT patients have an 8–10- and 4–6-fold increased risk of TGCT, respectively, and an even higher elevated risk of TGCT in twin brothers of men with TGCT has been observed, suggesting that genetic elements play an important role in these tumours. Nevertheless, previous linkage studies with multiple FTGCT families did not uncover any high-penetrance genes and it has been concluded that the combined effects of multiple common alleles, each conferring a modest risk, might underlie FTGCT. In agreement with this assumption, recent candidate gene-association analyses have identified the chromosome Y gr/gr deletion and mutations in the PDE11A gene as genetic modifiers of FTGCT risk. Moreover, two genome-wide association studies of predominantly sporadic but also familial cases of TGCT have identified three additional susceptibility loci, KITLG , SPRY4 and BAK1 . Notably, all five loci are involved in the biology of primordial germ cells, representing the cell of origin of TGCT, suggesting that the tumours arise as a result of disturbed testicular development. |
| doi_str_mv | 10.1016/j.beem.2010.01.005 |
| format | Article |
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Brothers and fathers of TGCT patients have an 8–10- and 4–6-fold increased risk of TGCT, respectively, and an even higher elevated risk of TGCT in twin brothers of men with TGCT has been observed, suggesting that genetic elements play an important role in these tumours. Nevertheless, previous linkage studies with multiple FTGCT families did not uncover any high-penetrance genes and it has been concluded that the combined effects of multiple common alleles, each conferring a modest risk, might underlie FTGCT. In agreement with this assumption, recent candidate gene-association analyses have identified the chromosome Y gr/gr deletion and mutations in the PDE11A gene as genetic modifiers of FTGCT risk. Moreover, two genome-wide association studies of predominantly sporadic but also familial cases of TGCT have identified three additional susceptibility loci, KITLG , SPRY4 and BAK1 . Notably, all five loci are involved in the biology of primordial germ cells, representing the cell of origin of TGCT, suggesting that the tumours arise as a result of disturbed testicular development.</description><identifier>ISSN: 1521-690X</identifier><identifier>EISSN: 1878-1594</identifier><identifier>EISSN: 1532-1908</identifier><identifier>DOI: 10.1016/j.beem.2010.01.005</identifier><identifier>PMID: 20833340</identifier><language>eng</language><publisher>Netherlands: Elsevier Ltd</publisher><subject>Animals ; bcl-2 Homologous Antagonist-Killer Protein - genetics ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Y ; Endocrinology & Metabolism ; familial testicular cancer germ cell tumours ; genetic susceptibility ; Genetic Variation - genetics ; Genome-Wide Association Study ; Humans ; Intracellular Signaling Peptides and Proteins - genetics ; KITLG-KIT signalling ; Male ; Neoplasms, Germ Cell and Embryonal - genetics ; Neoplasms, Germ Cell and Embryonal - pathology ; Nerve Tissue Proteins - genetics ; Phosphoric Diester Hydrolases - genetics ; Testicular Neoplasms - genetics ; Testicular Neoplasms - pathology</subject><ispartof>Baillière's best practice & research. Clinical endocrinology & metabolism, 2010-06, Vol.24 (3), p.503-513</ispartof><rights>2010</rights><rights>Published by Elsevier Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c509t-395c00e24a472f2877bd08b601c31ceecb5b0b908fb011f11ce2ac17ca8276ad3</citedby><cites>FETCH-LOGICAL-c509t-395c00e24a472f2877bd08b601c31ceecb5b0b908fb011f11ce2ac17ca8276ad3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1521690X10000229$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20833340$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kratz, Christian P., MD</creatorcontrib><creatorcontrib>Mai, Phuong L., MD</creatorcontrib><creatorcontrib>Greene, Mark H., MD</creatorcontrib><title>Familial testicular germ cell tumours</title><title>Baillière's best practice & research. Clinical endocrinology & metabolism</title><addtitle>Best Pract Res Clin Endocrinol Metab</addtitle><description>This article defines familial testicular germ cell tumours (FTGCTs) as testicular germ cell tumours (TGCTs) diagnosed in at least two blood relatives, a situation which occurs in 1–2% of all cases of TGCT. Brothers and fathers of TGCT patients have an 8–10- and 4–6-fold increased risk of TGCT, respectively, and an even higher elevated risk of TGCT in twin brothers of men with TGCT has been observed, suggesting that genetic elements play an important role in these tumours. Nevertheless, previous linkage studies with multiple FTGCT families did not uncover any high-penetrance genes and it has been concluded that the combined effects of multiple common alleles, each conferring a modest risk, might underlie FTGCT. In agreement with this assumption, recent candidate gene-association analyses have identified the chromosome Y gr/gr deletion and mutations in the PDE11A gene as genetic modifiers of FTGCT risk. Moreover, two genome-wide association studies of predominantly sporadic but also familial cases of TGCT have identified three additional susceptibility loci, KITLG , SPRY4 and BAK1 . Notably, all five loci are involved in the biology of primordial germ cells, representing the cell of origin of TGCT, suggesting that the tumours arise as a result of disturbed testicular development.</description><subject>Animals</subject><subject>bcl-2 Homologous Antagonist-Killer Protein - genetics</subject><subject>Chromosome Deletion</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Y</subject><subject>Endocrinology & Metabolism</subject><subject>familial testicular cancer germ cell tumours</subject><subject>genetic susceptibility</subject><subject>Genetic Variation - genetics</subject><subject>Genome-Wide Association Study</subject><subject>Humans</subject><subject>Intracellular Signaling Peptides and Proteins - genetics</subject><subject>KITLG-KIT signalling</subject><subject>Male</subject><subject>Neoplasms, Germ Cell and Embryonal - genetics</subject><subject>Neoplasms, Germ Cell and Embryonal - pathology</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Phosphoric Diester Hydrolases - genetics</subject><subject>Testicular Neoplasms - genetics</subject><subject>Testicular Neoplasms - pathology</subject><issn>1521-690X</issn><issn>1878-1594</issn><issn>1532-1908</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUtLAzEUhYMoVqt_wIV043LqvUnnBSJI8QUFFyq4u2QydzR1HiWZCv57M1RFXbhKOLnnhPsdIY4QpgiYnC6nBXMzlRAEwClAvCX2MEuzCON8th3uscQoyeFpJPa9XwIAKsBdMZKQKaVmsCdOrnRja6vrSc--t2Zdazd5ZtdMDNdBXDfd2vkDsVPp2vPh5zkWj1eXD_ObaHF3fTu_WEQmhryPVB4bAJYzPUtlJbM0LUrIigTQKDTMpogLKHLIqgIQKwya1AZTozOZJrpUY3G-yV2ti4ZLw23vdE0rZxvt3qnTln6_tPaFnrs3krnKU5WEALkJMK7z3nH17UWgARotaYBGAzQCpAAtmI5__vpt-aIUBs42Axx2f7PsyBvLreHSOjY9lZ39P__8j93UtrVG16_8zn4ZCLeBKiF5SUD3Q21DaxgKAxlW-wA2i5Mf</recordid><startdate>20100601</startdate><enddate>20100601</enddate><creator>Kratz, Christian P., MD</creator><creator>Mai, Phuong L., MD</creator><creator>Greene, Mark H., MD</creator><general>Elsevier Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope></search><sort><creationdate>20100601</creationdate><title>Familial testicular germ cell tumours</title><author>Kratz, Christian P., MD ; Mai, Phuong L., MD ; Greene, Mark H., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c509t-395c00e24a472f2877bd08b601c31ceecb5b0b908fb011f11ce2ac17ca8276ad3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Animals</topic><topic>bcl-2 Homologous Antagonist-Killer Protein - genetics</topic><topic>Chromosome Deletion</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Y</topic><topic>Endocrinology & Metabolism</topic><topic>familial testicular cancer germ cell tumours</topic><topic>genetic susceptibility</topic><topic>Genetic Variation - genetics</topic><topic>Genome-Wide Association Study</topic><topic>Humans</topic><topic>Intracellular Signaling Peptides and Proteins - genetics</topic><topic>KITLG-KIT signalling</topic><topic>Male</topic><topic>Neoplasms, Germ Cell and Embryonal - genetics</topic><topic>Neoplasms, Germ Cell and Embryonal - pathology</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Phosphoric Diester Hydrolases - genetics</topic><topic>Testicular Neoplasms - genetics</topic><topic>Testicular Neoplasms - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kratz, Christian P., MD</creatorcontrib><creatorcontrib>Mai, Phuong L., MD</creatorcontrib><creatorcontrib>Greene, Mark H., MD</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Baillière's best practice & research. Clinical endocrinology & metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kratz, Christian P., MD</au><au>Mai, Phuong L., MD</au><au>Greene, Mark H., MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial testicular germ cell tumours</atitle><jtitle>Baillière's best practice & research. Clinical endocrinology & metabolism</jtitle><addtitle>Best Pract Res Clin Endocrinol Metab</addtitle><date>2010-06-01</date><risdate>2010</risdate><volume>24</volume><issue>3</issue><spage>503</spage><epage>513</epage><pages>503-513</pages><issn>1521-690X</issn><eissn>1878-1594</eissn><eissn>1532-1908</eissn><abstract>This article defines familial testicular germ cell tumours (FTGCTs) as testicular germ cell tumours (TGCTs) diagnosed in at least two blood relatives, a situation which occurs in 1–2% of all cases of TGCT. Brothers and fathers of TGCT patients have an 8–10- and 4–6-fold increased risk of TGCT, respectively, and an even higher elevated risk of TGCT in twin brothers of men with TGCT has been observed, suggesting that genetic elements play an important role in these tumours. Nevertheless, previous linkage studies with multiple FTGCT families did not uncover any high-penetrance genes and it has been concluded that the combined effects of multiple common alleles, each conferring a modest risk, might underlie FTGCT. In agreement with this assumption, recent candidate gene-association analyses have identified the chromosome Y gr/gr deletion and mutations in the PDE11A gene as genetic modifiers of FTGCT risk. Moreover, two genome-wide association studies of predominantly sporadic but also familial cases of TGCT have identified three additional susceptibility loci, KITLG , SPRY4 and BAK1 . Notably, all five loci are involved in the biology of primordial germ cells, representing the cell of origin of TGCT, suggesting that the tumours arise as a result of disturbed testicular development.</abstract><cop>Netherlands</cop><pub>Elsevier Ltd</pub><pmid>20833340</pmid><doi>10.1016/j.beem.2010.01.005</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Baillière's best practice & research. Clinical endocrinology & metabolism, 2010-06, Vol.24 (3), p.503-513 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Animals bcl-2 Homologous Antagonist-Killer Protein - genetics Chromosome Deletion Chromosome Mapping Chromosomes, Human, Y Endocrinology & Metabolism familial testicular cancer germ cell tumours genetic susceptibility Genetic Variation - genetics Genome-Wide Association Study Humans Intracellular Signaling Peptides and Proteins - genetics KITLG-KIT signalling Male Neoplasms, Germ Cell and Embryonal - genetics Neoplasms, Germ Cell and Embryonal - pathology Nerve Tissue Proteins - genetics Phosphoric Diester Hydrolases - genetics Testicular Neoplasms - genetics Testicular Neoplasms - pathology |
| title | Familial testicular germ cell tumours |
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