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Familial testicular germ cell tumor: no associated syndromic pattern identified

BACKGROUND: Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposi...

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Autores principales: Mueller, Christine M, Korde, Larissa A, McMaster, Mary L, Peters, June A, Bratslavsky, Gennady, Watkins, Rissah J, Ling, Alex, Kratz, Christian P, Wulfsberg, Eric A, Rosenberg, Philip S, Greene, Mark H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937045/
https://www.ncbi.nlm.nih.gov/pubmed/24559313
http://dx.doi.org/10.1186/1897-4287-12-3
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author Mueller, Christine M
Korde, Larissa A
McMaster, Mary L
Peters, June A
Bratslavsky, Gennady
Watkins, Rissah J
Ling, Alex
Kratz, Christian P
Wulfsberg, Eric A
Rosenberg, Philip S
Greene, Mark H
author_facet Mueller, Christine M
Korde, Larissa A
McMaster, Mary L
Peters, June A
Bratslavsky, Gennady
Watkins, Rissah J
Ling, Alex
Kratz, Christian P
Wulfsberg, Eric A
Rosenberg, Philip S
Greene, Mark H
author_sort Mueller, Christine M
collection PubMed
description BACKGROUND: Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposition. Linkage data have not identified a rare, highly-penetrant, single gene in familial TGCT (FTGCT) cases. Based on its association with congenital GU tract anomalies and suggestions that there is an intrauterine origin to TGCT, we hypothesized the existence of unrecognized dysmorphic features in FTGCT. METHODS: We evaluated 38 FTGCT individuals and 41 first-degree relatives from 22 multiple-case families with detailed dysmorphology examinations, physician-based medical history and physical examination, laboratory testing, and genitourinary imaging studies. RESULTS: The prevalence of major abnormalities and minor variants did not significantly differ between either FTGCT individuals or their first-degree relatives when compared with normal population controls, except for tall stature, macrocephaly, flat midface, and retro-/micrognathia. However, these four traits were not manifest as a constellation of features in any one individual or family. We did detect an excess prevalence of the genitourinary anomalies cryptorchidism and congenital inguinal hernia in our population, as previously described in sporadic TGCT, but no congenital renal, retroperitoneal or mediastinal anomalies were detected. CONCLUSIONS: Overall, our study did not identify a constellation of dysmorphic features in FTGCT individuals, which is consistent with results of genetic studies suggesting that multiple low-penetrance genes are likely responsible for FTGCT susceptibility.
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spelling pubmed-39370452014-02-28 Familial testicular germ cell tumor: no associated syndromic pattern identified Mueller, Christine M Korde, Larissa A McMaster, Mary L Peters, June A Bratslavsky, Gennady Watkins, Rissah J Ling, Alex Kratz, Christian P Wulfsberg, Eric A Rosenberg, Philip S Greene, Mark H Hered Cancer Clin Pract Research BACKGROUND: Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposition. Linkage data have not identified a rare, highly-penetrant, single gene in familial TGCT (FTGCT) cases. Based on its association with congenital GU tract anomalies and suggestions that there is an intrauterine origin to TGCT, we hypothesized the existence of unrecognized dysmorphic features in FTGCT. METHODS: We evaluated 38 FTGCT individuals and 41 first-degree relatives from 22 multiple-case families with detailed dysmorphology examinations, physician-based medical history and physical examination, laboratory testing, and genitourinary imaging studies. RESULTS: The prevalence of major abnormalities and minor variants did not significantly differ between either FTGCT individuals or their first-degree relatives when compared with normal population controls, except for tall stature, macrocephaly, flat midface, and retro-/micrognathia. However, these four traits were not manifest as a constellation of features in any one individual or family. We did detect an excess prevalence of the genitourinary anomalies cryptorchidism and congenital inguinal hernia in our population, as previously described in sporadic TGCT, but no congenital renal, retroperitoneal or mediastinal anomalies were detected. CONCLUSIONS: Overall, our study did not identify a constellation of dysmorphic features in FTGCT individuals, which is consistent with results of genetic studies suggesting that multiple low-penetrance genes are likely responsible for FTGCT susceptibility. BioMed Central 2014-02-21 /pmc/articles/PMC3937045/ /pubmed/24559313 http://dx.doi.org/10.1186/1897-4287-12-3 Text en Copyright © 2014 Mueller et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited.
spellingShingle Research
Mueller, Christine M
Korde, Larissa A
McMaster, Mary L
Peters, June A
Bratslavsky, Gennady
Watkins, Rissah J
Ling, Alex
Kratz, Christian P
Wulfsberg, Eric A
Rosenberg, Philip S
Greene, Mark H
Familial testicular germ cell tumor: no associated syndromic pattern identified
title Familial testicular germ cell tumor: no associated syndromic pattern identified
title_full Familial testicular germ cell tumor: no associated syndromic pattern identified
title_fullStr Familial testicular germ cell tumor: no associated syndromic pattern identified
title_full_unstemmed Familial testicular germ cell tumor: no associated syndromic pattern identified
title_short Familial testicular germ cell tumor: no associated syndromic pattern identified
title_sort familial testicular germ cell tumor: no associated syndromic pattern identified
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937045/
https://www.ncbi.nlm.nih.gov/pubmed/24559313
http://dx.doi.org/10.1186/1897-4287-12-3
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