Familial testicular germ cell tumor: no associated syndromic pattern identifiedReport as inadecuate

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Hereditary Cancer in Clinical Practice

, 12:3

First Online: 21 February 2014Received: 02 July 2013Accepted: 12 February 2014DOI: 10.1186-1897-4287-12-3

Cite this article as: Mueller, C.M., Korde, L.A., McMaster, M.L. et al. Hered Cancer Clin Pract 2014 12: 3. doi:10.1186-1897-4287-12-3


BackgroundTesticular 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.

MethodsWe 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.

ResultsThe 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.

ConclusionsOverall, 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.

KeywordsFamilial testicular cancer Dysmorphology Developmental anomalies  Download fulltext PDF

Author: Christine M Mueller - Larissa A Korde - Mary L McMaster - June A Peters - Gennady Bratslavsky - Rissah J Watkins - Alex

Source: https://link.springer.com/

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