Familial testicular germ cell tumor: no associated syndromic pattern identified.

ABSTRACT:

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 an

SUBMITTER: Mueller CM 

PROVIDER: S-EPMC3937045 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature