title: Testicular microlithiasis as a familial risk factor for testicular germ cell tumour.
abstract: Testicular microlithiasis (TM) is characterised by small intratesticular calcifications, which can be visualised by ultrasound. Men with testicular germ cell tumour (TGCT) have a higher frequency of TM than men without TGCT. To clarify the association between TGCT and TM and to investigate the relationship between TGCT susceptibility and TM, we recruited TGCT patients with and without family history of TGCT, unaffected male relatives and healthy male controls from the UK. Testicular ultrasound data were analysed from 328 men. Testicular microlithiasis was more frequent in TGCT cases than controls (36.7 vs 17.8%, age adjusted P<0.0001) and in unaffected male relatives than controls (34.5 vs 17.8%, age adjusted P=0.02). Testicular germ cell tumour case and matched relative pairs showed greater concordance for TM than would be expected by chance (P=0.05). We show that TM is present at a higher frequency in relatives of TGCT cases than expected by chance indicating that TM is a familial risk factor for TGCT. Although the familiality of TM could be due to shared exposures, it is likely that there exists a genetic susceptibility to TM that also predisposes to TGCT. We suggest that TM is an alternative manifestation of a TGCT susceptibility allele.
authors.affiliation: Testicular Cancer Genetics Team, Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
authors.forename: J
authors.initials: J
authors.lastname: Coffey
authors.forename: R A
authors.initials: RA
authors.lastname: Huddart
authors.forename: F
authors.initials: F
authors.lastname: Elliott
authors.forename: S A
authors.initials: SA
authors.lastname: Sohaib
authors.forename: E
authors.initials: E
authors.lastname: Parker
authors.forename: D
authors.initials: D
authors.lastname: Dudakia
authors.forename: J L
authors.initials: JL
authors.lastname: Pugh
authors.forename: D F
authors.initials: DF
authors.lastname: Easton
authors.forename: D T
authors.initials: DT
authors.lastname: Bishop
authors.forename: M R
authors.initials: MR
authors.lastname: Stratton
authors.forename: E A
authors.initials: EA
authors.lastname: Rapley
mesh_terms: D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D020347:Lithiasis / Q000235:genetics*; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000235:genetics*; D012307:Risk Factors; D013736:Testicular Neoplasms / Q000235:genetics*