The prevalence of familial testicular cancer

Dieckmann, Klaus‐Peter; Pichlmeier, Uwe

doi:10.1002/(sici)1097-0142(19971115)80:10<1954::aid-cncr12>3.0.co;2-x

Cited by 81 publications

(15 citation statements)

References 30 publications

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“…Previously reported data on age-at-diagnosis of familial TGCT are inconsistent; while some studies suggested that familial TGCT was diagnosed about 3 to 5 years earlier than sporadic cases [4, 11], which is similar to our findings, others did not show any differences [12–14]. However, most of these studies were small series with limited numbers of familial cases.…”

Section: Discussionsupporting

confidence: 85%

Younger age-at-diagnosis for familial malignant testicular germ cell tumor

et al. 2009

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Section: Discussionsupporting

confidence: 85%

Younger age-at-diagnosis for familial malignant testicular germ cell tumor

et al. 2009

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“…This historical information has recently been supplemented by a descriptive analysis of 461 kindred assembled by the ITCLC as part of its gene discovery activities (Mai et al 2009 b ). A meta-analysis indicates that an estimated 1.4% of men with newly diagnosed TGCT report a positive family history for this cancer (Dieckmann & Pichlmeier 1997). For the moment, suffice it to say that the case-report literature provides ample evidence to suggest that a hereditary form of TGCT might exist.…”

Section: Ftgcts: Does a Site-specific Genetic Syndrome Exist?mentioning

confidence: 99%

Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotype

Greene¹,

Kratz²,

Phuong³

et al. 2010

Endocrine-Related Cancer

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Familial aggregations of testicular germ cell tumor (FTGCT) have been well described, suggesting the existence of a hereditary TGCT subset. Approximately 1.4% of newly diagnosed TGCT patients report a positive family history of TGCT. Sons and siblings of TGCT patients have four- to sixfold and eight- to tenfold increases in TGCT risk respectively. Segregation analyses suggest an autosomal recessive mode of inheritance. Linkage analyses have identified several genomic regions of modest interest, although no high-penetrance cancer susceptibility gene has been mapped yet. These data suggest that the combined effects of multiple common alleles, each conferring modest risk, might underlie familial testicular cancer. Families display a mild phenotype: the most common number of affected families is 2. Age at diagnosis is 2–3 years younger for familial versus sporadic cases. The ratio of familial seminoma to nonseminoma is 1.0. FTGCT is more likely to be bilateral than sporadic TGCT. This syndrome is cancer site specific. Testicular microlithiasis is a newly recognized FTGCT component. Candidate gene-association studies have implicated the Y chromosome gr/gr deletion and PDE11A gene mutations as genetic modifiers of FTGCT risk. Two genomewide association studies of predominantly sporadic but also familial cases of TGCT have implicated the KIT-ligand, SPRY4, and BAK1 genes as TGCT risk modifiers. All five loci are involved in normal testicular development and/or male infertility. These genetic data provide a novel insight into the genetic basis of FTGCT, and an invaluable guide to future TGCT research.

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“…The age-standardized incidence rate worldwide is approximately 1.5/100,000, with substantial variations between countries [1]. Familial TGCT account for only a small number of all cases; approximately 1–3% of men with TGCT report one or more affected first-degree relatives [2, 3]. Family history is one of the few established risk factors for TGCT.…”

Section: Introductionmentioning

confidence: 99%

The International Testicular Cancer Linkage Consortium: A clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred

Phuong

Friedlander

Tucker

et al. 2010

Urologic Oncology: Seminars and Original Investigations

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SummaryObjectives-Familial aggregation of testicular germ cell tumor (TGCT) has been reported, but it is unclear if familial TGCT represents a unique entity with distinct clinicopathologic characteristics. Here we describe a collection of familial TGCT cases from an international consortium, in an effort to elucidate any clinical characteristics that are specific to this population.Materials and Methods-Families with ≥2 cases of TGCT enrolled at 18 of the sites participating in the International Testicular Cancer Linkage Consortium were included. We analyzed clinicopathologic characteristics of 985 cases from 461 families.Results-A majority (88.5%) of families had only 2 cases of TGCT. Men with seminoma (50% of cases) had an older mean age at diagnosis than nonseminoma cases (P=0.001). Among individuals with a history of cryptorchidism, TGCT was more likely to occur in the ipsilateral testis (kappa=0.65).Cousin pairs appeared to represent a unique group, with younger age at diagnosis and a higher prevalence of cryptorchidism than other families.Conclusions-Clinicopathologic characteristics in these familial TGCT cases were similar to those generally described for non-familial cases. However, we observed a unique presentation of familial TGCT among cousin pairs. Additional studies are needed to further explore this observation.

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The prevalence of familial testicular cancer

Cited by 81 publications

References 30 publications

Younger age-at-diagnosis for familial malignant testicular germ cell tumor

Younger age-at-diagnosis for familial malignant testicular germ cell tumor

Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotype

The International Testicular Cancer Linkage Consortium: A clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred

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