• Ascertain new families with familial testicular germ cell tumors (TGCT)
• Characterize the clinical features (phenotype) of familial TGCT with data acquired through medical history, physical examination, dysmorphology examination, imaging studies, and laboratory samples
• Underlying genetic mechanism for susceptibility to TGCT in families by genome-wide linkage analysis, dense genotyping marker panels targeted at candidate regions, positional cloning, candidate gene testing through collaboration with the International ...
• Evaluate various parameters related to psychosocial and behavioral issues resulting from being a member of a family at increased risk of TGCT by assessing genetic knowledge, interest in genetic testing, reproductive decision-making, quality of life, ...
• Create a repository of biological samples from members of high-risk families for subsequent etiologic and translational research by collection of serum, plasma, whole blood, DNA, semen, and tumor tissue

RATIONALE: Studying members of families with testicular cancer may help to identify genetic susceptibility.

PURPOSE: Study to identify new families with familial testicular cancer to determine genetic susceptibility.

OBJECTIVES:

• Identify new families with familial testicular germ cell tumors (TGCT).
• Determine the clinical features of familial TGCT.
• Determine the underlying genetic mechanism for susceptibility to familial TGCT.
• Determine the various parameters related to psychosocial and behavioral issues resulting from being a member of a family at increased risk of TGCT.

OUTLINE: This is a two-part study.

• Part 1 (genetic study): Participants contribute DNA for analysis. Participants also complete personal and family medical history, risk factor exposure, and psychosocial and behavioral questionnaires.
• Part 2 (etiology study): Participants undergo clinical evaluation including physical exam, blood tests, and imaging studies (CT scan or MRI and ultrasound) of the chest, abdomen, pelvis, and gonads.

A certificate of confidentiality protecting the identity of research participants in this project has been issued by the National Cancer Institute.

Participants do not receive the results of the genetic analysis, which is aimed at finding new testicular cancer susceptibility genes. The results do not influence the type or duration of treatment. Genetic testing for mutations in known genes cannot be performed, as none of these genes have yet been identified.

Participants are followed annually for 5 years.

PROJECTED ACCRUAL: Approximately 750 participants will be accrued for this study within 5 years.

• Childhood Germ Cell Tumor
• Extragonadal Germ Cell Tumor
• Ovarian Cancer
• Testicular Germ Cell Tumor

• Genetic: genetic linkage analysis
• Other: biologic sample preservation procedure
• Other: laboratory biomarker analysis
• Procedure: psychosocial assessment and care
• Procedure: quality-of-life assessment

• Mai PL, Korde L, Kramer J, Peters J, Mueller CM, Pfeiffer S, Stratakis CA, Pinto PA, Bratslavsky G, Merino M, Choyke P, Linehan WM, Greene MH. A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report. J Med Case Reports. 2007 Mar 28;1:9.
• Mueller CM, Korde L, Katki HA, Rosenberg PS, Peters JA, Greene MH. Constitutional cytogenetic analysis in men with hereditary testicular germ cell tumor: no evidence of disease-related abnormalities. Cancer Epidemiol Biomarkers Prev. 2007 Dec;16(12):2791-4. No abstract available.
• Peters JA, Vadaparampil ST, Kramer J, Moser RP, Court LJ, Loud J, Greene MH. Familial testicular cancer: interest in genetic testing among high-risk family members. Genet Med. 2006 Dec;8(12):760-70.
• Rapley EA, Crockford GP, Easton DF, Stratton MR, Bishop DT; International Testicular Cancer Linkage Consortium. Localisation of susceptibility genes for familial testicular germ cell tumour. APMIS. 2003 Jan;111(1):128-33; discussion 33-5.

DISEASE CHARACTERISTICS:

• Members of families with familial testicular germ cell tumor (TGCT) defined by 1 of the following:

  • At least 2 documented cases of germ cell tumor (at least 1 of which is testicular in origin) in blood relatives
  • A single family member with bilateral testicular cancer

  • Men with a history of TGCT who are one in a set of identical siblings

    • The unaffected identical sibling must also agree to participate in the study

• TGCT case defined as histologically confirmed germ cell-derived tumor arising in the testis

  • Seminoma
  • Germinoma
  • Embryonal carcinoma
  • Endodermal sinus (yolk sac) tumor
  • Gonadoblastoma
  • Choriocarcinoma
  • Teratoma
  • Mixed germ cell tumor
  • Extragonadal germ cell tumors allowed

• Eligible individuals from participating families include:

  • All TGCT patients
  • All GCT patients, including those with ovarian or extragonadal germ cell tumors
  • All first-degree relatives of each TGCT patient
  • Spouse of every TGCT patient if the spouse and patient had children who are participating in the study
  • Any other blood relative who genetically links 2 patients
  • Any blood relative with cancer other than TGCT
• Families of deceased TGCT patients are eligible only if the surviving spouse and children are willing to participate in the study
• Critical informative family members must be willing to participate

PATIENT CHARACTERISTICS:

Age:

• 12 and over

Performance status:

• Not specified

Life expectancy:

• Not specified

Hematopoietic:

• Not specified

Hepatic:

• Not specified

Renal:

• Not specified

PRIOR CONCURRENT THERAPY:

Biologic therapy:

• Not specified

Chemotherapy:

• Not specified

Endocrine therapy:

• Not specified

Radiotherapy:

• Not specified

Surgery:

• Not specified