Bethesda, Maryland 20892

  • Testicular Germ Cell Tumor


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.

Study summary:

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.


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



Primary Contact:

Principal Investigator
Christian Kratz
NCI - Medical Genetics Branch

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

CGB Family Studies Research Nurse
Phone: 800-518-8474

Site Status: Recruiting

Data Source:

Date Processed: December 07, 2022

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