Cause of Familial Testicular Cancer

NCT00034424 | Completed

• 2 other identifiers: 02017802-C-0178
• Study Type: observational
• Target: 749
• Locations: 1 country
• Sites: 1

Brief Summary

Background: People with a family history of testicular cancer may be at increased risk for the disease. Genetic and clinical studies of patients with testicular cancer and their family members may help clarify the cause of the disease and identify clinical features. Objectives: To characterize the clinical features of testicular cancer. To identify genes that may lead to increased risk of the disease. To examine emotional and behavioral issues of members of families at increased risk of the disease. Eligibility: Males and females from a family with at least two cases of testicular cancer in blood relatives. Males with testicular cancer in both testicles. Males with testicular cancer who have an identical twin. Participants must be at least 12 years of age. Design: Participants may take part in Part 1 or Parts 1 and 2 of this 2-part study. Part 1 participants:

• Provide a blood or cheek cell sample to obtain DNA for gene studies.
• Provide permission for researchers to obtain their medical records for review.
• Complete questionnaires about their personal and family medical history, exposure to factors that might influence the risk of testicular cancer, and their feelings about being a member of a family in which several members have testicular cancer.
• These data are collected from participants in their home communities. Part 2 participants:
• All participants provide a medical history, have a complete physical examination, including routine lab tests, and have an ultrasound test of the abdomen to look at the kidneys.
• Males have an ultrasound test of the testicles and scrotum.
• Females have an ultrasound test of the pelvis to look at the ovaries, uterus and fallopian tubes.
• Males 18 years of age and older provide a semen sample.
• Some participants have computed tomography (CT) scanning of the chest, abdomen and pelvis instead of kidney ultrasound. Children under 18 years of age may have magnetic resonance imaging (MRI) instead of CT.
• These data are collected from participants during a 2-day visit to the NIH Clinical Center in Bethesda, MD. Travel costs are covered by the protocol.

Conditions

Testicular Cancer

Keywords

Genetics; Hereditary; Screening; Behavioral; Familial Testicular Germ Cell Tumor; Natural History; Testicular Cancer

Outcome Measures

Primary Outcomes (4)

• Families with Familial Testicular Germ Cell Tumors

  Ascertain new familiies with FTGCTs

  Ongoing

• Clinical Features

  Characterize the clinical features of familial TGC

  Ongoing

• Genetic Mechanisms

  Determine the underlying genetic mechanism for susceptibility to TGCT in families

  Ongoing

• Psychosocial Factors

  Evaluate psychosocial issues related to FGCT

  Ongoing

Study Arms (1)

1

individuals from families with familial TGCT

Eligibility Criteria

• Age: 12 Years - 77 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

A non-randomized cohort study of individuals from families with a significant history of testicular cancer.

You may qualify if:

• Study population:
• Patients must be members of families with familial TGCT as defined below.
• Definition of familial TGCT:
• The criterion establishing familial TGCT is the presence of:
• at least two cases of documented GCT in blood relatives (at least one of which is testicular in origin),
• a single family member with bilateral testicular cancer,
• men with a history of TGCT who are one in a set of identical siblings will also be included in the study.
• Case definition:
• A case will be determined to have TGCT according to the following criteria:
• Pathologic confirmation of a germ cell derived tumor arising in the testis. Extragonadal germ cell tumors will also be included.
• Germ cell derived histologies including: seminoma, germinoma, embryonal carcinoma, endodermal sinus (yolk sac) tumor, gonadoblastoma, choriocarcinoma, teratoma, and mixed germ cell tumor.
• A case will be determined to have TIN on the basis of pathologic confirmation of intratubular malignant germ cells (ITMGCs) as defined by Burke and Mostofi.
• Individuals from participating families who are eligible for this study include:
• i) all TGCT cases;
• ii) all GCT cases (including those of ovarian or extra-gonadal sites);

You may not qualify if:

• Families will be deemed ineligible for participation in this study if:
• There are not at least two confirmed cases of GCT in the family, (at least one of which is testicular in origin), unless there is a family member with bilateral testicular cancer;
• Deceased TGCT cases lacking both archival sources of tissue for DNA extraction AND lacking surviving spouses and children who are willing to participate in the study (the unavailability of such persons prohibits inferring the genotype of the deceased individual with TGCT);
• Critical informative family members are unwilling to participate (i.e., unwilling to provide written informed consent);

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA. Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition. J Clin Endocrinol Metab. 2013 Aug;98(8):E1393-400. doi: 10.1210/jc.2012-2838. Epub 2013 Jun 14.

  PMID: 23771924 BACKGROUND

• Chung CC, Kanetsky PA, Wang Z, Hildebrandt MA, Koster R, Skotheim RI, Kratz CP, Turnbull C, Cortessis VK, Bakken AC, Bishop DT, Cook MB, Erickson RL, Fossa SD, Jacobs KB, Korde LA, Kraggerud SM, Lothe RA, Loud JT, Rahman N, Skinner EC, Thomas DC, Wu X, Yeager M, Schumacher FR, Greene MH, Schwartz SM, McGlynn KA, Chanock SJ, Nathanson KL. Meta-analysis identifies four new loci associated with testicular germ cell tumor. Nat Genet. 2013 Jun;45(6):680-5. doi: 10.1038/ng.2634. Epub 2013 May 12.

  PMID: 23666239 BACKGROUND

• Schumacher FR, Wang Z, Skotheim RI, Koster R, Chung CC, Hildebrandt MA, Kratz CP, Bakken AC, Bishop DT, Cook MB, Erickson RL, Fossa SD, Greene MH, Jacobs KB, Kanetsky PA, Kolonel LN, Loud JT, Korde LA, Le Marchand L, Lewinger JP, Lothe RA, Pike MC, Rahman N, Rubertone MV, Schwartz SM, Siegmund KD, Skinner EC, Turnbull C, Van Den Berg DJ, Wu X, Yeager M, Nathanson KL, Chanock SJ, Cortessis VK, McGlynn KA. Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23. Hum Mol Genet. 2013 Jul 1;22(13):2748-53. doi: 10.1093/hmg/ddt109. Epub 2013 Mar 5.

  PMID: 23462292 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Testicular Neoplasms; Behavior

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Genital Neoplasms, Male; Urogenital Neoplasms; Genital Diseases, Male; Genital Diseases; Urogenital Diseases; Male Urogenital Diseases; Endocrine System Diseases; Testicular Diseases; Gonadal Disorders

Study Officials

• Douglas R Stewart, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 27, 2002
• First Posted: April 29, 2002
• Study Start: January 13, 2003
• Last Updated: April 17, 2026

Record last verified: 2026-04-15

Locations

US (1)