Cause of Familial Testicular Cancer
|First Received Date ICMJE||April 27, 2002|
|Last Updated Date||June 30, 2017|
|Start Date ICMJE||April 24, 2002|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00034424 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Cause of Familial Testicular Cancer|
|Official Title ICMJE||Multidisciplinary Etiologic Study of Familial Testicular Cancer|
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.
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.
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.
Participants may take part in Part 1 or Parts 1 and 2 of this 2-part study.
Part 1 participants:
Part 2 participants:
Testicular germ cell tumors (TGCT) is the most common cancer in men aged 20-35, with an increasing incidence since the mid-twentieth century.
A family history of TGCT is associated with an increased risk of the disease.
Evidence suggests that there is genetic heterogeneity in familial TGCT, thereby creating opportunities for both new susceptibility gene discovery and searching for genotype/phenotype/cancer correlations.
Search for genitourinary developmental anomalies and for testicular intraepithelial neoplasia (TIN) cells which are thought to be the precursor of the vast majority of TGCT could help clarify the etiology and identify clinical features.
This project is both etiologic and clinical in its focus, and its goal is to acquire a comprehensive understanding of both the genetic and non-genetic factors which contribute to the risk of familial TGCT.
Ascertain new families with familial testicular germ cell tumors.
Characterize the clinical features of familial TGCT.
Determine the underlying genetic mechanism for susceptibility to TGCT in families; one specific goal is to confirm, and then to clone, the hereditary testicular cancer gene which has been mapped to chromosome Xq27.
Evaluate various parameters related to psychosocial and behavioral issues resulting from being a member of a family at increased risk of TGCT.
A single family member with bilateral testicular cancer.
Individuals of both genders from a family with at least two cases of documented GCT in blood relatives (at least one of which is testicular in origin) and with at least one of the GCT cases in their family willing to participate in the study.
Men with a history of TGCT who have a monozygotic twin brother (the unaffected identical sibling must also agree to participate).
Families will be deemed ineligible if critical informative family members lacking surviving spouses and children are unable to provide germ line DNA
Minor children under age 12 will not be eligible for study participation.
International collaboration between NCI's Clinical Genetics Branch and the International Testicular Cancer Linkage Consortium (ITCLC), via contribution of DNA.
Non-randomized cohort study with an estimated accrual of 75 and 100 new TGCT families over a period of 5 years and approximately 40 families willing to visit the NIH Clinical Center.
Individuals and family members will be asked to contribute baseline questionnaires as well as questionnaires regarding lifestyle, feelings, attitudes and behavior that relate to being part of a high-risk family, and DNA for gene mapping and cloning efforts.
Detailed, in-person, etiologically-oriented evaluation at the NIH Clinical Center includes a comprehensive history and physical examination, laboratory testing, and ultrasound imaging of the kidneys and gonads to identify the clinical features and seek clinically occult TGCT and TIN. CT imaging studies of the chest, abdomen, and pelvis will be performed when indicated.
Study participants will be monitored prospectively for the development of outcomes of interest by means of periodic mail and/or telephone contact. Cancer outcomes will be documented through review of medical, vital, and pathology records. Tumor tissue will be obtained whenever feasible.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Observational Model: Family-Based
Time Perspective: Other
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Testicular Cancer|
|Intervention ICMJE||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||1750|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
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 case will be determined to have TGCT according to the following criteria:
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);
iii) all first-degree relatives of each TGCT case;
iv) the spouse(s) of every case if the spouse and case had children who are participating in the study;
v) any blood relative not included in (ii - iii) above who genetically links two cases; and
vi) any blood relative with cancer other than TGCT
vii) family members as described in i) - v) above must be age 12 or greater in order to participate
Families will be deemed ineligible for participation in this study if:
There are not at least two proven cases of GCT in the family, 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 paricipate in the study (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);
|Ages||12 Years to 100 Years (Child, Adult, Senior)|
|Accepts Healthy Volunteers||Yes|
|Listed Location Countries ICMJE||United States|
|Removed Location Countries|
|NCT Number ICMJE||NCT00034424|
|Other Study ID Numbers ICMJE||020178
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )|
|Study Sponsor ICMJE||National Cancer Institute (NCI)|
|Collaborators ICMJE||Not Provided|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||February 2, 2017|
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