Ignite Creation Date:
2024-05-05 @ 11:25 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00034424
Status:
COMPLETED
Last Update Posted:
2024-07-15
First Post:
2002-04-27
Brief Title:
Cause of Familial Testicular Cancer
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Multidisciplinary Etiologic Study of Familial Testicular Cancer
Status:
COMPLETED
Status Verified Date:
2024-07-31
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
Detailed Description:
BACKGROUND
Testicular germ cell tumor 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 genotypephenotypecancer 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
OBJECTIVES
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
ELIGIBILITY
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
DESIGN
International collaboration between NCIs 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 andor telephone contact Cancer outcomes will be documented through review of medical vital and pathology records Tumor tissue will be obtained whenever feasible
As of December 2021 research activities under this protocol are limited to the follow-up collection of medical records and questionnaires from consented individuals
Testicular germ cell tumor 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 genotypephenotypecancer 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
OBJECTIVES
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
ELIGIBILITY
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
DESIGN
International collaboration between NCIs 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 andor telephone contact Cancer outcomes will be documented through review of medical vital and pathology records Tumor tissue will be obtained whenever feasible
As of December 2021 research activities under this protocol are limited to the follow-up collection of medical records and questionnaires from consented individuals
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 02-C-0178 | None | None | None |