Multidisciplinary Etiologic Study of Familial Testicular Cancer
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 749
- 试验地点
- 1
- 主要终点
- Psychosocial Factors
研究概览
简要总结
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.
详细描述
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 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.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Other
入排标准
- 年龄范围
- 12 Years 至 77 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA:
- •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);
- •iii) all first-degree relatives of each GCT 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 GCT
- •vii) family members as described in i) - v) above must be age 12 or greater in order to participate
排除标准
- •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);
研究组 & 干预措施
1
individuals from families with familial TGCT
结局指标
主要结局
Psychosocial Factors
时间窗: Ongoing
Evaluate psychosocial issues related to FGCT
Genetic Mechanisms
时间窗: Ongoing
Determine the underlying genetic mechanism for susceptibility to TGCT in families
Clinical Features
时间窗: Ongoing
Characterize the clinical features of familial TGC
Families with Familial Testicular Germ Cell Tumors
时间窗: Ongoing
Ascertain new familiies with FTGCTs
次要结局
未报告次要终点