Rare Tumors and Cancer Predisposition in Individuals and Families
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 500
- 试验地点
- 2
- 主要终点
- Defining the natural history of familial cancers and susceptibility states over multiple generations, identifying cancer susceptibility genes, and assessing gene-environment and gene-gene interactions
研究概览
简要总结
Background:
Some people may be prone to develop cancer for many reasons. Factors that affect their risk include the genes they inherit and the environment they live and work in. Researchers want to learn more about the natural history of cancer.
Objective:
To understand how genes and environmental factors can cause tumors and related conditions.
Eligibility:
People of any age who:
Have tumors of an unusual type, pattern, or number
Have a family member with a history of cancer
Have been exposed to other factors that may increase their risk of cancer
Design:
This study does not involve treatment.
Participants will answer questions about their personal and family medical history. They will give permission for researchers to see their medical records.
Participants may be invited to the NIH Clinical Center for a physical exam. They may give samples including saliva, cheek cells, blood, urine, skin, and/or hair.
Participants with cancer may give bone marrow. A needle will be used to remove a small sample of bone marrow from their hip bone.
Participants may have a biopsy of their tumor.
Participants may have other exams:
Dental
Ear, nose, and throat
Eye
Hearing
Heart function and structure
Participants with cancer may undergo more exams:
A test of how much energy their body uses when resting
A sleep study with a test that measures brain electrical activity. They will have sensors attached to their body while they sleep overnight in a lab.
Imaging scans, such as CT, MRI, a test to measure how dense their bones are (DEXA), and ultrasound.
Participants will have their genes tested. A counsellor will help them understand the results.
Participants will be followed until at least 2035.
详细描述
Study Description: The overall purpose of this study is to comprehensively and longitudinally evaluate the natural history of participants with rare tumors, genetic syndromes, genetic variants, and/or family history consistent with or hypothesized to contribute to predisposition to cancer(s) of interest to DCEG investigators. It will also facilitate evaluation of patients who may be candidates for other NIH Clinical Center (CC) clinical trials. These individuals and families will be evaluated and followed longitudinally to define the clinical spectrum (e.g., disease course, cancer risks, response to therapies, survival) and other phenotypic manifestations associated with rare tumors, genetic variants, and cancer predisposition syndromes.
Objectives:
- To evaluate and define the clinical spectrum (phenotype), penetrance and natural history of disease in syndromes predisposing to cancer;
- To evaluate the phenotypes and natural history arising from known -or suspected- pathogenic germline variants in known -or suspected cancer-susceptibility genes;
- To evaluate potential neoplastic precursor conditions in individuals and families at risk of cancer;
- To quantify site-specific risks of such tumors in family members;
- To discover, map, and determine inheritance patterns and functions of cancer susceptibility genes;
- To identify etiologically or clinically relevant changes to the somatic genome in these patients;
- To educate and counsel study participants about cancer risk including quantitative risk assessment and communication; prevention and surveillance recommendations; early detection activities; and management recommendations, when known.
- To facilitate and enhance enrollment in interventional clinical trials within the NCI or other Institutes.
Endpoints:
Primary Endpoint: The general goals of the research conducted under this protocol are to:
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •INCLUSION CRITERIA:
- •Although specific familial syndromes vary in prevalence by sex, race or ethnicity, no one is excluded from participation by sex, gender, race or ethnicity. Since families participate in studies, the sex distribution is essentially balanced, and all ages are included. Minor children below the age of assent are actively studied only when the benefits of participation outweigh the risks.
- •Affected: An individual who meets any of the following criteria will be eligible to participate in this study:
- •Personal medical history of neoplasia of an unusual type, pattern, or number; or,
- •Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation,
- •diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.).
- •There is no age restriction; therefore including viable neonates However, children < 3 years old will not come to the Clinical Center unless clinically indicated until they are >= 3 years old.
- •Participant or their Legally Authorized Representative (LAR) must sign and date an IRB approved informed consent form (signed on paper or electronically for the Field Cohort / signed on paper for the Clinic Center Cohort)
- •Unaffected Controls: An individual who meets any of the following criteria will be eligible to participate in this study:
- •Family medical history of neoplasia of an unusual type, pattern, or number; or,
- •Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation,
- •diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.).
- •There is no age restriction; therefore including viable neonates. However, children < 3 years old will not come to the Clinical Center unless clinically indicated until they are >= 3 years old.
- •Participant or their LAR must sign and date an IRB-approved informed consent form (signed on paper or electronically for the Field Cohort / signed on paper for the Clinic Center Cohort)
- •Personal and family medical history will be verified through questionnaires, interviews, and review of pathology slides and medical records. For familial neoplasms, two or more living affected cases among family members are required. The types of suspected factors predisposing to neoplasia and/or familial tumors under active accrual and study will be investigator- and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by clusters of rare tumors in families and individuals, and to be more responsive to the dynamic research priorities in cancer genetics.
排除标准
- •Affected: An individual who meets any of the following criteria will be excluded from participation in this study:
- •Referred individuals for whom reported diagnoses cannot be verified
- •Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
- •Referred individuals who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma) Unaffected Controls: An individual who meets any of the following criteria will be excluded
- •from participation in this study:
- •Referred families for whom reported diagnoses cannot be verified
- •Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
- •Referred families who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma)
研究组 & 干预措施
Clinical Center Cohort
includes Proband, Other carriers in family, Family Controls
Field Cohort
includes Proband, Other carriers in family, Family Controls
结局指标
主要结局
Defining the natural history of familial cancers and susceptibility states over multiple generations, identifying cancer susceptibility genes, and assessing gene-environment and gene-gene interactions
时间窗: Ongoing
New cancer development or current health status
次要结局
未报告次要终点