Study
of Individuals and Families at High Risk of Cancer
This study
is currently recruiting patients.
Sponsored by
National Cancer Institute
(NCI)
Purpose
RATIONALE: Studying individuals and
families at high risk of cancer may help to identify other persons at risk and identify
cancer genes. PURPOSE: Study to identify genetic and environmental factors related to
cancer risk in individuals and families at high risk of cancer.
Condition
|
lung
cancer childhood soft tissue sarcoma leukemia skin cancer bone cancer ovarian sarcoma melanoma testicular cancer ovarian epithelial cancer lymphoma bladder cancer brain tumor breast cancer eye cancer |
Study Type: Genetic
Official Title: Genetic, Clinical, and Epidemiological Study of
Individuals and Families at High Risk of Cancer
Further Study Details: OBJECTIVES: I. Identify individuals at
high risk of cancer, especially due to personal or family medical history. II. Evaluate
and define clinical spectrum of disease in syndromes predisposing to cancer. III. Quantify
risks of tumors in family members. IV. Map, clone, and determine function of tumor
susceptibility genes. V. Identify genetic determinants and gene-environmental interactions
conferring cancer risk in individuals and families. VI. Evaluate gene-gene and
gene-environmental interactions in tumor formation. PROTOCOL OUTLINE: Individuals
and families undergo clinical evaluation consisting of at least a medical history,
physical examination, and testing of blood specimens. Other biologic specimens may also be
obtained from some patients, and some patients may undergo other diagnostic studies and
examinations, depending on the type of familial neoplasm being studied. If a family is
already participating in the study and a specific mutation in a tumor predisposing gene
has already been identified in the family, individuals may be eligible for genetic
testing. Genes tested include RB1, APC, BRCA1/2, NF2, and VHL. Individuals under age 18
are only eligible to be tested for APC (familial adenomatous polyposis), NF2
(neurofibromatosis type 2), PTCH (nevoid basal cell carcinoma syndrome), RB1
(retinoblastoma), and VHL (von Hippel-Lindau disease). Individuals may receive results of
the genetic testing and genetic counseling is offered to all individuals who are tested. A
certificate of confidentiality protecting the identity of research participants in this
project has been issued by the National Cancer Institute. Families are followed at least
yearly. PROJECTED ACCRUAL: A total of 7,500 individuals will be accrued for this
study.
Eligibility
Ages Eligible for Study: up to
95 Years Criteria
PROTOCOL ENTRY CRITERIA: --Disease
Characteristics-- Family or personal medical history of neoplasia of unusual type,
pattern, or number Two or more living affected cases required The following types of
familial cancers are eligible: Bladder Brain Breast (with or without ovarian cancer)
Chordoma Lymphoproliferative Acute and chronic leukemias Hodgkin's disease Non-Hodgkin's
lymphoma Waldenstrom's macroglobulinemia Lung Melanoma Ovarian (with or without breast
cancer) Testicular Nevoid basal cell carcinoma syndrome (NBCC) Li-Fraumeni syndrome
Childhood sarcomas Early onset breast cancer Brain tumors Leukemias among relatives
Beckwith-Wiedemann syndrome with cancers Retinoblastoma The following types of familial
benign neoplasms are eligible: Meningiomas Neurofibromatosis type 2 (bilateral acoustic
neurofibromatosis) OR Known or suspected factor(s) predisposing to neoplasia:
Environmental exposure Medications Occupation Radiation Diet Infectious agents Genetic
and/or congenital factors Birth defects Metabolic phenotype Chromosomal anomalies
Mendelian traits associated with tumors Unusual demographic features Personal and family
medical history must be verified through questionnaires, interviews, and review of
pathology slides and medical records --Prior/Concurrent Therapy-- Not specified --Patient
Characteristics-- Age: 1 month to 95 years Performance status: Not specified Life
expectancy: Not specified Hematopoietic: Not specified Hepatic: Not specified Renal: Not
specified
Location and Contact Information
Maryland
Genetic Epidemiology Branch, Bethesda,
Maryland, 20892, United States; Recruiting
Margaret A. Tucker
301-496-4375
Study chairs or principal investigators
Margaret A. Tucker, Study Chair
National Cancer Institute (NCI)
More Information
Study ID Numbers 199/14412;
NCI-78-C-0039
NLM Identifier NCT00004007
Date study started January 1, 1978