Protocol Number: 02-C-0212

Title:

Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer

Number:

02-C-0212

Summary:

This study is a syndrome-specific subset of a long-standing Genetic Epidemiology Branch, Human Genetics Program, Division of Cancer Epidemiology and Genetics 'umbrella' family studies protocol. Certain individuals and their relatives are asked to complete questionnaires and to undergo clinical evaluations related to the syndrome under study. They are monitored by periodic mail or telephone contact. Some return to the NIH Clinical Center for periodic follow-up examinations. They donate blood and tissue specimens for testing.

The Hereditary Breast/Ovarian Cancer Family Studies Registry contains more than 3,000 individuals from 68 different families. They are candidates for various proposed National Cancer Institute (NCI) studies. This study may add individuals and families to that registry.

This study will follow individuals and families at high risk of breast, ovarian, and other related cancers due to known or suspected genetic factors. Its primary goals include the following:

- evaluate and define the disease in syndromes that predispose to familial breast or ovarian cancer

- develop a resource of information on families predisposed to the diseases; track cancer occurrences and other diseases in such families

- evaluate precursor states in members of such families

- quantify their risk of specific tumors

- identify genetic and environmental modifiers of cancer risk in members of such families

- evaluate gene-gene and gene-environment interactions in the development of breast and ovarian cancer

- create a repository of biospecimens for study

The secondary goals of the study are to provide genetic counseling and germline mutation testing, with results disclosure when appropriate to those who desire it, and to develop syndrome-specific educational materials for members of high-risk families and medical professionals.

Individuals and families potentially eligible for the study include the following:

- Families with an unusual type, pattern, or number of tumors that include breast cancer or that are consistent with an identified or suspected familial cancer syndrome that includes breast and/or ovarian cancer

- Individuals with a personal history of tumors or benign conditions of an unusual type or with unusual demographic features (e.g., young age of onset, multiple primary sites, rare tumor type)

- Families of an individual with a known mutation in the BRCA1 or BRCA2 gene

NOTE: At the present time, this protocol is considering referrals ONLY for persons who are known to carry mutations in the BRCA1 or BRCA2 genes.

Sponsoring Institute:

National Cancer Institute (NCI)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): Children

Eligibility Criteria:

INCLUSION CRITERIA:

The following types of individuals and families would be potentially eligible for study:

Families with neoplasias of an unusual type, pattern, or number which includes breast cancer or is consistent with an identified or suspected familial cancer syndrome which includes breast and/or ovarian cancer. Included in this category would be families with a history of cancer consistent with any of the known syndromes: the familial breast/ovarian syndrome, Li-Fraumeni syndrome, Peutz-Jegher, Cowden Syndrome. Families with multiple cases of breast cancer among first- and second- degree relatives and the occurrence of other cancers which do not fit into a well-characterized syndrome, would also be of potential interest. For example, we would be interested in studying families with the occurrence of multiple breast and colorectal cancers.

Additionally, individuals with a personal history of neoplasia(s) or benign conditions of an unusual type or with unusual demographic features (young age of onset, multiple primary sites, rare tumor type of pathologic characteristics) may trigger an initial evaluation of the family.

Families of an individual with a known mutation in the BRCA1 or BRCA2 gene would be eligible for enrollment.

EXCLUSION CRITERIA:

Individuals and families referred for evaluation in whom reported diagnoses are not verifiable.

Inability to provide informed consent.

Special Instructions: Currently Not Provided

Keywords:

BRCA1/2

Hereditary Cancer

Cancer Susceptability

Li-Fraumeni

Cowden's

Recruitment Keywords:

Breast Cancer

Ovarian Cancer

Cowden Syndrome

Peutz-Jegher Syndrome

Li-Fraumeni Syndrome

Conditions:

Breast Neoplasms

Ovarian Neoplasms

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Greenlee RT, Hill-Harmon MB, Murray T, Thun M Cancer statistics, 2001 CA Cancer J Clin 2001 Jan-Feb;51(1):15-36 PMID: 11577478

Easton DF, Bishop DT, Ford D, Crockford GP Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families The Breast Cancer Linkage Consortium Am J Hum Genet 1993 Apr;52(4):678-701 PMID: 8460634

Wooster R, et al Localization of a breast cancer susceptibility gene, BRCA2, to chromosome13q12-13 Science 1994 Sep 30;265(5181):2088-90 PMID: 8091231

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/20/2004