Family study aims to unlock secrets of hereditary breast and ovarian cancer
NCT ID NCT00040222
First seen Jun 27, 2026 · Last updated Sep 17, 2026 · Updated 13 times
Summary
This completed study enrolled 377 individuals and families with a high risk of breast or ovarian cancer due to known or suspected genetic factors. Researchers collected medical records, questionnaires, and biological samples to better understand the disease's natural history and genetic causes. No treatment was provided, but participants received genetic counseling and referrals if needed. The goal was to create a resource for future research into cancer prevention and early detection.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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377 people
The number who actually took part.
- Started
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Jul 2002
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Individuals and families with known or suspected syndromes that include breast, ovarian or genetically-related cancers are enrolled in this family study.
- Ages
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18 to 100 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: Individuals age 18 and over are considered for inclusion in the study if they have a: Family history of neoplasia 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, 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) consistent with an identified or suspected familial cancer syndrome which includes breast and/or ovarian cancer, or A known mutation associated with one of the breast/ovarian cancer family syndromes. Eligibility is now restricted to only bloodline individuals age 18 and over from families which are already enrolled in 02-C-0212 and in which there is a known BRCA mutation Personal and family medical history must be verified through questionnaires, interviews, and review of pathology slides and medical records. For known or suspected familial syndromes in which no gene has been identified, two or more living affected cases among family members are required for participation. The types of familial syndromes under active accrual and study are predominantly investigator-and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by unexpected clusters of rare tumors in families and individuals, and to tailor the accrual of families with specific types of syndromes to meet programmatic goals. This requires that CGB investigators remain abreast of both general knowledge and state-of the-art developments in clinical oncology, genetics, epidemiology and molecular biology, so that critical research opportunities can be recognized when they present, and so that thoughtful decisions can be made regarding the commitment of the resources needed to conduct such studies. EXCLUSION CRITERIA: Individuals and families referred for evaluation in whom reported diagnoses are not verifiable. Inability to provide informed consent.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States