Genetic & Pathological Studies of BRCA1/BRCA2: Associated Tumors & Blood Samples

• ClinicalTrials.gov Identifier: NCT01034033
• Recruitment Status: Recruiting
• First Posted: December 17, 2009
• Last Update Posted: November 4, 2020
• Sponsor: Stanford University
• Collaborators: Breast Cancer Research Foundation; Susan G. Komen Breast Cancer Foundation
• Information provided by (Responsible Party): Stanford University

Tracking Information

• First Submitted Date: December 16, 2009
• First Posted Date: December 17, 2009
• Last Update Posted Date: November 4, 2020
• Study Start Date: August 2001
• Estimated Primary Completion Date: January 2099 (Final data collection date for primary outcome measure)
• Current Primary Outcome Measures: Not Provided
• Original Primary Outcome Measures: Not Provided
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Genetic & Pathological Studies of BRCA1/BRCA2: Associated Tumors & Blood Samples
• Official Title: Genetic & Pathological Studies of BRCA1/BRCA2: Associated Tumors & Blood Samples
• Brief Summary: The purpose of this study is to try to understand the biology of development of breast, ovarian, fallopian tube, peritoneal or endometrial cancer from persons at high genetic risk for these diseases. The influence of environmental factors on cancer development in individuals and families will be studied. The efficacy of treatments for these diseases will be evaluated.

Detailed Description

1. To establish a demographic database to evaluate the efficacy of medical interventions in patients and relatives who carry BRCA1 and 2 mutations and to compare these outcomes to patients who do not carry a BRCA1 or 2 mutation.
2. To obtain blood samples from patients who undergo genetic testing to a) evaluate the incidence of genetic modifier polymorphisms involved in the development of cancer in BRCA1 and 2 mutation carriers and to compare this incidence to non-BRCA 1 and 2 carriers. b) to understand the interaction of genetic modifiers and BRCA1 and 2 in the development of cancer. c) to determine the effect of environmental influences on the incidence of polymorphisms in genetic modifiers and on the penetrance of BRCA1 and 2 mutations by linking information from our demographic database to blood samples and
3. To obtain tumor tissue from BRCA1 and 2 carriers to utilize for gene expression studies.
4. To establish a cohort of sporadic breast cancer patients, or women with no family history of cancer in a first degree relative, to serve as a comparison group to women with strong family history of breast cancer.
5. To establish a cohort of healthy volunteers without personal or family history of cancer to serve as a comparison group to women with sporadic and familial breast cancer.

• Study Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided

Biospecimen

Retention:   Samples With DNA

Description:

blood and breast tissues

• Sampling Method: Non-Probability Sample
• Study Population: Women who have a high risk of developing breast or ovarian cancer due to a known germline mutation in the BRCA1/2, PTEN, CDH1, or TP53 cancer susceptibility genes, or due to strong family history of either breast or ovarian cancer, in the absence of known cancer susceptibility gene mutation.

Condition

• Breast Cancer
• Ovarian Cancer
• Gynecologic Cancers
• Ovarian/Peritoneal/Fallopian Cancer

• Intervention: Not Provided
• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: February 6, 2019): 3300
• Original Estimated Enrollment (submitted: December 16, 2009): 500
• Estimated Study Completion Date: January 2099
• Estimated Primary Completion Date: January 2099 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

I. Women who have a high risk of developing breast or ovarian cancer due to a known germline mutation in the BRCA1/2, PTEN, CDH1, or TP53 cancer susceptibility genes, or due to strong family history of either breast or ovarian cancer, in the absence of known cancer susceptibility gene mutation.

II. Women who are approaching surgery for resection of a pelvic mass, which is considered suspicious for neoplasia by radiologic or clinical criteria; such women may or may not also meet criteria for inclusion in group I.

Sex/Gender

• Sexes Eligible for Study: Female

• Ages: 18 Years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Contacts

Contact: Meredith Mills; (650) 724-5223; bluett@stanford.edu

• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT01034033
• Other Study ID Numbers: IRB-11872; SU-11022007-786 ( Other Identifier: Stanford University ); BRSNSTU0020 ( Other Identifier: OnCore )
• Has Data Monitoring Committee: Not Provided

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

IPD Sharing Statement

• Plan to Share IPD: No

• Responsible Party: Stanford University
• Study Sponsor: Stanford University

Collaborators

• Breast Cancer Research Foundation
• Susan G. Komen Breast Cancer Foundation

Investigators

• Principal Investigator: James M Ford; Stanford University

• PRS Account: Stanford University
• Verification Date: August 2020