BRCA Mutation Analysis for Breast and Ovarian Cancer

Not currently recruiting at 8 trial locations

Overseen By Mark Robson, MD

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Memorial Sloan Kettering Cancer Center

Disqualifiers: Physical, cognitive, psychiatric conditions, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

What You Need to Know Before You Apply

What is the purpose of this trial?

The trial aims to understand how changes in certain genes, particularly the BRCA genes, affect cancer risk in families. It focuses on breast and ovarian cancers and seeks to identify whether a genetic mutation (a change in DNA) increases cancer risk. Participants may undergo BRCA gene testing to check for mutations and receive recommendations on cancer screening or prevention. This trial suits those concerned about their breast cancer risk, especially if they have a family history or have been referred for genetic counseling. As an unphased trial, it offers participants the opportunity to contribute to groundbreaking research that could lead to better understanding and prevention strategies for hereditary cancers.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the study team or your doctor.

What prior data suggests that BRCA gene testing is safe?

Research has shown that the BRCA gene test and other genetic tests for breast and ovarian cancer risk pose no medical risk. The test is straightforward and checks for changes in the BRCA1 and BRCA2 genes, which are linked to a higher risk of these cancers. While the test itself is safe, understanding the results is crucial. A harmful change may indicate a higher cancer risk, but the test does not physically affect health. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about BRCA gene testing because it offers a more personalized approach to understanding cancer risk compared to traditional methods. Unlike standard treatments that focus on managing existing cancer, BRCA gene testing helps identify individuals who carry mutations that significantly increase their risk for developing certain cancers, like breast and ovarian cancer. This proactive approach allows for earlier intervention and more targeted surveillance, potentially preventing cancer development or catching it at a much more treatable stage. By understanding a person's genetic risk, doctors can tailor prevention strategies more effectively, which is a game-changer in cancer prevention and management.

What evidence suggests that BRCA gene testing might be an effective treatment for cancer risk assessment?

Research shows that testing for BRCA genes can identify changes that increase the risk of breast and ovarian cancer. About 5.7% of those tested receive a positive result, indicating a gene change that raises their cancer risk. Identifying these changes enables individuals to take preventive measures or undergo regular check-ups for early detection. Studies have shown that BRCA testing usage has increased over the years, helping people better understand their risks. Even if the test does not detect a mutation, the results can still guide important health decisions. ^{1 6 7 8 9}

Who Is on the Research Team?

Kenneth Offit, MD

Principal Investigator

Memorial Sloan Kettering Cancer Center

Are You a Good Fit for This Trial?

Inclusion Criteria

Families referred for genetic counseling consultation at Memorial Hospital

Individuals self-referred or physician referred for genetic counseling due to a concern about increased risk for breast cancer, regardless of family history or ethnic origin.

Individuals enrolled in MSK protocol 97-029 "Germline BRCA1 and BRCA2 mutations in Jewish Women Affected by Breast Cancer"

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genetic Testing

Participants undergo genetic testing for BRCA1, BRCA2, and potentially other genes associated with breast cancer predisposition

Ongoing

Follow-up

Participants are monitored for health and well-being, with a follow-up questionnaire beginning in 2019

2 years

What Are the Treatments Tested in This Trial?

Interventions

• BRCA Gene Testing

Who Is Running the Clinical Trial?

Memorial Sloan Kettering Cancer Center

Lead Sponsor

Trials

1,998

Recruited

602,000+

Cold Spring Harbor Laboratory

Collaborator

Trials

11

Recruited

20,100+

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC8202055/

Utilization, Timing, and Outcomes of BRCA Genetic Testing ... Overall, for BRCA 1/2, 5.7% tested mutation-positive; 3.2% had a VUS, 84.9% were mutation-negative, and 6.2% reported not receiving results (most not meeting ...

2. blogs.cdc.gov blogs.cdc.gov/genomics/2023/07/25/persistent-underutilization/

Persistent Underutilization of BRCA Testing for Breast and ... The utilization of BRCA testing increased significantly over the study years (37% to 68% for breast cancer, 23% to 53% for ovarian cancer), with ...

3. cancer.gov cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

BRCA Gene Changes: Cancer Risk and Genetic Testing Testing for inherited changes in BRCA1 and BRCA2 can give several possible results: a positive result (a harmful change in the gene is present), ...

4. sciencedirect.com sciencedirect.com/science/article/pii/S2211335522000456

BRCA testing and testing results among women 18–65 ... The aim of this study was to assess trends in BRCA test rates and results among adult women aged 18 to 65 in the US between 2007 and 2017.

5. jamanetwork.com jamanetwork.com/journals/jamanetworkopen/fullarticle/2823637

Economic Evaluation of Population-Based BRCA1 and ... In this economic evaluation, population-based BRCA testing was cost-effective compared with FH-based testing in Canada from payer and societal perspectives.

6. mayoclinic.org mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815

BRCA gene test for breast and ovarian cancer risk Risks. There's no medical risk associated with the BRCA gene test or any other genetic test that looks for a risk of breast and ovarian cancers.

7. uspreventiveservicestaskforce.org uspreventiveservicestaskforce.org/uspstf/recommendation/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing

BRCA-Related Cancer: Risk Assessment, Genetic ... The USPSTF found adequate evidence that the benefits of risk assessment, genetic counseling, and genetic testing are small to none in women ...

8. ncbi.nlm.nih.gov ncbi.nlm.nih.gov/books/NBK1247/

BRCA1- and BRCA2-Associated Hereditary Breast and ... - NCBI BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer.

9. jamanetwork.com jamanetwork.com/journals/jama/fullarticle/2748515

Risk Assessment, Genetic Counseling, and ... The USPSTF has previously established that there is adequate evidence that current genetic tests can accurately detect known BRCA1/2 mutations.