About the Study:
The HVRI is a global family study for adults with a known variant in themselves or a family which are specific rare (potentially hypomorphic) variants in BRCA1 and BRCA2 and is focused on clarifying variant-specific risks. This is a collaboration research initiative between the Mary-Claire King Lab at the University of Washington and ICARE at Vanderbilt Health.
Other Advocacy/Professional groups involved in participant recruitment: FORCE, MyFaultyGene, NSGC-Cancer SIG
Goals: This study tracks rare BRCA1/2 variants to refine cancer risk estimates and screening strategies.
Participants: Adults worldwide (18+) with specific BRCA1/2 variants (Variant List) and their relatives.
Activities: Sign up with ConnectMyVariant and complete the screening to enroll remotely. Complete questionnaire, share pathology records, and submit blood/saliva sample for genetic testing. Optionally, connect with others to build family trees. Free genetic testing and counseling is available to at-risk family members.
Q & A:
- Sign up with ConnectMyVariant to learn more about this research opportunity and for the chance to be connected with others with your variant
- How to find your variant:To locate how to find your variant on your report- see these instructions.
- HVRI Variant List
- There are numerous hypomorphic variants. If you think your variant is a hypomorphic variant in the BRCA1 or BRCA2 gene and should be added to this list, please email Kathryn, our Research Project Manager at research@connectmyvariant.org . An internal review will be performed by the study team and the determination of study inclusion or exclusion will be updated to you.
- Please email Kathryn, our Research Project Manager at research@connectmyvariant.org