Family Study for People with Certain Rare BRCA1 or BRCA2 Variants

About the Study

Researchers are studying certain rare variants in the BRCA1 and BRCA2 genes that may affect cancer risk differently than more common harmful variants in BRCA1 and BRCA2. The goal is to learn more about the cancer risks associated with these specific variants and help improve recommendations for cancer screening and prevention. To learn more about the study and start the eligibility process, sign up with ConnectMyVariant.

What the Study Involves

Participants will complete a medical history questionnaire and provide information about their family history. People who have had cancer may be asked to share pathology records. Participants will also provide a blood or saliva sample for genetic testing.

The first person enrolled from a family will provide a blood sample. Additional family members may provide a saliva sample.

Participants will meet remotely with a genetic counselor to discuss their genetic test results. Family members who may be at risk for the variant, with or without previous genetic testing, are eligible for free genetic testing and genetic counseling.

Participants who carry a variant being studied have the option to connect with other families who share the same variant, to help researchers clarify variant-specific information and ancestry.

Participation: All study activities can be completed remotely, and no travel is required. Participation is expected to take approximately 2–10 hours in total.

Cost: There is no cost to participate. Study-related genetic testing and counseling are provided at no cost and are not billed to insurance.

Learn More and Enroll: Participants can begin the enrollment process by signing up through ConnectMyVariant

Study Locations:

Global study with online enrollment: (REMOTE) https://connectmyvariant.org/signup-form/hvri/

IRB Site:
State: Washington
City: Seattle
Facility: University of Washington, King Laboratory

Coordinator Contact:
Kathryn Mraz, MS, CGC
Email: [email protected]

Lead Researchers/Study PIs and Affiliation:
 

Lead Research/Study PI:
Brian Shirts, MD, PhD
ConnectMyVariant

Co-Is:
Mary-Claire King, PhD
King Laboratory - University of Washington

Tuya Pal, MD
Vanderbilt University

You may be eligible to participate if you:

• Are age 18 years or older.
• Have one of the specific BRCA1 or BRCA2 variants included in this study, or have a family member with one of these variants (Variant List).
• Are willing to sign a consent form and complete a medical and family history questionnaire.
• Are willing to submit a blood or saliva sample for genetic testing.
• Are willing to share pathology records if you have previously been diagnosed with cancer.
• Are willing to share records of prior genetic testing results (if applicable).
• Are willing to provide family tree and family history related to their variant.
   

A blood sample from at least one family member is required to confirm the variant being studied. Families may not be eligible if no family member is willing to provide a blood sample.

NOTE: Only certain rare BRCA1 and BRCA2 variants are included in this study. See the study’s list of eligible variants. (link HERE )

You may not be eligible to participate if you:

• Are younger than 18 years old.
• Do not have one of the specific BRCA1 or BRCA2 variants being studied and do not have a family member with one of these variants. To see a list of variants for this study, click HERE.
• Are unwilling or unable to sign a consent and/or to complete the required medical and family history questionnaire.
• Are unwilling or unable to provide a blood or saliva sample for genetic testing.
• Are unwilling or unable to provide requested genetic testing or pathology records, if applicable.