ICARE is partnering with ConnectMyVariant, to work on a project to better predict cancer risks for BRCA1 and BRCA2 carriers.
Why This Initiative Matters
Traditional risk estimates often group all mutations together. However, there are specific BRCA1 and BRCA2 mutations that may actually be lower risk than what we usually think of. Through having more family members tested, we can get much needed information to better predict risks for these mutations.
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Benefits of Participating
Your participation in this ConnectMyVariant initiative can:
- Lead to more precise cancer risk estimates based on your specific mutation
- Allow eligible family members to receive free genetic testing and have an option for free ancestry testing
Who Can Participate?
This initiative is designed for:
- Individuals willing to help advance research by connecting relatives for optional testing
- Individuals with specific BRCA1 or BRCA2 mutations:
BRCA1 Mutations of Interest
c.134+2T>A
c.212G>C
c.302-2A>C
c.316+5G>A
c.441+1G>A
c.441+2T>A
c.4868C>G
c.4987-4T>G
c.4987-1352A>G
c.5056C>T, p.H1686D
c.5095C>T, p.R1699W
c.5096G>A, p.R1699Q
c.5107T>G, p.Y1703D
c.5117G>A, p.G1706E
c.5123C>A, p.A1708E
c.5152+1G>C
c.5194-12G>A
c.5278-1G>A
c.5363G>T, p.G1788V
c.5407-25T>A
c.671-1delins6
c.671-1G>A
c.671-1G>C
c.671-1G>T
c.671-2A>G
c.671-2A>T
c.78_79ins6, p.26_27insHL
BRCA2 Mutations of Interest
c.229A>G, p.Thr77Ala
c.316+1G>A
c.475+4delT
c.5350_5351del, p.Asn1784fs
c.7522G>A, p.Gly2508Ser
c.7766C>A, p.P2589H
c.7820C>T, p.T2607I
c.7878G>C, p.W2628C
c.7878G>T, p.Trp2626Cys
c.7879A>T
c.7958T>C, p.L2653P
c.7976G>A
c.7982A>T, p.D2661V
c.7988A>T
c.7992T>A
c.8162T>A, p.L2721H
c.8167G>C, p.D2723H
c.8168A>G
c.8331+2T>C
c.8331+3A>C
c.8332-9T>G
c.8350C>T, p.R2784W
c.8393C>G, p.P2798R
c.8444C>A
c.8471G>A, p.R2824K
c.8487+3A>G
c.8488-1G>A
c.8488-1G>T
c.8632+1G>A
c.8754+4A>G
c.8864-21del26
c.9104A>C, p.Tyr3035Ser
c.9302T>G, p.Leu3101Arg
c.9501+3A>T
c.9672dup, p.Tyr3225fs
c.9699_9702del, p.Cys3233fs
How to Participate
Complete a short online registration form using the below link or QR code: https://connectmyvariant.org/signup-form/icare
More About ConnectMyVariant
ConnectMyVariant is an educational nonprofit organization that:
- An educational nonprofit organization that aims to support families affected by hereditary disease.
- Connects you with others who have the same genetic variant. People who have the same variant have a 90% chance of inheriting it from a common ancestor.
- Provides free family outreach navigators to help you use social and family connections to find and communicate with relatives about genetic testing and cancer prevention.
- Provides free genealogy assistance to help people find relationships or to help people who are adopted find biological relatives.
Questions about ConnectMyVariant?
Email: info@connectmyvariant.org
Questions about ICARE?
Phone: 615-875-2444
Email: ICARE@vumc.org
