Fill Out Your Profile to share more about you. Learn more...

Origins of Genetic Mutation


If you are a known carrier of BRCA 1/2 pathogenetic mutation, have you tried to research the origin of your mutation? I have IVS5-11T>G / c.213-11T>G

Any advice welcome.


  • vlnrph
    vlnrph Member Posts: 493

    When I learned of a non-BRCA mutation in our forebears, I began a genealogy quest to see who had BC in the past. Remember that men can be carriers and pass a genetic defect on to their children even though they personally are not affected clinically. Occasionally you may have to request a death certificate which shows why an individual died.

    If someone has already constructed an accurate tree, your work to verify names going back in time might be easier. Our local public library allowed home use of paid subscriptions such as Ancestry during the pandemic however I prefer the free Mormon website FamilySearch. FindAGrave can also be a resource but original records should still be located.

    As an aside, I found it curious to observe mothers who had a number of stillbirths or infants who only lived for hours/days (that were not premies). Since I’m Rh negative and my husband positive, we could have experienced similar losses except for my getting a RhoGAM injection. I wonder whether those ladies from long ago had the same blood incompatibilities…