The results of this analysis are consistent with the germline BRCA2 mutation 2378delG, resulting in premature truncation of the BRCA2 protein at amino acid position 729. Although the exact risk of breast and ovarian cancer conferred by this specific mutation has not been determined, studies of this type of mutation in high-risk families indicate that deleterious mutations in BRCA2 may confer as much as an 84% risk of breast cancer and a 27% risk of ovarian cancer by age 70 in women (Am. J. Hum. Genet. 62:676-689, 1998).
I just can't get over that I had an 84% chance of getting breast cancer. This doesn't really impact the treatment of my breast cancer, although I'll be going in to talk to Dr. Z (the surgeon not the oncologist) about dealing with the risk of ovarian cancer.
Darn. I wish this BRCA stuff didn't apply to you. But I guess the good thing is being forewarned about the 27% risk, and being able to talk about dealing with it in advance. Also, other women in your family are now aware of their added risks, as well.
ReplyDeleteHealing thoughts and prayers coming your
way -- Alice xoxo
84 !$#@! percent - interesting but better to read in a mag article than in a rpt to you. It's now warrior Eileen against that BRCA2 mutation and its evil spawn. I'm thinking a hat with horns a la Brunhilda.... Fighting and praying on your team, Sheila
ReplyDeleteWish you'd been screened much earlier.....
ReplyDelete