BRCA1 E1250X (3867G>T)

cb123

Just putting it out there. I got these results this morning.

I googled it and came up with tons of info. Wading through the info to see what might be pertinent to my adjuvant care. I'll share here if I find useful things. There are so many different mutations and this one pops up in long lists often.

The results I received specific to BRCA1 E1250X (3867G>T) Here's the results:

cb123

Hard to read and I was so tired when I posted, the crux of this finding is:

The results of this analysis are consistent with the germline BRCA1 mutation E1250X, resulting in premature truncation of the BRCA1 protein at amino acid position 1250.

Although the exact risk of breast and ovarian cancer conferred by this specimen has not been determined, studies in high risk families indicate hat deleterious mutations in BRCA1 may confer as much as an 87% risk of breast cancer and a 44% risk of ovarian cancer by age 70 in women.

Mutations in BRCA1 have been reported to confer a 20% risk of a second breast cancer within five years of the first, as well as a ten-fold increase in the risk of subsequent ovarian cancer.

This mutation may also confer an increased (albeit low) risk of male breast cancer, as well as some other cancers.

Each first degree relative of this individual has a 1 in 2 chance of having this mutation. Family members can be tested for this specific mutation with a single site analysis.