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Question: A cancer survival organization associated with my hospital/clinic recommended I do genetic testing (BRCA1 and BRCA2). I was thinking this makes sense only in terms of potential threat of breast cancer for other family members (e.g. nieces). The following abstract seems to say more. Does that mean the testing would reflect risk for me as well?

Melanie (So much to learn!)

Here is the abstract:

Abstract Number:

3035
Session Title:

Candidate Risk Genes: Melanoma, Hereditary Cancer Syndromes, and Rare and Childhood Cancers
Presentation Title:

BRCA2 mutation status affects long term breast cancer specific survival
Presentation Start/End Time:

Tuesday, Apr 21, 2009, 8:00 AM -12:00 PM
Location:

Hall B-F, Poster Section 4
Poster Section:

4
Poster Board Number:

4
Author Block:

Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, Heli Nevanlinna. Helsinki University Central Hospital, Helsinki, Finland
Mutations in the two high penetrance breast cancer predisposing genes, BRCA1 and BRCA2 are estimated to cause approximately 15% of familial predisposition to breast cancer. BRCA1 mutations confer approximately 57% average risk of developing breast cancer and 40% risk of ovarian cancer by the age of 70 years, and BRCA2 mutations 49% risk of breast cancer and 18% risk for ovarian cancer. Carriers of inactivating germline mutations in these genes develop tumors of particular phenotypes, and their age of onset of the disease is also considerably lower than among other breast cancer patients. However, the prognostic effects of these mutations have been unclear. We investigated the long term survival among BRCA1 and BRCA2 mutation carriers by comparing their outcome to survival of other breast cancer patients (n=2178). We found a significantly worse 10 year breast cancer specific survival among BRCA2 mutation carriers in univariate Cox’s regression analyses (HR 2.34, 95% CI 1.50-3.66, p=0.002, n=68), but no such significant effect of BRCA1 mutation on prognosis (HR 1.67, 95% CI 0.99-2.82, p=0.0546, n=67). BRCA2 mutation associated strongly with negative HER2 status of the tumors and the effect of BRCA2 mutation on survival was even stronger among patients showing no HER2 over expression/amplification (HR 3.75, 95% CI 2.18-6.45, p<0.0001, n=38), a group that in general has a more favorable prognosis. Cumulative breast cancer specific survival rates at 10 years for sporadic, familial, BRCA1 carrier and BRCA2 carrier patients were 83.8%, 84.1%, 76.0% and 63.7% respectively, and when stratified by negative HER2 status 84.8%, 86.7%, 82.0% and 55.3% respectively. Carrying a BRCA2 mutation was also an independent prognostic marker in multivariate analyses along with conventional prognostic factors. The prognostic effect of BRCA2 mutation became noticeable mainly after five years of follow-up and our results suggest a more significant impact of BRCA2 mutation on long term breast cancer survival than previously found.