24 mutations-risk levels assigned for breast & ovarian cancer

besa

"Genetic tests help identify relative risk of 25 cancer-associated mutations"

"Researchers assigned levels of risk to 25 mutations associated with breast and ovarian cancer in a large, Stanford-led study. The results may be helpful in guiding treatment and screening recommendations"

http://ascopubs.org/doi/full/10.1200/PO.16.00066

http://med.stanford.edu/news/all-news/2017/06/genetic-tests-help-identify-relative-risk-of-25-cancer-mutations.html

"This large sample size provided a reliable data set on real people," said Hall. "This is a significant advantage as we work to identify the strength of association between mutation and risk."

In many cases the researchers' findings dovetailed with what had already been surmised from smaller studies. But there were some surprises. One mutation assumed to increase a woman's risk of breast cancer was shown to instead increase the likelihood of ovarian cancer. Three other mutations thought to increase the risk of breast cancer seem instead to have little effect.

"One surprising finding was the association of an increased ovarian cancer risk with mutations in a gene called ATM," said Kurian. "Although this risk was relatively small numerically, it was statistically significant, and to our knowledge it had not previously been published. Additional studies will be important to determine the robustness and clinical relevance of this finding, and to expand the evidence base that we use to counsel our patients."

Hopeful82014

Thanks, Besa. I'll bet I'm not the only one who'd missed this article, which is VERY helpful and timely. I really appreciate your sharp eye.

ETA: For anyone else reading this: the ASCO article contains the most useful info. I found it easier to access the tables by opening it in PDF format rather than just clicking the links.

Moderators

Hi all!

See Breastcancer.org's take on this study, for an easy-to-understand version:

Study Estimates Relative Risk of Breast and Ovarian Cancer for 25 Genetic Mutations
June 29, 2017
A study has taken the first step in estimating the relative risk associated with 25 genetic mutations linked to breast and ovarian cancer. Read more...