The Numbers Game

17Dec09

So I forgot to mention on my previous article that the study assumes the low ends of the BRCA1/BRCA2 risk range in its simulations. Is this fair? [Edit: Actually the study does simulations assuming risks from 40-85%.] Most of us facing the risk seem to just remember the high end. Ever since seeing the Myraid lab report of my mother’s, I have been thinking “nearly 90%” (it’s actually 84%). In fact, that is only the worse-possible risk found so far in the research. Others estimate a much lower risk.

A blog post on the New York Times reviews a study that suggest the risks for BRCA carriers are highly variable. First, the study founds the overall risk of cancer before 70 for BRCA carriers is lower than you might think: 36-52%. Furthermore, the difference in the risk is related to when your relatives were diagnosed. If they were younger than 35, the risk is on the higher end (52%) and if they were over 45 then the risk is on the lower end (36%). But like any studies, it has it’s drawbacks. The sample of BRCA positive women was rather small (n=73), so it may not generalize well to the whole population of carriers. [See JAMA for the full study]

Like all research I read, I immediately try to calculate if it’s good or bad news for me. Well, my immediate family members have all been diagnosed between 46-50 years old. So it should be good news, but I know there are other more distant family members with the same mutation who were diagnosed much earlier. Can I chalk that up to the unique genetics (besides the BRCA mutation) they had on that side of the family? Maybe they had mutations in other tumor suppressor genes? What are the effects of have BRCA mutations plus other high-risk mutations?

What about the specific effects of our family’s mutation? Since finding out about the Ovarian Cancer Cluster Region in BRCA2, I have been obsessed with getting more information on my family’s particular mutation. (Unfortunately, it relatively rare and I have already exhausted all of the major search engine links I could find.) We know that the risks of BRCA1 and BRCA2 are not the same, but do carriers know that even the position of their mutation within BRCA2 also changes their risks? More on this later…dit

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