Jolie's Genes, Baffled Public

Angelina Jolie sought to raise awareness about genetics and breast cancer; did she succeed?

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Jolie's mother did NOT die

Jolie's mother did NOT die from breast cancer.. Her aunt did. Her mom died from ovarian cancer.

Which was caused by the same

Which was caused by the same faulty gene. In addition to the breast, the ovary also have to be removed, which she is probably going to do:

Maybe the public isn't

Maybe the public isn't confused about genetic testing, maybe they don't believe the hype. And they're not about to chop off body parts without more convincing evidence.

kph - is it a conspiracy? Are

kph - is it a conspiracy? Are doctors just mad enough to chop off body parts on the flimsiest of pretexts? From what dark cave did this evil slither forth?

It would benefit to get facts

It would benefit to get facts straight...individuals with BRCA1&/or 2 mutations have an increased risk over the general population to develop breast cancer and/or ovarian cancer. 1 in 40 if you are Ashkenasi Jewish decent (eastern Euorpean) 1-400 if non Ashkenasi. The mutation is inherited either from father or mother so family history on both sides is important. Those who are positive can reduce their risk back to general population risk by surgically removing breast tissue and having recontructive breast surgery ( which may women do today just f or asthetic reasons) and after having children removal of ovaries, doubt anyone is suggesting chopping off body parts. Also increased surveillance can help to diagnosis early in BRAC + patients if no surgery selected. Knowing and understanding has saved lives.

More specifically, lifetime

More specifically, lifetime breast cancer risk for women in the general american (or equivalent) population is about 12% or 1 in 8 (from National Cancer Institute web site). In contrast, lifetime breast cancer risk for carriers of definitive mutations in BRCA1 or BRCA2 is roughly 50% or 1 in 2.

Regarding ovarian cancer, the background population lifetime risk is much lower between 1-2%. But in BRCA mutation carriers, the risk is 40% for BRCA1 and 10-20% for BRCA2.

In other words, mutations in these particular genes hugely increase risk of disease, and often with an earlier age of onset as well.

The statistic given above for risk in Ashkenazi jews is the frequency of mutations in the population, NOT the risk of disease if you have a mutation; that risk is also high as with other mutation carriers. There is simply a founder effect increasing the total mutation frequency in the european jewish population.

It is still true that in most populations, the frequency of carriers of gene mutations is low, so these genes do not add so much to the total disease prevalence. But they do greatly increase risk for those (relatively rare) carriers. As usual with statistics, the details are important.

I'm not an MD, but it seems clear that aggressive treatment is probably necessary for most carriers of obvious mutations in the BRCA genes. Not necessarily surgery, there are other options. But ignoring the information carries a high risk of fatal disease.

Disclaimer: ex-employee of myriad