Who wants a lifetime risk of 65-90% of developing breast cancer? Not Angelina (and others)

"Since I trained as a research biologist, I have known for a long time the implication for my own health of having a mother, maternal grandmother and great-aunt who died following diagnoses of breast cancer in their 40s and 50s. I was just making the transition from working in a lab to working in science publishing when the BRCA1 gene was cloned, and I continued to make the non-decision not to find out my own mutation status as BRCA2 was also cloned and as certain mutations in BRCA1 and BRCA2 were found to be prevalent in people of Ashkenazi Jewish descent (as I am).

http://blogs.plos.org/biologue/2013/09/24/a-dispatch-from-the-genetic-frontier/

But as my age crept closer to the age my mother was when diagnosed, I thought some more. I read the fascinating and well-researched book ‘Blood Matters: A Journey Along the Genetic Frontier’ by Masha Gessen, in which she took a similar decision to Jolie’s. I read research articles where I could get access to them – and incidentally increased my zeal for open access when they were hidden behind a subscription pay-wall. I spoke to friends and family. And finally I requested a referral from my general practitioner to a clinical geneticist who in due course asked for my family tree and medical history and then walked me through the implications.
He told me some harsh probabilities:

• ‘Anywoman’ in the UK:

has a 1 in 9 lifetime chance of developing breast cancer.

• With my family history:

make that 1 in 3.

• Add in Ashkenazi descent:

extremely likely to be due to one of the small handful of mutations in BRCA1 or BRCA2 known to be specifically associated with this population.

• And if you do have a BRCA1/2 mutation:

a lifetime risk of 65-90% of developing breast cancer. And add in a significant risk of ovarian cancer, which is much harder to screen for or diagnose early."

The Actress, the Court & What Needs to Be Done to Guarantee the Future of Clinical Genomics, @ArthurCaplan http://t.co/MMdVmcWdTS #ethics
— Liza Gross (@lizabio) September 24, 2013

The Actress,the Court and Clinical #Genomics; A Dispatch from the Genomics Frontier http://t.co/sjHG9vS9v5 +http://t.co/pDP27tdv95 Well done
— Eric Topol (@EricTopol) September 25, 2013

http://www.plosbiology.org
@PLOSBiology