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When Having BRCA Mutation Is Not So Bad or Even Better January 3, 2008

Posted by ramunas in BRCA, breast cancer, genetic testing, hereditary cancer, ovarian cancer.
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There are data accumulating, that having BRCA1/2 mutation from a clinical point of view is not worse that not having it and being affected by breast or ovarian cancer.

There was a study published in 2oo7 summer and discussed, which showed that women mortality from breast cancer is similar for carriers of a BRCA founder mutations and noncarriers (at least in Israeli).

And now, a new 2008 study found, that BRCA1/2 mutation even increases survival in ovarian cancer patients (Ashkenazi)- after 5-years, 46% of the carriers were still alive, compared with 34.4% of the noncarriers. This may be due to distinct clinical behavior and/or to a better response to chemotherapy. (ref.)

I think this is another pros for genetic testing with relaxed criteria (and definitely good news for a BRCA patients), since the main drawback of being BRCA mutation carrier is increased risk for an early breast/ovarian cancer compared with general population, and identifying of high risk patients before the disease strikes could prevent disease and improve survival.

However, I personaly think that present mutations detection fees are overpriced – and I believe that in a very near future there will be a dramatic decrease for all molecular genetic testing prices. A two approaches could be possible, IMHO, (i) a complex (sequencing of all coding regions/whole genome) and (ii) a simple – exploiting already existing technology more effectively and creatively in a cost effective way. I vote for a Simple Genetics 🙂

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1. Joe D - January 3, 2008

A while back I wrote about a hypothesis that may explain this finding. Though the loss of the DNA checkpoint/repair mechanims may mean that when a mutation in an oncogene/TSG arises it is less likely to be cleaned up, it means that the tumour cells are not taken out by apoptosis and therefore rapidly reach a point where size and nutrient constraints preclude further growth. Had the checkpoint mechanisms been working sufficiently to kill some but not all of the tumour cells it would take many more generations to reach saturation point, during which time they would be more likely to acquire mutations allowing them take over angiogenesis, evade the immune system or to metastasize.

2. ramunas - January 3, 2008

A very interesting hypothesis, Joe! Thank you.
Somehow the nature tries to ameliorate effect of these mutations for carriers.

3. BRCA Mutations Not So Bad After All? | Battling Cancer - January 4, 2008

[…] Yesterday, my friend Carey wrote a little bit about her family’s experience with BRCA genetic testing. Recently, I read a related article over at Ramunus’ excellent Cancer Genetics blog entitled, “When Having BRCA Mutation is Not So Bad or Even Better.” […]

4. brca1 mutation - June 24, 2009

Testing for BRCA1 and 2 mutations has been around a long time and should be a good indicator of whether genetic testing is making its way into regular medical practice.
Most women’s lifetime risk of breast cancer is about 13 percent, and the risk for ovarian cancer is less than 2 percent. But women with mutations in the BRCA1 or BRCA2 genes may be three to seven times more likely to develop breast cancer and nine to 30 times more likely to develop ovarian cancer than women with unaltered forms of the genes.


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