Another breast cancer gene; what you need to know

The NY Times just reported on a third gene that is common with those who have contracted breast cancer. The most well known ones are BRAC1 and BRAC2. The new gene, PALB2, can increase your risk for contracting the disease about 35%. While nobody really knows what triggers any of these genes, statistics show that those of us who have the gene are at higher risk.

The problem with risk is that it is a maybe, and the higher the maybe number, the more likely you may contract the disease. Now that a company can no longer patent genes, having the necessary genetic testing should be more affordable. Genetic testing is different than predicting who will have the disease. While genetic testing is the vehicle for finding out if you should be more closely monitored, it in no way says you are going to be affected by the gene. It does give people an additional “what if” to worry about and some people may make rash decisions such as prophylactic mastectomy which may further reduce risk, but has its own risks, side effects and does not protect you from having other health problems.

Last year, Angelina Jolie had decided to have a prophylactic mastectomy due to her being BRAC1 and BRAC2 positive and having others in her family who contracted the disease. Some of us depending on our way of thinking may decide to forgo any genetic testing, which depending on how you think, may or may not be a good thing. Since none of us can predict the future, the “what if” scenario can be quite painful emotionally for many of us. If you have others in your family who have these genes, it is more likely you have it, and if nobody in your family has it, it is more likely you do not, so this can also help you decide whether to undergo the test of pass on it.

Check out the NY Times article here

Study Shows Third Gene as Indicator for Breast Cancer

By NICHOLAS BAKALARAUG. 6, 2014

Mutations in a gene called PALB2 raise the risk of breast cancer in women by almost as much as mutations in BRCA1 and BRCA2, the infamous genes implicated in most inherited cases of the disease, a team of researchers reported Wednesday.

Previous data had indicated that mutations in PALB2 were linked to breast cancer, and many genetic tests already screen for them. But it had not been clear to what extent these mutations raised a carrier’s odds of developing the disease.

Dr. Marc Tischkowitz, an associate professor of medical genetics at the University of Cambridge, and his colleagues studied 362 members of 154 families with PALB2 mutations. None had BRCA1 or BRCA2 mutations, but all had at least one family member with breast cancer and a mutation in PALB2. There were 311 women with PALB2 mutations, of whom 229 had breast cancer, and 51 men with the mutation, of whom seven had the disease.

The results were published in The New England Journal of Medicine.

Over all, the researchers found, a PALB2 mutation carrier had a 35 percent chance of developing cancer by age 70. By comparison, women with BRCA1 mutations have a 50 percent to 70 percent chance of developing breast cancer by that age, and those with BRCA2 have a 40 percent to 60 percent chance.

The lifetime risk for breast cancer in the general population is about 12 percent.

The breast cancer risk for women younger than 40 with PALB2 mutation was eight to nine times as high as that of the general population. The risk was six to eight times as high among women 40 to 60 with these mutations, and five times as high among women older than 60.

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