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PALB2 Mutations and Risk

Posted 9/8/2014

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  We are all familiar with the BRCA1 and BRCA2 genes and their impact on a woman's risk of developing breast and/or ovarian cancer. We also all have known that, as science goes forward, it was likely that other genes would be identified that also increase risk of these diseases. I have known a number of women from families with very powerful breast/ovarian cancer histories who have tested negative for the BRCA genes. Those women have been quite convinced, however, that there is something going on in their families that can't yet be identified.

  The PALB2 gene works with the BRCA genes to help repair damaged cells. For some time, researchers have thought that a mutation in this gene was a moderate risk marker for breast cancer. A recent study has found that a mutation of the PALB2 gene carries almost the same level of risk as the better known BRCA genes. What this means for you is that, if you have been tested for BRCA and were negative, and if you have a powerful family history, it is worth asking whether your testing included this gene. If not, you might talk with your doctor or genetic counselor about another blood test.

  Here is a helpful article from Living Beyond Breast Cancer. I give you the start and a link to read more:

Study Suggests PALB2 Mutations Greatly Increase Chance of Getting Breast Cancer


Researchers found that harmful mutations on this gene pose risks similar to those of BRCA mutations

People who have a family history of breast cancer often get genetic testing, which gives them more information about their inherited risk of the disease. Doctors know a lot about genes called BRCA1 and BRCA2. These genes help repair damaged cells. When certain mutations, changes in the makeup of a cell, appear on these genes, it can greatly increase a person’s risk of getting breast cancer. In an LBBC webinar, Dr. Jennifer R. Klemp said women with BRCA mutations can have a 45 to 85 percent chance of getting breast cancer by age 70. The risk in the general population is about 12 percent.

Harmful mutations on other genes can also increase the risk of getting breast cancer, but doctors don’t know as much about them. Because of that lack of knowledge, doctors don’t often test for those gene mutations, because they don’t know how the test results would affect a person’s treatment or risk of disease.

One of these other genes is called PALB2. It works with the BRCA genes to repair damaged cells. Past studies have found that PALB2 mutations increase a person’s risk of breast cancer by two to four times, compared to people who don’t have a mutation. That would make it a moderate-risk gene mutation, as opposed to BRCA, which is a high-risk gene mutation. These researchers wanted to learn more.

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