New Gene Mutation Raises Risk of Breast Cancer


Researchers found that a mutation in a new gene may result in a higher risk for breast cancer.

Women who have a mutation in a gene called PALB2 have a higher risk of developing breast cancer in their lifetime. A report published in the Aug. 7 issue of the New England Journal of Medicine found that the risk of breast cancer with this particular mutated gene is almost as high as in women who have mutations in the BRCA1 and BRCA2 genes. 

Researchers already knew that mutations in PALB2 were connected to breast cancer but did not know to what degree. In order to determine the extent to which these gene mutations raised a carrier's risk of developing breast cancer, researchers studied 362 members of 154 families that had PALB2 mutations in their genetic history but no BRCA1 or BRCA2 mutations. All of those studied had at least one family member with both breast cancer and the PALB2 mutation.

Of the 311 women with the mutation, 229 had breast cancer while seven of the 51 male carriers had breast cancer.

The study found that women younger than age 40 who have the PALB2 mutation were eight to nine times more likely to develop breast cancer. The risk was six to eight times higher in women who were between the ages of 40 and 60, and five times higher in those who were older than age 60.

Women with the PALB2 mutations are also at an increased risk of having triple negative breast cancer, a type of the disease that is more aggressive, resistant to hormone treatment and more likely to recur than other forms of breast cancer.

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