Odds of breast cancer increase with rare gene mutation

Women who have a rare gene mutation are more susceptible to breast cancer risk per a new study entitled "Breast-Cancer Risk in Families with Mutations in PALB2."

For the purpose of the study, the researchers analyzed data procured from 154 families who did not have BRCA1 or BRCA2 mutations. The families surveyed included 362 members who had the PALB2 gene mutation. However, the risk of individuals contracting breast cancer was also dependent on the family history of the disease. Women whose relatives had breast cancer were at a higher risk of getting breast cancer.

The research suggests that women who have mutations in the gene PALB2 have a one in three or 35 percent chance of getting breast cancer by the time they are 70 years old, when compared to women who do not have this gene mutation.

PALB 2 is considered to be nearly as risky as BRCA1 or BRCA2 mutations, which are widely known as breast cancer genes.

By comparison, the chances of women who have the BRCA1 mutations developing breast cancer by the same age is 50 percent to 70 percent. Women who have the BRCA2 mutations have 40 to 60 percent risk by the same age.

The study also suggests that women with the PALB2 mutations were likely to be more prone to "triple negative" breast cancer. This type of breast cancer is aggressive and is unaffected by hormone treatment. The chances of this type of breast cancer relapsing is higher as well when compared to other subtypes.

"The PALB2 gene was first identified in 2006 and linked to breast cancer in 2007," noted lead author of the study Dr. Marc Tischkowitz, a lecturer in cancer genetics at the University of Cambridge School of Clinical Medicine in Cambridge, England. "But until now, we have not had good breast cancer risk estimates for women who have inherited PALB2 mutations."

Dr. Tischkowitz also added that since the gene was identified, they were now able to offer genetic counseling, as well as advice. For instance, if it was diagnosed that a woman was carrying the mutation, then the doctors could suggest MRI breast screening.

According to the World Health Organization (WHO), over 508,000 women were estimated to be killed as a result of breast cancer in 2011. It is the most common form of cancer in women all over the world.

The study has been published in the New England Journal of Medicine on Wednesday, Aug. 6.

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