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Another Gene Mutation Linked To Higher Breast Cancer Risk

A new study suggests people with mutations in the gene PALB2 are more likely to develop breast cancer than those without the mutation.
Posted at 3:06 PM, Aug 07, 2014

We know family history is a major indicator of breast cancer risk and that early detection is crucial to survival. Now, researchers have singled out a specific gene mutation that is linked to a high risk.

And that discovery could lead to earlier diagnoses​ and even save lives, as the study published in TheNew England Journal of Medicine pointed out. It found women with mutations in one of their genes have about a 1 in 3 chance of developing breast cancer by 70. 

The study analyzed 154 families with a history of breast cancer and found that women who carried rare mutations in their PALB2 gene had a 35 percent chance of developing the disease.

PALB2 is a gene that is crucial to proper cell growth and division in the body. 

Leader of the study Marc Tischkowitz says: "Now that we have identified this gene, we are in a position to provide genetic counselling and advice. If a woman is found to carry this mutation, we would recommend additional surveillance, such as MRI breast screening."

The study's authors recommend that women with this mutation talk to their doctors about the possibility of having a mastectomy to reduce their risk. The article notes the surgery cuts back on the risk by 90 percent. 

Actress Angelina Jolie underwent a preventative double mastectomy in 2013 because she carried a different mutated gene that gave her a high risk of developing breast cancer. 

Jolie's mutation was of the BRCA1 gene, another gene that helps controls cell growth and division.

And a Miss America contestant also made headlines for deciding to undergo a double mastectomy last year because of her family history with breast cancer. 

Around 1 in every 1,000 women has a PALB2 gene mutation. 

This video includes images from Getty Images and the National Cancer Institute.