Scientists uncover new genetic link to breast cancer. Are you at risk?

A Personalized Healthcare post on 12/30/2014.   Topics:  ,

Genetic link to breast cancer

By the end of 2014, doctors in the U.S. will have diagnosed more than 232,000 new cases of breast cancer. For some women, this disease has a strong link to mutations in the BRCA genes. Now, a study published a few months ago in the New England Journal of Medicine uncovered a possible new relationship between breast cancer and mutations in another gene.

Understanding these genetic relationships will not only make you more aware of lifestyle-related cancer risk factors, but may also guide your doctors’ treatment recommendations if you are diagnosed with breast cancer. More effective treatments may result in better outcomes and fewer side effects.

What do we know so far about breast cancer and genes?
Based on what doctors have observed over the years about breast cancer and ovarian cancer, there is strong evidence that families in which more than one woman is diagnosed with one of these malignant diseases carry genetic mutations that may make members susceptible. These mutations are rare in the general population as a whole and only account for, at the most, 10 percent of cases of breast and ovarian cancer.

There are several signs that breast cancer may be hereditary within a family:

  • More than one relative has been diagnosed
  • Individuals who do develop cancer are diagnosed at an age younger than typical cancer patients
  • One person has been diagnosed with more than one type of primary cancer
  • Breast cancer has been diagnosed in males

Mutations to several genes have been linked to breast cancer, with BRCA1 and BRCA2 mutations being among the most well known. Meanwhile, scientists continue to search for more.

Defects in PALB2 elevate risk up to 9 times
One gene that researchers have been exploring is PALB2, which past studies have linked to the likelihood of breast cancer. What had not been known up to now was the immensity of the impact. To get a better idea, the authors of the new study reviewed medical data collected from 362 people, all of whom came from 154 families that had mutations in the PALB2 gene.

Results showed that, at younger than 40 years of age, women with PALB2 mutations were between eight and nine times more likely to develop breast cancer when compared to the general population. At ages 40 to 60, that risk increase is six to eight times higher, and past 60 years, it is five times higher.

By the age of 70, a woman who carries a PALB2 mutation has a 33 percent lifetime risk of developing breast cancer if no one else in her family has been diagnosed with the disease. If another relative does have breast cancer, that lifetime risk is 58 percent.

Personalized healthcare can help you understand and manage your risk
As genetic links to an increased risk of cancer are discovered, taking a personalized approach to risk management that includes genetic testing can help you understand and manage your risk more effectively. Being connected to a health advisor ensures that you are always connected to healthcare providers and evidence-based research that can help you develop a personalized healthcare plan that addresses your specific risk factors.


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