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Large Epidemiology Study Updates Breast Cancer Risk for Women Lacking Family History

Study findings published in the New England Journal of Medicine may allow health care providers to better assess the risk of breast cancer, in patients with no family history of breast cancer. 

Genetic testing of inherited breast cancer genes has typically focused on people at high risk who have a strong family history of breast cancer or patients diagnosed at an early age, according to Mayo Clinic pathologist Fergus Couch, PhD, who led the multi-institution study. 

Researchers conducted hereditary cancer genetic testing of 12 established breast cancer genes in over 32,000 women with breast cancer and over 32,500 women of similar ages without breast cancer from several large U.S. population-based studies. 

In the CARRIERS Consortium study, researchers were able to better identify how frequent mutations were among the various cancer genes and more accurately estimate the risk of developing breast cancer for women in the general population with mutations in those genes. 

"The risk of developing breast cancer is generally lower for women without a family history of the disease. When we looked at all women, we found that 30% of breast cancer mutations occurred in women who are not high-risk," Dr. Couch said. 

Dr Couch added that before the study, these women were not able to receive accurate estimates of their breast cancer risk. The findings were similar for white, Black and Hispanic women.  

Breast cancer clinics can now use the new risk estimates to offer more accurate risk assessments for women lacking a family history of breast cancer. 

The CARRIERS consortium is a group of 17 large epidemiology studies in the U.S. focused on women in the general population who develop breast cancer 


By MD /alert Staff 

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