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Breast cancer diagnosed earlier for women with BRCA gene

Kathleen Blanchard's picture

University of Texas MD Anderson Cancer Center researchers say women who possess the high risk BRCA gene for breast cancer are being diagnosed with breast cancer earlier, compared to past generations. The BRCA gene places women at high risk for breast cancer and ovarian cancer. The high risk gene is now linked to diagnosis of breast cancer six years earlier than previous generations of women.

Lead study author Jennifer Litton, M.D., assistant professor in M. D. Anderson's Department of Breast Medical Oncology says, "In our practice, we've noticed that women with a known deleterious BRCA gene mutation are being diagnosed earlier with the disease than their moms or aunts. With this study, we looked at women who had been both treated and had their BRCA testing at M. D. Anderson to determine if what we were seeing anecdotally was consistent scientifically."

The findings show that women whose aunts or mothers have had breast cancer associated with BRCA gene mutation can greatly benefit from earlier diagnosis of breast cancer through genetic screening and ongoing monitoring. In some cases, women opt for prophylactic mastectomy when the high risk breast cancer BRCA1 or 2 gene is present. The study also raises questions about what might be contributing to the earlier diagnosis of breast cancer in high risk women.

In the study, researchers identified 132 BRCA positive women with breast cancer, finding that 107 of the women had a female family member in the previous generation who also had either breast or ovarian cancer related to the high risk BRCA gene.

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Women with the BRCA2 gene mutation were diagnosed with breast cancer at age 42, and those with BRCA1 gene were diagnosed on average at age 47. The fact that women with the gene 2 mutation were diagnosed six years earlier than previous generations is also cause of concern.

"These findings are certainly concerning and could have implications on the screening and genetic counseling of these women," Litton said. "In BRCA positive women with breast cancer, we actually might be seeing true anticipation - the phenotype or cancer coming out earlier per generation. This suggests more than the mutation could be involved, perhaps lifestyle and environmental factors are also coming into play."

Dr. Litton plans to look at the reasons for earlier diagnosis of breast cancer among women with the BRCA gene mutation.

It could be that MRI screening is responsible for earlier diagnosis of breast cancer in women with the BRCA gene. The findings could lead to changes in breast cancer counseling and screening in women, if environmental and lifestyle factors are found to be a variable for the earlier diagnosis of breast cancer in high risk women. The concern that needs more study is that the BRCA gene may be mutating earlier, causing breast cancer at a younger age.

Reference: MD Anderson Newsroom

This page is updated on May 11, 2013.