Diagnosis Comes Earlier for Breast Cancer Patients With BRCA Gene

Women with the BRCA gene mutation are diagnosed with breast cancer approximately 8 years earlier than relatives of the previous generation who also had breast and/or ovarian cancer, according to new research from The University of Texas MD Anderson Cancer Center.

The findings, published online in Cancer, could have an effect on how women with the highest breast cancer risk are counseled and even screened in the future, explained Jennifer Litton, MD, assistant professor in MD Anderson’s Department of Breast Medical Oncology.

Estimates show that 5% to 10% of all breast cancers are associated with either the BRCA1 or BRCA2 mutation, both of which are related to an increased risk for breast and ovarian cancers. In fact, women with the BRCA1 or BRCA2 mutation have a 60% lifetime risk of developing breast cancer, compared to a 12% risk for women in the general population, according to the American Cancer Society (ACS).

Therefore, beginning at age 25, women with known BRCA mutations and/or those whose relatives from either side of the family have the mutation are screened. Since MRI is thought to detect smaller tumors even earlier, the ACS guidelines in 2007 added MRI as a complement to mammography in the observation of these women at highest risk. The option of prophylactic mastectomies is also a factor of their surveillance, said Litton.

For the retrospective study, 132 BRCA-positive women with breast cancer were identified. After reviewing each woman’s pedigree, it was discovered that 106 patients had a female family member in the previous generation who also had either a breast or ovarian BRCA-related cancer. For both the older (gen1) and younger (gen2) women, age at diagnosis, mutation location, and birth year were recorded.

Researchers found that in gen2, the median age of diagnosis was 42 years, compared to 48 years in gen1. Furthermore, the median difference was 6 years when comparing generations within a family. Researchers went further and used new mathematical models to evaluate for anticipation. In doing so, they found the difference in age between generations was 7.9 years.

“Currently, BRCA positive women are counseled to start screening by 25 years, or five to ten years earlier than their youngest affected family member. However, our findings show that we may need to continue to follow these trends with future generations, and make changes accordingly in order to best advise and care for women at greatest risk,” Litton said.

Source: The University of Texas MD Anderson Cancer Center.