No BRCA Mutations Means High Risk for Breast Cancer Recurrence

A new study has suggested that women who are at a high risk for breast cancer have a greater chance of recurrence if they do not have BRCA 1 and 2 mutations.

The finding also raises questions about the use of sentinel node biopsy with prophylactic mastectomies in high-risk women.

The increased risk of developing breast cancer is already understood for women with the disease who test positive for a BRCA1 or 2 mutation.

Many of these women opt to have their breast surgically removed (prophylactic mastectomy) to cut their risk of developing breast cancer or developing a second breast cancer. The role of sentinel node biopsy remains controversial in this group.

"We know more about counselling women regarding prophylactic mastectomy if they have a BRCA mutation," said lead author Shawna C. Willey, MD, FACS, a member of the Breast Cancer Program at the Lombardi Comprehensive Cancer Center and director of the Betty Lou Ourisman Breast Health Center at Georgetown University Hospital.

"In high-risk women who have cancer but don’t have a known mutation, we generally advise that the risk of developing a second cancer in the same or opposite breast is lower than it is for women who test positive for a mutation. This latest analysis has us re-thinking our approach," Willey added.

The study recruited women in a familial cancer registry at Lombardi who were enrolled between 1998 and 2007. The registry participants had at least a 10 percent probability of carrying a BRCA1/2 mutation based on personal or family history of cancer.

The cohort for the study involved 119 women. 74 women had a BRCA mutation (group 1) and 45 did not test positive for the mutation (group 2).

In-group 2, women already had known malignancies and had preoperative genetic testing.

All the women opted to have a mastectomy to remove their affected breast (group 2) or surgery to remove both breasts (both groups). They all had both breasts removed, but in Group 2 they all had a unilateral prophylactic mastectomy.

"We examined the rate of occult malignancies in both these groups of women in the prophylactic mastectomy specimens. What we found was interesting. There was a higher than expected presence of disease in the women who did not test positive for a BRCA mutation,” Willey said.

"The higher rate of occult cancers in group 2 may be because they all had contralateral known malignancies, but this study supports the use of prophylactic mastectomy as an option for these women as it is for those who have a BRCA mutation," Willey added.

Willey said that further studies should address the role of sentinel node biopsy for high-risk women who are receiving prophylactic mastectomy.

The study was presented at the American Society of Breast Surgeons’s annual meeting in New York City.

Source-ANI
RAS/L