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.
also raises questions about the use of sentinel node biopsy with prophylactic
mastectomies in high-risk women.
increased risk of developing breast cancer is already understood for women with
the disease who test positive for a BRCA1 or 2 mutation.
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
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
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.
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
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).
women already had known malignancies and had preoperative genetic testing.
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.
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.
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.
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.