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Non-carriers of familial BRCA mutations at no increased risk for breast cancer
Kurian AW. J Clin Oncol. 2011;doi:10.1200/JCO.2010.34.4440.
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Women who have family members who carry the BRCA1 or BRCA2 mutation but do not have the mutation themselves are at no greater a risk for getting breast cancer than women who have relatives with breast cancer, according to the results of a population-based multinational study.
Although it is well established that BRCA mutations increase the risk for breast and ovarian cancer fivefold to 20-fold, there has been some debate in recent years whether non-carriers of family-specific BRCA mutations also were at increased risk.
To find out more about this potential risk, researchers sought to compare women who tested negative for family-specific BRCA mutations with the first-degree relatives of other people with breast cancer who tested negative for BRCA mutations.
The researchers studied 3,047 families from three centers in Australia, Canada and the United States. All participants were tested for BRCA mutations; 160 families had BRCA1 mutations and 132 had BRCA2 mutations.
Data indicated that non-carrier participants with family-specific BRCA mutations had no increased risk for breast cancer compared with the first-degree relatives from families without BRCA mutations (RR=0.39; 95% 0.04-3.81). However, all women with any type of familial breast cancer seem to be at increased risk for breast cancer, "suggesting substantial risk heterogeneity in women without BRCA1 and BRCA2 mutations," the researchers wrote.
"These results support the standard clinical practice of advising non-carriers that they do not have any increase in breast cancer risk attributable to the family-specific BRCA mutations and, in the absence of other strong risk factors, should follow general population guidelines for breast cancer screening," the researchers wrote.
This study by Kurian and colleagues examined the risk of family members of BRCA1 and BRCA2 mutation carriers who tested negative for the familial mutation. In contrast to some of the prior studies, this analysis did not find an elevated risk for breast cancer in noncarriers. This study has several advantages compared with prior studies - primarily the fact that it was population based derived from three international registries. Also, rather than comparing non-carriers with the general population ? who may not be undergoing as frequent surveillance, therefore introducing ascertainment bias ? they were compared with first-degree relatives of noncarriers enrolled in the registry. To date, this is the strongest evidence that family members of BRCA mutation carriers who are found not to harbor a mutation do not seem to be at elevated risk compared with the general population and therefore can undergo standard screening and follow-up.
– Debu Tripathy, MD
HemOnc
Today Editorial Board member
Disclosure: Dr. Tripathy reported no relevant financial disclosures.
Earn CME this spring at the HemOnc Today Breast Cancer Review & Perspective meeting to be held March 23-24, 2012 at the Hilton San Diego Bayfront. See details at HemOncTodayBreastCancer.com.
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