Abstract
BackgroundBreast cancer (BC) detection in women with a genetic susceptibility or strong family history is considered mandatory compared with BC screening in the general population. However, screening modalities depend on the level of risk. Here we present an update of our screening programs based on risk classification.MethodsWe defined different risk categories and surveillance strategies to identify early BC in 1325 healthy women recruited by the Modena Study Group for familial breast and ovarian cancer. Four BC risk categories included BRCA1/2 carriers, increased, intermediate, and slightly increased risk. Women who developed BC from January 1, 1994, through December 31, 2005 (N = 44) were compared with the number of expected cases matched for age and period. BRCA1/2 carriers were identified by mutational analysis. Other risk groups were defined by different levels of family history for breast or ovarian cancer (OC). The standardized incidence ratio (SIR) was used to evaluate the observed and expected ratio among groups. All statistical tests were two-sided.ResultsAfter a median follow-up of 55 months, there was a statistically significant difference between observed and expected incidence [SIR = 4.9; 95% confidence interval (CI) = 1.6 to 7.6; p < 0.001]. The incidence observed among BRCA carriers (SIR = 20.3; 95% CI = 3.1 to 83.9; P < 0.001), women at increased (SIR = 4.5; 95% CI = 1.5 to 8.3; P < 0.001) or intermediate risk (SIR = 7.0, 95% CI = 2.0 to 17.1; P = 0.0018) was higher than expected, while the difference between observed and expected among women at slightly increased risk was not statistically significant (SIR = 2.4, 95% CI = 0.9 to 8.3; P = .74).ConclusionThe rate of cancers detected in women at high risk according to BRCA status or strong family history, as defined according to our operational criteria, was significantly higher than expected in an age-matched general population. However, we failed to identify a greater incidence of BC in the slightly increased risk group. These results support the effectiveness of the proposed program to identify and monitor individuals at high risk, whereas prospective trials are needed for women belonging to families with sporadic BC or OC.
Highlights
Breast cancer (BC) detection in women with a genetic susceptibility or strong family history is considered mandatory compared with BC screening in the general population
Prophylactic mastectomy is usually not proposed as the first choice for the management of women at high risk for developing BC, it has been demonstrated to be efficient in reducing the incidence of BC either in women belonging to families with familial [3] or hereditary BC [4,5]
Mammography remains the gold standard tecnique, the radiation risk, due to the fact that BRCA genes are implicated in DNA repair of double stranded breaks typically caused by ionizing radiation [14,15], and the diminished sensitivity in dense breasts, lead to evaluate the efficacy and safety of other imaging screening modalities for breast cancer, such as ultrasound and MRI
Summary
Breast cancer (BC) detection in women with a genetic susceptibility or strong family history is considered mandatory compared with BC screening in the general population. Depending on BRCA status or family history, management of women at increased risk for developing breast cancer has to be considered as an individual surveillance program. The most widely recommended strategy for BRCA carriers entails frequent, intense surveillance that begins at age 25 to 35 years. How to screen these patients is debatable. There is no consensus on the optimum modality and screening interval of women identified to be at moderate or high risk of breast cancer. Mammography remains the gold standard tecnique, the radiation risk, due to the fact that BRCA genes are implicated in DNA repair of double stranded breaks typically caused by ionizing radiation [14,15], and the diminished sensitivity in dense breasts, lead to evaluate the efficacy and safety of other imaging screening modalities for breast cancer, such as ultrasound and MRI. Considering MRI, two retrospective [19,20] and five prospective studies [21,22,23,24,25] have suggested that this imaging technique is useful in screening high risk women
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