Abstract
Risk estimation tools can be used in clinical practice to promote the counseling, prevention, or increase the surveillance against breast cancer development. The present study aimed to estimate the risk for breast cancer and the odds for BRCA1/2 mutations, and to correlate the values found by the different models. Breast cancer risk was determined by the models of Gail, Claus, BRCAPRO and Boadicea; and for the mutations, Myriad II, Penn II BRCAPRO, and Boadicea models were utilized, in women who have or had the disease (n = 16) and their respective first degree female relatives unaffected (n = 25). Considering non affected women 16% were categorized as high risk for breast cancer development in five years by the Gail model, and all values presented significant correlation among the models (p < 0.05). Among the participants, 12% (5/41) were considered high risk for BRCA mutations. All the models presented significant correlation between the odds of BRCA1/2 mutation risk, except between Myriad II and Boadicea models. Since there is no model that includes all the variables influencing the development of this disease, it is essential to estimate the risk by more than one model before initiating any clinical intervention.
Highlights
Breast cancer is the second most frequent cancer worldwide, the most common among women, relatively rare before 35 years old; above this age its incidence grows rapidly and steadily until 50 years, and later its prevalence progresses slowly
Women considered at high-risk for breast cancer presented: early menarche, late age at first birth and menopause in relation to the total population; half of these women had at least one particular characteristic, such as the use of hormone replacement therapy (HRT), prior breast biopsy or a relative diagnosed with breast cancer before age 50 (Table 2)
The present study showed no correlation of the risk values for BRCA mutation only between the models Myriad II and Boadicea, but for the other models there were significant correlations (p < 0.05), regarding the classification of the risk there was considerable divergence among the models (Table 2)
Summary
Breast cancer is the second most frequent cancer worldwide, the most common among women, relatively rare before 35 years old; above this age its incidence grows rapidly and steadily until 50 years, and later its prevalence progresses slowly. About 15-20% of people affected by breast cancer may have a first- or second-degree relative affected, characterized as familial breast cancer. This can emerge as a result of the interaction between multiple genes and environmental factors, or of a gene that promotes susceptibility, but with low penetrance (HEMMINK; ENG, 2004), only 5-10% of this population present inherited predisposition (RUISÁNCHEZ et al, 2000)
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