Genetic counseling and cancer risk perception in Brazilian patients at-risk for hereditary breast and ovarian cancer

Abstract

9698 Background: In Brazil, breast cancer (BC) is the first cause of cancer-related deaths in women of all ages; in Southern Brazil it is the first cause of all deaths in women ages 30–49 years. Only a few cancer genetic services exist in Brazil and studies on hereditary breast and ovarian cancer (HBOC) knowledge, cancer risk perception and impact of genetic counseling in Brazilian patients at-risk for these syndromes have not been published. This study was conducted to evaluate all of these aspects in patients of three major Brazilian capitals. Methods: Patients responded to a specific questionnaire before their first genetic consultation that included questions about demographic data; BC, ovarian cancer (OC) and HBOC knowledge; frequency and compliance to BC/OC age-specific screening guidelines; BC risk factors; cancer risk perception and knowledge and motivation for genetic predisposition testing. For all patients, complete personal and family histories were obtained. Cancer risk was estimated using the Gail model, Claus tables and BRCAPro software whenever appropriate. Results: Two-hundred and seventy patients were included in the study over a period of 2 years; there was an equal distribution of patients with cancer (symptomatic) and without cancer but with a BC/OC family history (asymptomatic). The average age at evaluation was 46 years, being 10 years higher in the symptomatic group of patients. HBOC knowledge was very poor and approximately 30% did not comply to age-specific BC screening guidelines. Most patients perceived their lifetime BC risk as being > 50% and for most, the estimated BC risk was significantly lower (most patients overestimated their BC risk in as much as 8 times, especially in the asymptomatic group). Patients responded to the same questionnaire 12 months later and 60% of them estimated their risk correctly as compared to 22% before genetic counseling. Conclusions: Most patients had a low-moderate lifetime risk of cancer, but significantly overestimated their risk before genetic counseling. Risk perception was reduced and became more consistent with the estimated risk after genetic counseling. No significant financial relationships to disclose.