Detecting women at risk of carrying breast and ovarian Cancer related mutations in Brazil

• Grant number: 12/05754-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: August 01, 2012
• End date: July 31, 2013
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Maria Del Pilar Estevez Diz
• Grantee: Natália Teixeira
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Ovarian cancer is one of the most common gynecological malignancies and the 5th cancer-related cause of death among women. Most cases are diagnosed in advanced stages, mainly due to the early spread of the disease and the lack of symptoms in early stages. Approximately 5% to 10% of all cases of ovarian cancer have a genetic predisposition, most of the time related to mutations in BRCA1 and BRCA2. In women who carry mutations in one of these genes cumulative incidence of ovarian cancer at the age of 70 is estimated to be 40% (95% CI 35%-46%) in BRCA1 mutation carriers and 18% (95% CI 13%-23%) in BRCA2 mutation carriers (Chen et al 2007). Previous studies have shown that factors associated with women's exposure to sexual hormones - for example, frequency of menstrual cycles - affect the risk of developing ovarian cancer in the general population. In women with a genetic predisposition for ovarian cancer, the reduced amount of studies prevents a clear conclusion. In Brazil, most women do not have access to genetic testing. Most studies look only at breast cancer, hence there are only a few studies regarding hereditary ovarian cancer, so the prevalence of BRCA1/2 mutations in the Brazilian population and the risk of mutation carriers developing ovarian cancer have not been well established yet. As a consequence, for most women, there is neither risk assessment nor preventive strategies available. Taking into account that screening methods currently available are not effective (Van der Velde et al 2009, Hermsen et al 2007), that preventive oophorectomy has been proved to reduce ovarian cancer risks significantly (Kauff et al 2002, Rebbeck et al 2002) and that breast and ovarian cancer family history is relatively common, detecting women with a positive family history that have an increased risk of developing ovarian cancer and counseling them on risk reduction strategies are essential for preventing this malignancy in the high-risk population. The aim of the present study is to develop a questionnaire that can be used to detect women with an increased risk of having ovarian cancer in the Brazilian population. Such questionnaires could be introduced in already available screening programs. Tailored care could then be offered to these patients and their relatives. All women diagnosed with ovarian cancer undergoing treatment at Instituto do Câncer do Estado de São Paulo (ICESP) will be invited to participate in this study. A questionnaire covering the family history of cancer and exposure to risk factors previously mentioned in the literature as well as environmental factors that could be risk modifiers will be developed with the help of specialists on this topic and applied to 50 patients. Additionally, a blood sample will be collected from each patient involved in the study for future DNA analysis. All information will be entered into an SPSS database and the statistical analysis will be performed with the help of this software.(AU)