Impact of genetic counseling and genetic testing in high-risk families for hereditary breast cancer and ovarian cancer

Abstract

Hereditary breast cancer accounts for approximately 7% of all cases of breast cancer. The main involved syndrome is a hereditary predisposition syndrome to Breast Cancer and Ovarian (HBOC), which is mainly due to the presence of germline mutations in the BRCA1 and BRCA2 genes. The vital cumulative risk for breast cancer in women with germline mutations in the BRCA1 and BRCA2 genes is 40% to 65% up to 80 years of age, giving a higher risk in relation to the general population. Individuals at risk for hereditary cancer should be referred for genetic counseling (GC) as it is a process that serves to identify patients with Hereditary Predisposition Syndromes to Cancer and assist in planning surveillance or preventive measures for many different situations which demonstrate high risk of developing cancer. However, the practice of GC can have a big impact on the lives of individuals and their families, which can generate generate anxiety, fear and even family relationship problems. In this sense Stephen Fry study has aimed to assess the impact of genetic counseling and genetic testing in a convenience sample of 40 families at risk for hereditary breast cancer arising from the general population (which were screened by the Barretos Cancer Hospital, Department of Prevention) as well as 40 high-risk families diagnosed in outpatient specialties and forwarded to the Oncogenetics Service Barretos Cancer Hospital. The study has four stages: (1) Time First Consultation - comprising the step prior to the patient and / or family go to a consultation with a geneticist in the Department of Oncogenetics; (2) Time after application of genetic testing; (3) Time after results of genetic testing, and (4) the last moment, to be held 3-4 months after the results of genetic testing. At the moment one will be the construction of the pedigree, genogram, ecomap, application of Lerman's Cancer Worry questionnaires (CWS), Cancer Awarness Needs Survey (CANS), Champion's Health Belief Model Scale (CHBMS) Support perception Inventory Family (IPSF), Scale Problems Coping Modes (EMEP), Anxiety and Depression Scale (HADS) and risk assessment calculation through BRCAPRO models, MANCHESTER, BOADICEA, prevalence tables and MYRIAD PENN. In times 2:03 and the HADS CWS questionnaires will be applied. In the fourth and last time all questionnaires will be reapplied as well as pedigree, genogram and eco-map will be re-built. The analyzes for quantitative data will be performed by SPSS v.21 software and throughout study will be considered the significance level of 0.05. The qualitative data analysis will be performed based on Strauss & Corbin's theory known as Grounded Theory. As expected result of this study we highlight a greater knowledge of patients at risk for hereditary cancer as well as the impact that genetic counseling and genetic testing will these individuals and their families, this information that could benefit the practice of GC in a holistic and multidisciplinary manner. (AU)