Susan G Komen  
I've Been Diagnosed With Breast Cancer Someone I Know Was Diagnosed Share Your Story Join Us And Stay Informed Donate To End Breast Cancer
    Home > Research & Grants > Grants Program > Research Grants > Research Grants Awarded > Abstract
    Awarded Grants
    Identification and Characterization of Patients at Risk for Hereditary Breast Cancer in Southern Brazil.

    Scientific Abstract:
    Identification and characterization of patients at-risk for hereditary breast cancer in Southern Brazil. Although hereditary breast cancer (HBC) accounts for only 5-10% of all breast cancer cases (BC) in most populations, identification of at-risk patients is important for several reasons. First, these individuals have a significantly higher lifetime risk of BC and other tumors; second, other at-risk family members of an affected individual may be identified, and; third, effective cancer risk reduction strategies are available for these patients. In Brazil, BC is a significant public health problem: it is the first cause of cancer-related deaths in women of all ages. In Rio Grande do Sul, the Brazilian southernmost State, BC incidence and mortality rates for 2003 are predicted to be 44,7 and 8,5 per 100,000 individuals, respectively, and BC is the first cause of all deaths in young women (30-49 years). The capital of Rio Grande do Sul, Porto Alegre, has the country´s highest BC incidence and mortality rates (79,0 and 14,1 per 100,000 individuals, respectively, compared to the average BC incidence and mortality rates of 36,5 and 4.9 per 100,000 in the country). Exposure to environmental risk factors and genetic predisposition may explain this latter observation, but to date, no systematic investigation has been conducted in Southern Brazil to examine this hypothesis at the population level. The only two cancer genetic services that exist in the State are located in tertiary university hospitals and predominantly provide intra-mural services for breast cancer patients diagnosed in these institutions. The present study will examine the contribution of genetic risk factors to such distinct BC statistics in Southern Brazil. This question will be addressed initially through identification and characterization of HBC at-risk patients and families in a representative sample of the population of Rio Grande do Sul´s capital, Porto Alegre. The specific aims are to investigate the prevalence of BC and other tumors in first- degree relatives and the prevalence of specific hereditary breast cancer risk factors in a representative sample of the local population. Furthermore, in all identified HBC at-risk patients, the study will evaluate HBC knowledge, breast cancer risk perception, family dynamics, attitudes toward genetic testing and seek selected breast cancer susceptibility gene mutations (including BRCA1, BRCA2, p53 and CHEK2 mutation screening). Voluntary agents of a community-based non-profit organization will transmit basic concepts about HBC to municipal health agents responsible for the selected study patients and train them in the application of an HBC risk-questionnaire. Approximately 10.000 women over the age of 15 will be actively recruited by these municipal health agents in a closed controlled population and submitted to the questionnaire. If any genetic risk factor is identified the patient will then be invited for a specific genetic evaluation and if agreed, submitted to informed consent to participate in the study. At this point, additional questionnaires (knowledge, risk perception, family dynamics) will be applied and formal genetic counseling as well as genetic testing will be offered to all eligible patients. The entire genetic counseling process will be under the responsibility of an academic team of geneticists. In the population sample of 10.000 women, the expected outcomes include determination of prevalence of a) cancer diagnoses in first degree relatives and b) specific hereditary breast cancer risk factors. In the HBC high-risk patients identified, the expected outcomes will be the determination of specific patient profiles (i.e. regarding HBC knowledge, risk perception, attitudes toward genetic testing) and of the contribution of mutations in each of the specific breast cancer susceptibility genes studied. The primary benefits of the proposed study are better understanding of the significance of HBC as a contributor for the high-prevalence of BC in our population and of the characteristics and needs of HBC at-risk patients. Expected secondary benefits include training of health care professionals in the identification of HBC at-risk patients and the availability of cancer genetic services (counseling, testing and follow-up/management) in an underserved community. Results of this study will influence the delineation of specific BC prevention strategies for the local community and direct dissemination of the same HBC identification and characterization program to a larger percentage of this population.

    Lay Abstract:
    Research project intends to determine the prevalence and significance of hereditary breast cancer in Southern Brazil. Hereditary breast cancer (HBC) is responsible for 5 to 10% of all breast cancer (BC) cases and this proportion is more or less the same worldwide. The identification of people at risk for HBC is important since they, and their relatives, may have a much higher chance of developing cancer than people in general. After this first step, a series of effective prevention strategies can be considered to fight cancer in these individuals. In Brazil, breast cancer (BC) has an enormous effect on public health, being the first cause of cancer-related deaths in women. Rio Grande do Sul (RS), Brazil´s southernmost State, contributes negatively to these statistics being the State with the highest BC incidence and mortality rates of the entire country. Also, BC is the first cause of all deaths in young women (ages 30-49 years) from RS. The city of Porto Alegre, capital of RS, has the highest BC incidence rates of the country. Its BC incidence and mortality rates for 2003 are predicted to be 79,0 and 14,1 per 100.000, respectively. Compared to the incidence and mortality rates of RS (44,7 and 8,5 per 100,000) and Brazil (36,5 and 4,9 per 100,000), these figures are extremely high, and make of BC a major public health problem in this city. The exact cause for these observations is still unknown, but some explanations – such as environmental risk factors and genetic predisposition – are constantly debated. The research project presented here intends to recruit a respresentative share of resident women from the city of Porto Alegre and identify in these women risk factors for HBC. At-risk patients and their relatives will be identified by evaluation of their cancer family histories (especially first-degree relatives) and presence of specific HBC-related risk factors (i.e. male breast cancer, family history of breast and ovarian cancer, among others). The individuals will also be characterized for knowledge about BC and HBC, risk perception, and attitudes towards genetic predisposition testing. With the help of voluntary agents from a community-based organization to fight BC, municipal health agents of the city of Porto Alegre will be educated in HBC basic concepts and trained to identify patients at risk for HBC. This will be done by the application of a risk questionnaire to approximately 10,000 women older than 15 years residing in a selected pre-determined area of Porto Alegre. If a genetic risk factor is identified in a woman, she will be referred for genetic counseling still within the community setting. The suspicion of HBC will be confirmed by genetic testing after pre-test counseling and informed consent in an academic center by the same group of investigators. This study will help determine what the real contribution of HBC is to the high local BC statistics. This information will be very important to support the creation of specific guidelines of risk identification and BC screening in this community. If a significant genetic contribution is encountered, the next step will be to expand the program to a broader share of the population of Porto Alegre and Rio Grande do Sul, with the ultimate goal of community-based identification and prevention of HBC.