Abstract

In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry and cancer risk perception during CGC sessions in Brazilian women at-risk for hereditary breast cancer. This study was performed in 264 individuals seeking CGC for hereditary breast cancer. Both cancer-affected and unaffected individuals were included. As results, individuals with and without cancer reported different motivations for seeking CGC and undergoing genetic testing. A correlation was observed between age at the first CGC session and age at which the closest relative was diagnosed with cancer. Multivariate analysis showed that educational level, cancer risk discussion within the family, and number of deaths by cancer among first-degree relatives influenced positively the cancer risk perception. In conclusion, the results of this study indicate that cancer-related worry and cancer risk perception are significant aspects of morbidity in individuals seeking CGC, whether they are cancer-affected or unaffected. CGC has an important role in health education and cancer prevention for its potential of promoting an accurate perception of the risk.

Highlights

  • The development and rapid improvement in molecular diagnosis of inherited genetic diseases during the last decades resulted in an increasing need for genetic counselling (GC), since it is a process that provides information and support for at-risk individuals and their families

  • A correlation (p < 0.001) was observed between age at the first Cancer Genetic Counselling (CGC) session and age at which the closest relative was diagnosed with cancer (Figure 1)

  • Few studies have been conducted with South American patients about the role and impact of CGC on cancer-affected patients and their relatives

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Summary

Introduction

The development and rapid improvement in molecular diagnosis of inherited genetic diseases during the last decades resulted in an increasing need for genetic counselling (GC), since it is a process that provides information and support for at-risk individuals and their families. In Brazil, a number of public CGC services have been created over the last decade They are predominantly located in tertiary university hospitals of several Brazilian capitals and offer genetic counselling through the public health care system for the index patient and at-risk family members and are directed to a selected population of highrisk patients that are seen in oncology clinics of these institutions (Penchaszadeh 2001; Llerena Junior 2002; Palmero et al, 2016). Genetic testing is offered to those families that fullfill NCCN (National Comprehensive Cancer Network) criteria for a hereditary breast cancer syndrome through local, national and/or international collaborative research studies (Palmero et al, 2007), once genetic testing is not covered by Brazilian Public Health System

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