A SCREENING STUDY OF FAMILIAL CANCER SYNDROMES ASSOCIATED WITH BREAST CANCER

Introduction: Breast cancer (BC) is the most prevalent cancer among women in developed countries. Inherited BC is connected with germ line mutations that lead to association with rare cancer syndromes. The pedigree research, using adequate research instruments, can help to access the risk of disease. Objective: The aim of this study was to screen subjects with probable familial cancer syndromes by interviews of pedigree research. Methods: 350 consecutive women diagnosed with BC in a public reference hospital in Porto Alegre were selected to join the study. Were excluded patients that don’t fit in at least one of the National Comprehensive Cancer Network (NCCN) directives or that refused to join the study. Detailed pedigree information was obtained through the application of history family research instrument validated by the National Cancer Institute of Brazil (INCA) in a patient with BC and in one first-degree relative. Based on this, we constructed heredograms to identify the probability of having a hereditary syndrome associated with BC. This study was approved and by the proper Research Ethic Committee (protocol n. 1.128.105). Results: From the database of 350 BC patients, 80 were selected. From the 80 patients, 52 (65,0%) proceeded to the interview as well as their first-degree relative. Twenty-eight (35%) patients we could not contact or refused to join the study. After studying the 52 cases, 10 families (19,2%) were found to have probable familial cancer syndromes: 5 cases of HBOC, 3 of HNCC, 1 of PJ and 1 of CS. We identified 68 relatives with history of cancer. Considering clinicopathological characteristics of BC, the group with probable familial cancer syndrome presented significantly more BC's relapse than the other patients: 70%(p<0.019). All the relapses were systemic and one patient of the probable syndrome group died during the research period. Conclusion: There are still few studies examining detail pedigree information to access the probability of familial cancer syndromes. Prediction of disease risk based on comprehensive family history information, have no extra cost and can improve polices of counseling services, screening programs and cancer surveillance. Our study identified 10 probable families and 68 subjects affected by different types of cancers by just interviewing patients. Molecular analysis is needed to confirm the probable familial syndromes accessed and to determine a specific strategy to the affected families.

 

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No conflict of interest has been declared by the author(s).

Publication History

Article published online:
10 July 2025