Abstract for presentation at 11th International Congress of Human Genetics

Hereditary breast cancer in women with cancer family history recruited from a community-based sample

  • Edenir Palmero, Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Brazil
  • Luciane Kalakun, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
  • Dr Fernanda Roth, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
  • Dr Lavínia Schüler-Faccini, Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Brazil
  • Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
  • Dr Maira Caleffi, Moinhos de Vento Hospital, Brazil
  • Dr Patricia Ashton-Prolla, Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Brazil

    • Hereditary breast cancer (HBC) accounts for only 5-10% of all breast cancer cases (BC), but the identification of at-risk patients is important for the implementation of cancer prevention strategies in these high risk individuals. In Rio Grande do Sul (RS), the Brazilian southernmost State, BC is a significant public health care problem, and first cause of all deaths in young women. The goal of this study was to determine the frequency of pedigrees with criteria for an HBC syndrome in a sample of women recruited from the community in Porto Alegre, RS’s capital. Patients were recruited in primary health care centers by a questionnaire about family history of BC, ovarian (OC) and colorectal (CRC) cancer. Currently, 6871 women were recruited and 910 (13,24%) reported at least one of the above mentioned features of the family history and were called for genetic evaluation. Of these 910, 5,02% reported at least one 1st degree relative with BC and/or OC; 8,31% at least one relative with BC before age 50, and 1,76% at least one relative with bilateral BC. Preliminary data on the genetic evaluation of the first 556 families follows. The estimated average mutation probability of mutation in a BRCA gene was 9,45% and 36/556 families (6,47%) had criteria for a HBOC syndrome. When criteria for other HBC syndromes was analysed, we found that 24/556 (4,31%) families fulfilled criteria for Li-Fraumeni (LFS) or Li-Fraumeni-like syndromes (LFLS) and 7/556 (1,25%) fulfilled criteria for the hereditary breast and colon cancer (HBCC) syndrome. The prevalence of a family history typical of LFS/LFLS in this sample is extraordinarily high, when compared to similar reports in the literature and needs to be further investigated. 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.

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