Abstract for presentation at 11th International Congress of Human Genetics

Frequency and accuracy of the first-degree family history of cancer

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

    • A positive family history, especially in first-degree relatives (FDR) is one of the most important risk factors for breast cancer. The goal of this study was to evaluate the prevalence of first-degree family history of cancer in an unselected sample of low-literacy women recruited in primary-care health centers through an interview and questionnaire application. In addition, accuracy of self- reported cancer history in a FDR was evaluated. Of 6514 women recruited, 4,51% were illiterate, 49,51% and 16,64% had incomplete and complete elementary education, respectively. When asked about cancer family history, 1516 (23,27%) had at least one FDR with cancer. The most frequent tumors reported, in decreasing order, were lung, prostate, esophagus and stomach in men and breast, uterus, colon and lung in women. The accuracy of reported FDR history was evaluated by telephone approximately 12 months after the initial interview. Of the 1516 women reporting at least one FDR with cancer, alleatory telephone contact was made with 710 (46,83%). In 625 (88,02%) patients, the history reported by phone was exactly the same as the one reported initially. In addition, we observed that 29 of 710 patients contacted by phone (4,08%) denied cancer history in a FDR. In 56 (7,88%) of the patients, FDR history of cancer was confirmed, but one of the following inconsistencies were described: the type of cancer was different in 25 (3,52%) and the relative affected was different in 31 (4,36%). We conclude that a significant proportion of women report history of cancer in a FDR accurately, despite of low literacy. These findings have considerable relevance to clinical practice and are important to validate family history taking in cancer risk estimation models that use this variable. In addition, prevalence of cancer diagnoses in FDRs of a specific population may be useful to predict the caseload of patients at increased cancer risk.

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