Abstract
One of the challenges for Latin American countries is to include in their healthcare systems technologies that can be applied to hereditary cancer detection and management. The aim of the study is to create and validate a questionnaire to identify individuals with possible risk for hereditary cancer predisposition syndromes (HCPS), using different strategies in a Cancer Prevention Service in Brazil. The primary screening questionnaire (PSQ) was developed to identify families at‐risk for HCPS. The PSQ was validated using discrimination measures, and the reproducibility was estimated through kappa coefficient. Patients with at least one affirmative answer had the pedigree drawn using three alternative interview approaches: in‐person, by telephone, or letter. Validation of these approaches was done. Kappa and intraclass correlation coefficients were used to analyze data's reproducibility considering the presence of clinical criteria for HCPS. The PSQ was applied to a convenience sample of 20,000 women of which 3121 (15.6%) answered at least one affirmative question and 1938 had their pedigrees drawn. The PSQ showed sensitivity and specificity scores of 94.4% and 75%, respectively, and a kappa of 0.64. The strategies for pedigree drawing had reproducibility coefficients of 0.976 and 0.850 for the telephone and letter approaches, respectively. Pedigree analysis allowed us to identify 465 individuals (24.0%) fulfilling at least one clinical criterion for HCPS. The PSQ fulfills its function, allowing the identification of HCPS at‐risk families. The use of alternative screening methods may reduce the number of excluded at‐risk individuals/families who live in locations where oncogenetic services are not established.
Highlights
5–10% of cancer cases have a hereditary pattern, which is caused by germline mutations in oncogenes and tumor suppressor genes [1,2,3,4,5]
As a consequence of all facts exposed above, the attention focused on the screening and identification of individuals and families at-risk for hereditary cancer predisposition syndromes (HCPS) remains limited in Brazil and other Latin American countries [16, 17]
The primary screening questionnaire (PSQ) had high sensitivity (94.4%) and specificity (75%), showing that it is an effective tool for identifying individuals and/or families at-risk for hereditary cancer in a population-based sample
Summary
5–10% of cancer cases have a hereditary pattern, which is caused by germline mutations in oncogenes and tumor suppressor genes [1,2,3,4,5]. The accurate identification of relatives’ wild type for the mutation segregating in an at-risk family reassures the individual and eliminates the expenses and complications of unnecessary screening and preventive interventions. In Brazil, there are few specialized services for hereditary cancer predisposition syndromes (HCPS) diagnosis and follow-up [9]. These services are primarily available at hospitals attached to medical schools and expensive private institutions, mainly located in major population centers, restricting and prejudicing their access [8, 10]. As a consequence of all facts exposed above, the attention focused on the screening and identification of individuals and families at-risk for HCPS remains limited in Brazil and other Latin American countries [16, 17]
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