Identification of hereditary cancer in the general population: development and validation of a screening questionnaire for obtaining the family history of cancer

Autor(es):Mostrar menos -

Campacci, Natalia ^[1] ; de Lima, Juliana O. ^[2] ; Carvalho, Andre L. ^[1] ; Michelli, Rodrigo D. ^[3] ; Haikel, Jr., Rafael ^[4] ; Mauad, Edmundo ^{[3, 4]} ; Viana, Danilo V. ^[3] ; Melendez, Matias E. ^[1] ; Vazquez, Fabiana de L. ^[1] ; Zanardo, Cleyton ^[5] ; Reis, Rui M. ^{[6, 1, 2, 7]} ; Rossi, Benedito M. ^[8] ; Palmero, Edenir I. ^{[1, 3, 2, 9]}

Afiliação do(s) autor(es)

^[1] Barretos Canc Hosp, Mol Oncol Res Ctr, Barretos - Brazil

^[2] Barretos Canc Hosp, Ctr Mol Diagnost, Barretos - Brazil

^[3] Barretos Canc Hosp, Oncogenet Dept, Barretos - Brazil

^[4] Barretos Canc Hosp, Prevent Dept, Barretos - Brazil

^[5] Barretos Canc Hosp, Ctr Res Support NAP, Barretos - Brazil

^[6] ICVS 3Bs PT Govt Associate Lab, Braga - Portugal

^[7] Univ Minho, Sch Med, Life & Hlth Sci Inst ICVS, Campus Gualtar, Braga - Portugal

^[8] Sirio Libanes Hosp, Sao Paulo - Brazil

^[9] Dr Paulo Prata FACISB, Barretos Sch Hlth Sci, Barretos - Brazil

• Tipo de documento: Artigo Científico
• Fonte: CANCER MEDICINE; v. 6, n. 12, p. 3014-3024, DEC 2017.
• Citações Web of Science: 2

Resumo

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. (AU)

• Processo FAPESP: 15/02444-9 - Impacto do aconselhamento genético e do teste genético em famílias de alto risco para câncer de mama e ovário hereditários (HBOC)
• Beneficiário: Natalia Campacci
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 13/24633-2 - Caracterização molecular de famílias de alto risco para câncer de mama hereditário, negativas para mutações nos genes BRCA1/BRCA2: à procura do BRCAx
• Beneficiário: Edenir Inêz Palmero
• Modalidade de apoio: Auxílio à Pesquisa - Regular