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

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.

Ressecção completa da parede torácica associada à linfadenectomia da mamária interna em recidiva local isolada por câncer de mama / Full-thickness chest wall resection with internal mammary lymph node lymphadenectomy for isolated breast cancer recurrence

RESUMO Aproximadamente 30% dos doentes com câncer de mama apresentam recorrência local, à qual pode se associar doença locorregional ou sistêmica. A recorrência local isolada esternal e mediastinal é rara, sendo a toracectomia o único tratamento cirúrgico curativo a ser oferecido a esses pacientes. Apresenta-se relato de paciente portadora de carcinoma ductal invasivo da mama submetida a tratamento curativo, que aos 35 meses apresentou recidiva esternal única. Submetida à toracectomia esquerda com ressecção parcial esternal, ressecção de segmentos de arcos costais, com reconstrução com tela sintética, retalho miocutâneo de músculo grande dorsal e linfadenectomia da cadeia mamária interna. Discute-se os aspectos relacionados à recidiva local, às indicações da ressecção da parede torácica, ao tratamento cirúrgico, seus resultados e ao prognóstico nessa condição.

Approximately 30% of patients with breast cancer have local recurrence, which may be associated with locoregional or systemic disease. The sternal isolated local recurrence is rare, and thoracoplasty is the only intent curative surgical treatment to be offered to these patients. This article presents a patient with breast cancer submitted to a curative treatment, but with a single chest wall recurrence at 35 months. She was submitted to a left sternal thoracoplasty with partial resection, resection of segments of ribs, with reconstruction with synthetic mesh, major flap of latissimus dorsi muscle and internal mammary lymphadenectomy. We discuss the aspects related to local recurrence, the indications related to surgical treatment, the modalities of treatment, its results and the prognosis for this condition.