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Background: Familial adenomatous polyposis (FAP) is a syndrome caused by germline pathogenic variants in the tumor suppressor gene adenomatous polyposis coli (APC). Identification of APC pathogenic variants sites and the genotype-phenotype correlation are important for characterizing, monitoring, and treating members of affected families. The aim of this study was to correlate genotype-phenotype of Brazilian individuals carrying APC pathogenic germline variants and that have FAP., Methods: The polyposis phenotype of 99 individuals from 35 families between July 2013 and December 2014 were prospectively evaluated based on the InSIGHT polyposis staging classification. Seven extra-colonic manifestations were assessed and the clinical manifestations correlated with the APC genotype., Results: The age of the study participants ranged from 12 to 67 years (median of 29 years). Twenty-six APC pathogenic variants were identified. Fifty-five cases harbored nonsense pathogenic variants (55.6%). Frameshift alterations were noted in 39 cases (39.4%). Aberrant splicing was noted in 1 case (1%). Rearrangements were observed in 3 cases (3%). An association between nonsense variants and rearrangement was noted in 1 case (1%). The genotype-phenotype correlation analysis led the identification of classic FAP in 94 cases (94.9%). Profuse polyposis was identified in 5 cases (5.1%). Thirty-six cases were diagnosed with cancer of which 29 cases (80.6%) were colorectal cancer, 1 case (2.7%) was brain cancer, 4 cases (11.2%) were papillary thyroid cancer, and 2 cases (5.5%) were stomach cancer. The extra-colonic manifestations included 9 individuals with desmoids tumors, 10 with osteomas, and 9 with congenital hypertrophy of the retinal pigment epithelium., Conclusions: The genotype-phenotype correlation in Brazilian individuals with FAP revealed specific findings not previously reported for other cohorts, demonstrating the relevance of knowledge regarding the variable pathogenic variants and clinical presentation in different populations for adequate individual clinical management of patients harboring this medical condition., (© 2019 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)

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., (© 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)

Background: It has been demonstrated that most patients in the terminal stages of cancer would benefit from palliative home-care services., Aim: The aim of this study was to assess the effectiveness of appropriate palliative home-care services in reducing hospital admissions, and to identify factors predicting the likelihood of patients treated at home being hospitalized., Design: Retrospective cohort study., Setting/participants: We enrolled all 402 patients listed by the Local Health Authority No. 5, Veneto Region (North-East Italy), as dying of cancer in 2011., Results: Of the cohort considered, 39.9% patients had been taken into care by a palliative home-care team. Irrespective of age, gender, and type of tumor, patients taken into care by the palliative home-care team were more likely to die at home, less likely to be hospitalized, and spent fewer days in hospital in the last 2 months of their life. Among the patients taken into care by the palliative home-care team, those with hematological cancers and hepatocellular carcinoma were more likely to be hospitalized, and certain symptoms (such as dyspnea and delirium) were predictive of hospitalization., Conclusions: Our study confirms the effectiveness of palliative home care in enabling patients to spend the final period of their lives at home. The services of a palliative home-care team reduced the consumption of hospital resources. This study also provided evidence of some types of cancer (e.g. hematological cancers and hepatocellular carcinoma) being more likely to require hospitalization, suggesting the need to reconsider the pathways of care for these diseases.

Background: Worldwide, there has been a marked increase in the number of inguinal and femoral hernia repairs performed as day surgery procedures. This study aimed to outline the epidemiology of the procedures for repairing unilateral inguinal and femoral hernia in the Veneto Region, and to analyze the time trends and organizational appropriateness of these procedures., Methods: Drawing from the anonymous computerized database of hospital discharge records for the Veneto Region, we identified all unilateral groin hernia repair procedures completed in Veneto residents between 2000 and 2009 at both public and accredited private hospitals., Results: A total 141,329 hernias were repaired in the Veneto Region during the decade considered, with an annual rate of 291.2 per 100,000 population for inguinal hernia (IH) repairs and 11.2 per 100,000 population for femoral hernia (FH) repairs. Day surgery was used more for inguinal than for femoral hernia repairs, accounting for 76% and 43% (p< 0.05), respectively, of all hernia repair procedures completed during the period. The % of other than surgery hospital ordinary admissions (day surgery or ambulatory surgery) during the decade considered rose from 61.7% to 86.7% for IH and from 33.0% to 61.8% for FH., Conclusions: In the last decade, the Veneto Region has reduced the rate of ordinary hospital admissions for groin hernia repair with a view to improving the efficiency of the hospital network.