Browsing by Author "Mendes, AD"
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- Mutation Patterns in Portuguese Families with Hereditary Breast and Ovarian Cancer SyndromePublication . Vicente, R; Alpuim Costa, D; Vitorino, M; Mendes, AD; Santos, C; Fontes-Sousa, MGermline pathogenic variants in the Breast Cancer Genes 1 (BRCA1) and 2 (BRCA2) are responsible for Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Genetic susceptibility to breast cancer accounts for 5-10% of all cases, phenotypically presenting with characteristics such as an autosomal dominant inheritance pattern, earlier age of onset, bilateral tumours, male breast cancer, and ovarian tumours, among others. BRCA2 pathogenic variant is usually associated with other cancers such as melanoma, prostate, and pancreatic cancers. Many rearrangements of different mutations were found in both genes, with some ethnic groups having higher frequencies of specific mutations due to founder effects. Despite the heterogeneity of germline BRCA1/BRCA2 mutations in Portuguese breast or/and ovarian cancer families, the first described founder mutation in the BRCA2 gene (c.156_157insAlu) and two other variants in the BRCA1 gene (c.3331_3334del and c.2037delinsCC) contribute to about 50% of all pathogenic mutations. Furthermore, the families with the BRCA1 c.3331_3334del or the c.2037delinsCC mutations share a common haplotype, suggesting that these may also be founder mutations in the Portuguese population. Identifying specific and recurrent/founder mutations plays an important role in increasing the efficiency of genetic testing since it allows the use of more specific, cheaper and faster strategies to screen HBOC families. Therefore, this review aims to describe the mutational rearrangements of founder mutations and evaluate their impact on the genetic testing criteria for HBOC families of Portuguese ancestry.
- The impact on productivity costs of reducing unemployment in patients with advanced breast cancer: A model estimation based on a Portuguese nationwide observational studyPublication . Vasconcelos de Matos, L; Borges, M; Oliveira, AT; Bulhosa, C; Miguel, LS; Fidalgo de Freitas, T; Cunha, R; Mendes, AD; Arede, AJ; Marques, C; Costa, DA; Correia, JA; Brito, M; Fontes e Sousa, M; Guimarães, T; Cardoso, FThis study aimed to characterize the employment status and work-related conditions of patients with advanced breast cancer (ABC) in Portugal and quantify the productivity costs of premature abandonment of the work market while evaluating strategies to promote employment. The analysis was based on a cumulative incidence model for estimation of ABC prevalence and on a cross-sectional study characterizing the employment status of patients with ABC. This study was conducted in Portuguese hospitals, between Nov2021-Dec2022 and included patients diagnosed with ABC for at least 6 months, aged 66 or less and consenting for a self-answered questionnaire regarding work status. A total of 2151 working-aged women were estimated to have ABC in 2019 in Portugal, with productivity costs amounting to 28,676,754€ over 2019-2021. 112 patients from 9 hospitals were included in the study, average age was 52yr, 48 % had a postsecondary educational degree level and 87 % reported having a paid job at the time of diagnosis, mostly full-time. At the time of the study, only 38 % of the patients maintained the job status. The remaining were unemployed (51 %), on medical leave (25 %) or retired (24 %). Stop working was a personal choice for only 5 %. A subsidized part-time employment regimen, despite increased government costs, would allow a reduction in productivity costs, leading to a positive balance of 2,431,329€ over the same period. This study suggests that the majority of patients with ABC abandon the labor market before the age of retirement. Flexible work arrangements would benefit the patient, the government and the society.