BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.

We determined the frequency and mutational spectrum of BRCA1 and BRCA2 in a series of patients at high risk for developing breast cancer from Brazil. A total of 1267 patients were referred for BRCA genetic testing, and no obligation of fulfilling criteria of mutation probability methods for molecular screening was applied. Germline deleterious mutations in BRCA1/2 (i.e., pathogenic/likely pathogenic variants) were identified in 156 out of 1267 patients (12%). We confirm recurrent mutations in BRCA1/2, but we also report three novel mutations in BRCA2, not previously reported in any public databases or other studies. Variants of unknown significance (VUS) represent only 2% in this dataset and most of them were detected in BRCA2. The overall mutation prevalence in BRCA1/2 was higher in patients diagnosed with cancer at age > 35 years old, and with family history of cancer. The present data expand our knowledge of BRCA1/2 germline mutational spectrum, and it is a valuable clinical resource for genetic counseling and cancer management programs in the country.

Institutionalized elderly: vulnerabilities and strategies to cope with Covid-19 in Brazil

This article presents a systematized reflection and discussion around two guiding axes: the first discusses aging and vulnerabilities to biological, physical, cognitive, social and affective losses that require specific attention, as well as vulnerabilities to COVID-19 to which institutionalized elderly people are exposed; the second, we reflect on the adoption of restrictive and protective measures to prevent the spread of the virus, aiming to keep the elder health and mitigate the effects of the pandemic. The conclusion is that the pandemic has increased the many vulnerabilities to which institutionalized older people were already exposed, adding vulnerability to a new disease, such as COVID-19, due to its high lethality and comorbidity, aggravated by precariousness of long-term Brazilian institutions due to the negligence of public authorities, civil society, the management of the institution and the families of the patients. The post-pandemic scenario will require collective efforts to protect and ensure the survival of the elderly living in those residences.

Este artículo presenta una reflexión y discusión sistematizada en torno a dos ejes orientadores: en el primero, se habla sobre el envejecimiento y las vulnerabilidades a las pérdidas biológicas, físicas, cognitivas, sociales y afectivas que requieren atención específica, y, así mismo, sobre las vulnerabilidades a COVID-19 a las que están expuestos los ancianos institucionalizados; en el segundo eje, se reflexiona sobre la adopción de medidas restrictivas y de protección para prevenir la propagación del virus con el objetivo de mantener la salud del anciano y mitigar los efectos de la pandemia. La conclusión es que esta ha incrementado las numerosas vulnerabilidades a las que ya estaban expuestas las personas mayores institucionalizadas, agregando, además, la vulnerabilidad a una enfermedad nueva como es el COVID-19, debido a la alta letalidad y comorbilidad que representa, la cual, es agravada por la precariedad de las instituciones brasileñas de larga estancia debido a la negligencia de las autoridades públicas, la sociedad civil, la gerencia de la institución y las familias de los pacientes. El escenario post-pandemia requerirá esfuerzos colectivos para proteger y garantizar la supervivencia de los ancianos que viven en estas residencias.

Este artigo apresenta uma reflexão sistematizada e discussão em torno de dois eixos orientadores: o primeiro discute o envelhecimento e vulnerabilidades a perdas biológicas, físicas, cognitivas, sociais e afetivas que requerem atenção específica, bem como vulnerabilidades à COVID-19 a que os idosos institucionalizados são expostos; e na segunda, refletimos sobre a adoção de medidas restritivas e protetivas para prevenir a propagação do vírus, com o objetivo de manter a saúde dos idosos e mitigar os efeitos da pandemia. A conclusão é que a pandemia aumentou as muitas vulnerabilidades às quais os idosos institucionalizados já estavam expostos, agregando vulnerabilidade a uma nova doença, como a COVID-19, devido à alta letalidade e comorbidade que representa, agravada pela precariedade das instituições brasileiras de longo prazo devido à negligência do poder público, da sociedade civil, da gestão da instituição e das famílias dos pacientes. O cenário pós-pandemia exigirá esforços coletivos para proteger e garantir a sobrevivência dos idosos que vivem nessas residências.