ABSTRACT A total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%–10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes identical to those with genetic origin occur because of environmental factors rather than familial mutations. We describe a case of phenocopy in a 44-year-old female patient with triple-negative breast cancer. The mother and sister wee heterozygous for c.1813delA, p.Ile605TyrfsTer9 in BRCA2 […]

Highlights Karyotype was normal in 60% of patients and altered in 40%. The variants most often detected in the myeloid panel were: JAK2 (54%), ASXL1 (50%), TET2 (31%), and CALR (22%). The median follow-up of transplant patients was 2.4 years and the two-year overall survival was 80%.   ABSTRACT Objective To analyze the karyotype test and myeloid panel with next-generation sequencing findings in patients with myelofibrosis, and to compare transplant characteristics in patients referred for bone marrow transplantation. Methods Retrospective, […]

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. The genetic […]

ABSTRACT Objective To understand the feasibility of FGFR3 tests in the Brazilian public health context, and to sample the mutational burden of this receptor in high-grade muscle invasive bladder cancer. Methods A total of 31 patients with high-grade muscle-invasive bladder cancer were included in the present study. Either transurethral resection of bladder tumor or radical cystectomy specimens were analyzed. Formalin-fixed paraffin-embedded tissue blocks were sectioned, hematoxylin and eosin stained, and histologic sections were reviewed. Total RNA was extracted using the […]

RESUMO Objetivo Verificar a incidência da mutação G679A no éxon 2 do gene da inibina alfa (INHA) em mulheres com amenorreia secundária e diagnóstico de insuficiência ovariana prematura e em controles. Métodos Uma amostra de 5mL de sangue periférico foi coletada de todos os participantes do estudo em tubo de EDTA e utilizada para a extração de DNA. Para o grupo de pacientes, foram coletados também 5mL de sangue em tubo contendo heparina para realização de cariótipo, e 5mL um […]

RESUMO Objetivo: Avaliar a viabilidade da análise da expressão gênica por microarray no sangue periférico de pacientes com doença de Parkinson com diferentes perfis genéticos, para a identificação de marcadores que possam estar relacionados ao desenvolvimento da doença ou que possam se tornar úteis para o seu o diagnóstico. Métodos: Foram selecionados pacientes portadores de mutações nos genes PARK2 ou PARK8, além de parkinsonianos não-portadores dessas mutações e controles sadios, sendo cinco pessoas em cada grupo. A expressão gênica global […]