A5101776911- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Women's cancer prevention and management
- Childhood Cancer Survivors' Quality of Life
- Estrogen and related hormone effects
- Cancer Risks and Factors
- Epigenetics and DNA Methylation
- Cancer, Hypoxia, and Metabolism
- RNA modifications and cancer
- Palliative and Oncologic Care
- Cancer survivorship and care
- Genomic variations and chromosomal abnormalities
- Pharmacogenetics and Drug Metabolism
- Colorectal Cancer Screening and Detection
- Breast Cancer Treatment Studies
- Cancer-related Molecular Pathways
- Science and Education Research
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Colorectal and Anal Carcinomas
- Acute Lymphoblastic Leukemia research
- Patient Dignity and Privacy
- Genetics, Bioinformatics, and Biomedical Research
- Family Support in Illness
AC Camargo Hospital
2002-2025
Hospital Erasto Gaertner
2016-2024
Pontifícia Universidade Católica do Paraná
2017-2023
Centro Hospitalar Lisboa Norte
2023
Universidade Positivo
2022
Hospital de Câncer de Barretos
2020
Instituto Nacional do Câncer
2007-2019
Liga Contra el Cancer
2017
Gaertner (United States)
2016
Pontifical Catholic University of Rio de Janeiro
2016
Background Sarcomas are a rare and diverse group of cancers occurring mainly in young individuals for which an underlying germline genetic cause remains unclear most cases. Methods Germline DNA from 177 children, adolescents adults with soft tissue or bone sarcomas was tested using multigene panels 113 126 cancer predisposing genes (CPGs) to describe the prevalence pathogenic/likely pathogenic variants (GPVs). Subsequent testing subset tumours loss heterozygosity (LOH) evaluation performed...
It has been proposed that human colorectal tumors can be classified into two groups: one in which methylation is rare, and another with of several loci associated a "CpG island methylated phenotype (CIMP)," characterized by preferential proximal location the colon, but otherwise poorly defined. There considerable overlap between this putative methylator well-known mutator microsatellite instability (MSI). We have examined hypermethylation promoter region five genes (DAPK, MGMT, hMLH1,...
Abstract The NR3C1 glucocorticoid receptor (GR) gene is a component of the stress response system, which can be regulated by epigenetic mechanisms. methylation has been associated with trauma and mental issues, including depression, post-traumatic stress, anxiety, personality disorders. Previous studies have reported that stressful events are involved in methylation, suggesting its regulation under environmental effects complex. present study aimed to analyze associations involving stressors...
Abstract Background Cytochrome P450 1B1 (CYP1B1) enzyme plays an important metabolic role, especially in the metabolism of xenobiotics, endogenous substances, and procarcinogens. It may be involved tumor initiation progression. High levels CYP1B1 have been identified aggressive breast cancer cell lineages. The aim present study was to identify expression role this progression, prognosis, clinical features patients. Methods Microarray paraffin-embedded samples from 166 women with were...
Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles individual mutations. To describe neoplastic carriers pathogenic likely VHL germline mutations, our observational study recruited 1350 participants from 40 centers worldwide. 432 different mutations were observed, with p.Asn78Ser,...
This article outlines and discusses Brazil's new regulations on the use of human biological materials for research, specifically, Resolution CNS 441/11, enacted by National Health Council Brazil in May 2011, Guidelines Biorepositories Biobanks (Ordinance No. 2201) published Ministry September 2011. The authors examine differences between sample collections single studies large-scale multiple (e.g., Tumor Bank at Brazilian Cancer Institute A. C. Camargo Hospital Biobank). Also discussed are...
Lynch syndrome (LS) is a hereditary cancer-predisposing associated most frequently with epithelial tumors, particularly colorectal (CRC) and endometrial carcinomas (EC). The aim of this study was to investigate the relationship between sarcomas LS by performing clinical molecular characterization patients presenting co-occurrence tumors from spectrum. We identified 27 diagnosed CRC, EC, other LS-associated who had in same individuals or families. Germline genetic testing, mismatch repair...
Hereditary breast cancer (HBC) accounts for 5-10% of cases and it significantly increases the lifetime risk cancer. Our objective was to evaluate sociodemographic variables, family history cancer, (BC) screening practices profile affected or asymptomatic at-risk women that undergo genetic counseling hereditary in public Brazilian genetics services. Estimated BC calculated using Gail Claus models. The majority showed a moderate developing BC, with an average 19.7% 19.9% by models,...
Neuroendocrine tumours are a heterogeneous group of diseases with significant variety diagnostic tests and treatment modalities.Guidelines were developed by North American European groups to recommend their best management.However, local particularities relativisms found worldwide led us create Brazilian guidelines.Our consensus considered the feasible strategies in an environment involving more limited resources.We believe that our recommendations may be extended other countries similar...
espanolEn este estudio se analizan los resultados de la rehabilitacion aves rapaces silvestres admitidas en el Centro Rehabilitacion Fauna Silvestre Tafira isla Gran Canaria, Espana, desde 2003 hasta 2013, mediante un sistema auditoria calidad basado indices generales y clasificados (por causa admision) las cuatro categorias disposicion final, tiempo muerte permanencia como indicadores calidad. Las final fueron: eutanasia (Er ) = 19,78%, mortalidad no asistida durante hospitalizacion (Mr...
Tamoxifen efficacy in breast cancer is suspected to depend on adherence and intact drug metabolism. We evaluated the role of behavior pharmacogenetics formation rate (Z)-endoxifen. In 192 Brazilian patients, we assessed plasma levels tamoxifen its metabolites at 3, 6, 12 months treatment (liquid-chromatography tandem mass spectrometry), (Morisky, Green, Levine medication scale), cytochrome P450 2D6 (CYP2D6) other pharmacogene polymorphisms (matrix-assisted laser-desorption-ionization time...
Von Hippel-Lindau disease (VHL) (MIM 193300) is a heritable autosomal dominant characterised by predisposition to the development of combination benign and malignant tumours affecting multiple organs. The main features include retinal angiomas (RA), haemangioblastomas central nervous system (HB), clear cell renal carcinomas (RC), phaeochromocytomas (PH), pancreatic cysts, adenomas pancreas, neuroendocrine tumours, endolymphatic sac papillary cystadenomas epididymis broad ligaments.1–5...
In Brazil, genetic counseling is usually available in university-affiliated medical genetics services located tertiary centers that provide cancer diagnosis and treatment. The present study aims to describe the structure characteristics of three Brazilian public health care hospitals discuss alternatives for identification prevention hereditary syndromes developing countries. presented here are similar their structure, routine procedures risk estimation criteria indication testing. They all...
The decline of socio-ecological resilience has emerged as an unprecedented truth with high risks to local and global economies, thereby increasing the vulnerability businesses markets while potentially threatening wellbeing civil society a whole. From business perspective, corporate strategies towards sustainability are crucial strengthen social economic foundations that foster sustainable development. In order assist enterprises pursuing leading market positions, this work proposes set...
In Brazil, the population in general has little knowledge about genetic risks, as well regarding role and importance of Cancer Genetic Counseling (CGC). The goal this study was to evaluate cancer-related worry cancer risk perception during CGC sessions Brazilian women at-risk for hereditary breast cancer. This performed 264 individuals seeking Both cancer-affected unaffected were included. As results, with without reported different motivations undergoing testing. A correlation observed...
Adherence to treatment and use of co-medication, but also molecular factors such as CYP2D6 genotype, affect tamoxifen metabolism, with consequences for early breast cancer prognosis. In a prospective study 149 tamoxifen-treated early-stage patients from Brazil followed up 5 years, we investigated the association between active metabolite (Z)-endoxifen at 3 months event-free survival (EFS) adjusted clinico-pathological factors. Twenty-five (16.8%) had recurred or died median follow-up 52.3...