A5055599023- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Sarcoma Diagnosis and Treatment
- Renal and related cancers
- Cholangiocarcinoma and Gallbladder Cancer Studies
- DNA Repair Mechanisms
- Lung Cancer Treatments and Mutations
- Renal cell carcinoma treatment
- Cutaneous Melanoma Detection and Management
- Colorectal Cancer Treatments and Studies
- Soft tissue tumor case studies
- Genomics and Rare Diseases
- Colorectal Cancer Screening and Detection
- Ovarian cancer diagnosis and treatment
- Neuroendocrine Tumor Research Advances
- CRISPR and Genetic Engineering
- Nutrition, Genetics, and Disease
- Pancreatic and Hepatic Oncology Research
- Uterine Myomas and Treatments
- Neuroblastoma Research and Treatments
- Glioma Diagnosis and Treatment
- Lung Cancer Research Studies
- Genomic variations and chromosomal abnormalities
- Melanoma and MAPK Pathways
AC Camargo Hospital
2016-2025
Ministry of Science, Technology and Innovation
2024
Rambam Health Care Campus
2023
Anna Needs Neuroblastoma Answers
2023
Genomic (Brazil)
2013-2022
Universidade de São Paulo
2018
Hospital São Paulo
2011-2013
Universidade Federal do Paraná
2008-2009
Wilms tumour (WT) is an embryonal kidney neoplasia for which very few driver genes have been identified. Here we identify DROSHA mutations in 12% of WT samples (26/222) using whole-exome sequencing and targeted 10 microRNA (miRNA)-processing genes. A recurrent mutation (E1147K) affecting a metal-binding residue the RNase IIIb domain detected 81% DROSHA-mutated tumours. In addition, non-recurrent other this pathway (DGCR8, DICER1, XPO5 TARBP2). By assessing miRNA expression pattern...
Abstract Diffuse midline glioma, H3 K27-altered (DMG-H3 K27) is an aggressive group of diffuse gliomas that predominantly occurs in pediatric patients, involves structures, and displays loss p.K28me3 (K27me3) expression by immunohistochemistry characteristic genetic/epigenetic profile. Rare examples a glioma with p.K28M (K27M) mutation without involvement the so-called “diffuse hemispheric mutation” (DHG-H3 K27), have been reported. Herein, we describe 2 additional cases radiologically...
Germ line mutations in BRCA1 and BRCA2 (BRCA1/2) other susceptibility genes have been identified as genetic causes of hereditary breast ovarian cancer (HBOC). To identify the disease-causing a cohort 120 Brazilian women fulfilling criteria for HBOC, we carried out comprehensive screening BRCA1/2, TP53 R337H, CHEK2 1100delC, followed by an analysis copy number variations 14 additional (PTEN, ATM, NBN, RAD50, RAD51, BRIP1, PALB2, MLH1, MSH2, MSH6, TP53, CDKN2A, CDH1 CTNNB1). Capillary...
The current study aimed to identify new breast and/or ovarian cancer predisposition genes. For that, whole-exome sequencing (WES) was performed in the germline DNA of 52 non-BRCA1/BRCA2/TP53 mutation carrier women at high-risk for hereditary and (HBOC). All variants were classified using information from population disease specific databases, silico prediction tools American College Medical Genetics Genomics (ACMG) criteria. Loss heterozygosity (LOH) tumor samples segregation analyses...
Abstract Background Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH . -mutated patients present classic or attenuated familial adenomatous polyposis (FAP/AFAP), while carrying biallelic exhibit MUTYH-associated (MAP). The spectrum of as well the genotype-phenotype correlations syndromes clinical impact can be population specific, making important to obtain genetic data from different populations. Methods DNA sequencing...
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...
Genome-wide profiling of rare tumors is crucial for improvement diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) a type sarcoma arising from mesenchymal cells abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting EWS WT1 gene fusion the only recurrent molecular hallmark no other genetic factor has been associated to this aggressive tumor. Here, we...
Lynch syndrome (LS) accounts for 3–5% of all colorectal cancers (CRC) and is inherited in an autosomal dominant fashion. This characterized by early CRC onset, high incidence tumors the ascending colon, excess synchronous/metachronous extra-colonic tumors. Nowadays, LS regarded patients who carry deleterious germline mutations one five mismatch repair genes (MMR), mostly MLH1 MSH2, but also MSH6, PMS1 PMS2. To comprehensively characterize 116 Brazilian suspected LS, we assessed frequency...
Folate, vitamin B2, B6, B12, choline, and betaine are nutrients involved in the 1-carbon cycle that can alter levels of DNA methylation influence genesis and/or tumor progression. Thus, objective this study was to evaluate association folate vitamins MTHFR polymorphisms global patients with colorectal cancer gene. The included 189 adenocarcinoma answering a clinical evaluation questionnaire Food Frequency Questionnaire (FFQ) validated for colon rectal cancer. Blood samples were collected...
BRCA1/2 pathogenic (P) and likely (LP) germline variants are frequent among patients with ovarian carcinoma. However, these have not been extensively characterized in cancer Brazil. In this retrospective study we evaluated clinical characteristics genetic test results from carcinoma who underwent counseling at A.C.Camargo Cancer Center (Brazil) between 2015 2017 had performed testing of genes. Among 158 patients, 33 P LP were found (20.8%), 27 BRCA1 six BRCA2, unknown significance (VUS)....
Pathogenic variants in known breast cancer (BC) predisposing genes explain only about 30% of Hereditary Breast Cancer (HBC) cases, whereas the underlying genetic factors for most families remain unknown. Here, we used whole-exome sequencing (WES) to identify associated HBC 17 patients Brazil with familial BC and negative causal major risk (BRCA1/2, TP53 CHEK2 c.1100delC). First, searched rare 27 identified two harboring truncating pathogenic ATM BARD1. For remaining 15 patients, found a...
Clinical Practice Points•Lung cancer represents around 3.6% of all Li-Fraumeni syndrome–associated tumors. A high prevalence p.R337H germline mutation in the TP53 gene has been observed Brazil and family histories associated with this variant range from isolated cases to families fulfilling Li-Fraumeni–like or criteria. We evaluated frequency EGFR mutations lung adenocarcinoma (LA) diagnosed Brazilian patients carrying founder p.R337H, as well among LA mutation.•Patients were selected a...
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...
Detecting MLH1 promoter methylation is highly relevant to differentiate between possible Lynch syndrome patients or with sporadic causes of MLH1/PMS2 deficiency in colorectal (CRC) and endometrial cancers. Here, we aimed develop a test for assessing based next generation sequencing (NGS), evaluate the concordance BRAF-V600 mutation status CRC. For that, performed series experiments DNA from tumor, saliva commercial control samples our house developed amplicon-based NGS test. In patients'...
Abstract Background MUTYH -associated polyposis (MAP) is a recessive, hereditary, colorectal cancer-predisposing syndrome caused by biallelic mutations in the gene. Most pathogenic variants are missense mutations, and until recently no gross genomic deletions had been described. Case Presentation We have identified large deletion gene: > 4.2 kb encompassing exons 4-16. This second description of this rearrangement, which has described as first The clinically suspected MAP patient was...
Gardner's syndrome (GS) is a genetic disorder characterised by intestinal polyps, multiple osteomas, and soft-tissue tumours. Dentists play an important role in the diagnosis considering that craniomaxillofacial osteomas are major criteria for diagnosis. This study aimed to describe main stomatological manifestation of GS importance dentists its Two patients presenting were evaluated. The first one had two mandible was suspected. colonoscopy confirmed presence polyposis prophylactic...