A5086204990- Cancer-related Molecular Pathways
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Hedgehog Signaling Pathway Studies
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Glioma Diagnosis and Treatment
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Ocular Oncology and Treatments
- Genomics and Rare Diseases
- Cutaneous Melanoma Detection and Management
- Chromatin Remodeling and Cancer
- Cancer, Hypoxia, and Metabolism
- Ovarian cancer diagnosis and treatment
- Ubiquitin and proteasome pathways
- Pituitary Gland Disorders and Treatments
- Prenatal Screening and Diagnostics
- Genomics and Chromatin Dynamics
- Advanced Breast Cancer Therapies
- Cancer Research and Treatments
- Adrenal and Paraganglionic Tumors
- Cancer and Skin Lesions
- Childhood Cancer Survivors' Quality of Life
Hospital Sírio-Libanês
2018-2025
Hospital São Paulo
2011-2024
Insper
2023-2024
AC Camargo Hospital
2011-2023
National Institutes of Health
2017-2019
National Cancer Institute
2017-2019
Division of Cancer Epidemiology and Genetics
2018-2019
University of Washington
2018
Washington Center
2018
Palmetto Hematology Oncology
2016
To develop recommendations for germline mutation testing patients with breast cancer.
Due to patterns of migration, selection, and population expansion, founder effects are common among humans. In Southern Brazil, a recurrent TP53 mutation, p.R337H, is detected in families with cancer predisposition. We have used whole locus resequencing high-density single nucleotide polymorphism (SNP) genotyping refine haplotype definitions. Haplotyping 12 unrelated p.R337H carriers using set 29 tag SNPs, revealed that all subjects carried the same haplotype, presence mutation on this was...
To investigate molecular alterations in choroid plexus tumors (CPT) using a genome-wide high-throughput approach to identify diagnostic and prognostic signatures that will refine tumor stratification guide therapeutic options.One hundred CPTs were obtained from multi-institutional tissue clinical database. Copy-number (CN), DNA methylation, gene expression assessed for 74, 36, 40 samples, respectively. Molecular subgroups correlated with parameters outcomes.Unique distinguished carcinomas...
<h3>Importance</h3> Li-Fraumeni syndrome is a cancer predisposition that associated with high, lifelong risk of broad spectrum cancers caused by pathogenic<i>TP53</i>germline variants. A definition reflects the phenotypic has evolved since gene discovery lacking, and mechanisms leading to differences remain largely unknown. <h3>Objective</h3> To define conduct phenotype-genotype associations across spectrum. <h3>Design, Setting, Participants</h3> We analyzed classified germline variant data...
Germline mutations in BRCA1, BRCA2 and TP53 genes have been identified as one of the most important disease-causing issues young breast cancer patients worldwide. The specific defective biological processes that trigger germline mutation-associated -negative tumors remain unclear. To delineate an initial portrait Brazilian early-onset cancer, we performed investigation combining both tumor analysis. screening BRCA2, CHEK2 (c.1100delC) was 54 unrelated <35 y; their were investigated with...
Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated predisposition cancers such as neuroblastomas well prostate and colorectal We evaluated role germline CNVs susceptibility, particular those low population frequencies (rare CNVs), which are more likely cause disease."Using whole-genome comparative genomic...
Reports of variable cancer penetrance in Li–Fraumeni syndrome (LFS) have raised questions regarding the prevalence pathogenic germline TP53 variants. We previously reported higher-than-expected population estimates sequencing databases composed individuals unselected for history. This study aimed to expand and further evaluate likely variants gnomAD dataset (version r2.0.2, n = 138,632). Variants were selected classified based on our published algorithm compared with alternative three...
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 detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation clinical management strategies, Brazil, there limited access these services, mainly due costs/availability genetic testing. Aiming at identification recurrent that could be included a low-cost mutation panel, used as first screening approach, we compiled testing reports 649 probands with pathogenic/likely pathogenic variants referred 28 public private health care centers distributed across 11 Brazilian...
Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation p.R337H is detected in 0.3% of the general population southern Brazil. This an increased risk childhood adrenal cortical carcinoma (ACC) but also common Brazilian LFS/LFL families. Breast Cancer (BC) one most diagnosed carriers. We have assessed prevalence two groups: (1) 59 BC affected women a familial history (FH) suggestive...
Li-Fraumeni and Li-Fraumeni-like syndromes (LFS/LFL), characterised by the development of multiple early onset cancers with heterogeneous tumour patterns, are associated germline TP53 mutations. Polymorphisms in pathway (TP53 PEX4 at codon 72, rs1042522; MDM2 SNP309, rs2279744) have modifier effects on mutations that may account for individual familial diversity patterns.Four polymorphisms were analysed a series 135 Brazilian LFS/LFL cancer patients (32 mutation carriers 103 wild-type...