Edenir Inêz Palmero
A5066723346- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer-related Molecular Pathways
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Women's cancer prevention and management
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- CRISPR and Genetic Engineering
- Global Cancer Incidence and Screening
- Cancer Risks and Factors
- Hedgehog Signaling Pathway Studies
- Colorectal Cancer Screening and Detection
- Colorectal Cancer Treatments and Studies
- Childhood Cancer Survivors' Quality of Life
- Epigenetics and DNA Methylation
- Ubiquitin and proteasome pathways
- MicroRNA in disease regulation
- Breast Cancer Treatment Studies
- Cancer and Skin Lesions
- Science and Education Research
- Family Support in Illness
- Ethics and Legal Issues in Pediatric Healthcare
- Sarcoma Diagnosis and Treatment
Instituto Nacional do Câncer
2021-2024
Hospital de Câncer de Barretos
2015-2024
DASA (Brazil)
2022-2023
CS Diagnostics
2022
Hospital São Paulo
2013-2021
Universidade Federal do Rio Grande do Sul
2003-2020
Hospital Erasto Gaertner
2020
Instituto Barretos de Tecnologia
2018
Pfizer (United Kingdom)
2018
AstraZeneca (Brazil)
2018
The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...
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...
MicroRNAs are key regulators of various fundamental biological processes and, although representing only a small portion the genome, they regulate much larger population target genes. Mature microRNAs (miRNAs) single-stranded RNA molecules 20-23 nucleotide (nt) length that control gene expression in many cellular processes. These typically reduce stability mRNAs, including those genes mediate tumorigenesis, such as inflammation, cell cycle regulation, stress response, differentiation,...
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...
There are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) especially Brazil, largest most populated country in LA.Of 349 probands analyzed, 21.5% were BRCA1/BRCA2 mutated, 65.3% at BRCA1 34.7% BRCA2 gene. The mutation c.5266dupC (former 5382insC) was frequent alteration, representing 36.7% mutations 24.0% all identified. Together with c.3331_3334delCAAG mutation, these constitutes 35% identified more than...
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...
To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants the MMR genes PLSD and IMRC cohorts, which only former included mandatory colonoscopy surveillance for all participants.
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...
Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast syndromes, where specific interventions can be proposed reduce risk, has become increasingly relevant. A previous study in Southern Brazil shown that family history suggestive these syndromes may prevalent at primary care level. Development simple sensitive instrument, easily applicable units, would particularly helpful underserved communities...
Abstract Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs in families with a history of breast/ovarian cancer, presenting an autosomal dominant inheritance pattern. BRCA1 BRCA2 are high penetrance genes associated increased risk up to 20-fold for breast ovarian cancer. However, only 20–30% HBOC cases present pathogenic variants those genes, other DNA repair have emerged as increasing the HBOC. In Brazil, ATM, ATR, CHEK2, MLH1, MSH2, MSH6, POLQ, PTEN, TP53 been...
The XAF1 -E134* variant increases the cancer risk for carriers of TP53 -R337H allele.
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...
BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge the PSV distribution in African descent individuals is poorly understood. We undertook a systematic review published literature publicly available databases reporting also accessed Consortium Investigators Modifiers (CIMBA) database to identify or Using these data, we inferred which BRCA were likely be...
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that characterized medullary thyroid carcinoma (MTC) associated with other tumors. Several reports have demonstrated the mutation profile may vary according to geographical area. In this study, we collected clinical and molecular data from 554 patients surgically confirmed MTC 176 families MEN2 in 18 different Brazilian centers compare prevalence of those countries. The...
Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular mismatch repair (MMR) variants spectrum of patients with suspected LS America.Eleven hereditary cancer registries 34 published databases were used identify unrelated families that fulfilled Amsterdam II (AMSII) criteria and/or Bethesda guidelines or suggestive a dominant colorectal (CRC) inheritance syndrome.We performed...
Germline TP53 mutations predispose to multiple cancers defining Li-Fraumeni/Li-Fraumeni-like syndrome (LFS/LFL), a disease with large individual disparities in cancer profiles and age of onset. G-quadruplexes (G4s) are secondary structural motifs occurring guanine tracks, regulatory effects on DNA RNA. We analyzed 85 polymorphisms within or near five predicted G4s search modifiers penetrance LFS/LFL Brazilian families (n = 35) without 110) mutations. Statistical analyses stratified family...
Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available the public health care system. We compiled data from publications hereditary cancer registries to characterize mutation spectrum America. In total, 267 families that fulfilled Amsterdam criteria and/or Bethesda guidelines Argentina, Brazil, Chile, Colombia Uruguay were included. Disease-predisposing mutations identified 37% of affected MLH1 60% MSH2...
Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which associated with the Hereditary Breast Ovarian Cancer (HBOC) syndrome, most frequently affected Recent studies confirm that gene rearrangements, especially BRCA1, responsible for a significant proportion certain populations. In this study we determined prevalence BRCA rearrangements 145 unrelated Brazilian individuals at risk HBOC syndrome who had...