A5016014238- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- CRISPR and Genetic Engineering
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Electric Power System Optimization
- Vascular Tumors and Angiosarcomas
- Sarcoma Diagnosis and Treatment
- Gestational Trophoblastic Disease Studies
- Biotechnology and Related Fields
- Genetic Syndromes and Imprinting
- Viral-associated cancers and disorders
- Prenatal Screening and Diagnostics
- Ovarian cancer diagnosis and treatment
Hospital de Câncer de Barretos
2016-2020
Hospital São Paulo
2018-2020
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...
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...
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...
Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but later also found other populations. In Brazil, this corresponds to 20% of variants reported. Our objective investigate haplotype component group Brazilian families who inherited gene and verify ancestry contribution from European, African, Amerindian origins. Fourteen...
Sarcomas represent less than 1% of all solid neoplasms in adults and over 20% children. Their etiology is unclear, but genetic susceptibility plays an important role this scenario. Sarcoma central Li-Fraumeni Syndrome (LFS), a familial predisposition cancer syndrome. In Brazil, the high prevalence p.Arg337His mutations TP53 gene brings about unique condition: cluster LFS. present work, we studied 502 sarcoma patients not selected by age or family history attempt to assess impact so-called...
The use of gene panels introduces a new dilemma in the genetics field due to high frequency variants uncertain significance (VUS). objective this study was provide evidence that may help classification these germline terms their clinical impact and association with disease question. A total 52 unrelated women at-risk for HBOC negative BRCA1/BRCA2 pathogenic were evaluated through panel comprising 14 breast and/or ovarian cancer susceptibility genes. Of 453 identified, 15 (classes 3, 4, 5)...
// Paula Silva Felicio 1 , Matias Eliseo Melendez Lidia Maria Rebolho Batista Arantes Ligia Kerr 1, 2 Dirce Carraro 3 Rebeca Silveira Grasel Natalia Campacci Cristovam Scapulatempo-Neto Gabriela Carvalho Fernandes Ana Carolina de Edenir Inêz Palmero Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil Department of Pathology, International AC Camargo São Paulo, Correspondence to: Palmero, email: edenirip@yahoo.com.br Keywords: hereditary breast cancer,...
About 5-10% of breast/ovarian cancers are hereditary. However, for a large proportion cases (around 50%), the genetic cause remains unknown. These grouped in separated BRCAX category. The aim this study was to identify genomic alterations BRCA1/BRCA2 wild-type tumor samples from women with family history strongly suggestive hereditary cancer.A cohort 31 Brazilian included study. Using GISTIC algorithm, we identified 20 regions gains and losses. most frequent altered were 1q21.2, 6p22.1...
The identification of families at-risk for hereditary breast cancer (BC) is important because affected individuals present a much higher risk than the general population. aim this study was to identify most factors associated with presence pathogenic BRCA1/BRCA2 mutation. Family history (FH), histopathological and immunohistochemical characteristics were compared among BC women variants; VUSs in BRCA1/BRCA2; WT sporadic BC. significative differences observed concerned molecular subtype...