A5052752461- BRCA gene mutations in cancer
- Cancer-related Molecular Pathways
- Crystallization and Solubility Studies
- X-ray Diffraction in Crystallography
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Esophageal and GI Pathology
- Advanced Breast Cancer Therapies
- Glutathione Transferases and Polymorphisms
- Metal complexes synthesis and properties
- Click Chemistry and Applications
- Hedgehog Signaling Pathway Studies
- Alcohol Consumption and Health Effects
- Congenital Anomalies and Fetal Surgery
- Chronic Myeloid Leukemia Treatments
- Advanced biosensing and bioanalysis techniques
- Genetic Associations and Epidemiology
- Acute Lymphoblastic Leukemia research
- Folate and B Vitamins Research
Universidade Federal de Goiás
2017-2022
Institut des Sciences Biologiques
2019
Ru(<sc>ii</sc>)/2-mercaptopyrimidine complexes active against cancer cells did not present toxic effects during embryonic and larval development of zebrafish.
Objective: Breast cancer is the most common type of in world. In Brazil, there a high incidence Li-Fraumeni syndrome (LFS), one main syndromes related to development hereditary breast cancer. This study aimed identify prevalence variants TP53 gene probands suspected having LFS and their families. Methodology: We evaluated 123 patients who met National Comprehensive Cancer Networking criteria for syndromes, were referred Center Human Genetics/Universidade Federal de Goiás (UFG) by Hospital...
TP53 gene mutation is the most common genetic alteration in human malignant tumors and mainly responsible for Li-Fraumeni syndrome. Among several cancers related to this syndrome, breast cancer (BC) common. The p.R337H germline pathogenic variant highly prevalent Brazil’s South Southeast regions, accounting 0.3% of general population. We investigated prevalence variants a cohort 83 BC patients from Midwest Brazilian region. All met clinical criteria hereditary ovarian syndrome (HBOC) were...
Breast cancer is the second most common in world, and among women population, about 5% to 10% of cases are hereditary half them caused by breast ovarian (HBOC), variations BRCA1 BRCA2 genes.The present study aimed identify deletions duplications prevalence genes on patients Goiás, Brazil, was approved National Research Ethics Committee according with number CAAE 50626315.6.0000.5078.Were evaluated 46 cancer's who fulfilled Comprehensive Cancer Network (NCCN) criteria for HBOC syndrome...
CASE REPORTSa middle-aged man with acute intestinal obstruction due to an ileo-ileal intussusception of inverted Meckel's diverticulum a lipoma that was managed by laparoscopy.Worthy note is the very scarce number case reports on this exceeding uncommon association.
About 10‒15% of breast cancer cases are due to deleterious germ changes, more than half which located in the BRCA1 or BRCA2 genes. The screening variants these genes for patients at risk brings benefits better clinical management patient as well prevention disease recurrences both proband and their relatives. profile genetic is little known Brazilian population and, date, there no published data central region country. This study aimed analyze pathogenic (VP) uncertain significance (VUS)...
Objective: We investigate the prevalence of TP53 germline pathogenic variants in a cohort 83 breast cancer patients and 217 family members from Midwest Brazilian region. Methods: All met clinical criteria for hereditary ovarian syndrome (HBOC) were negative BRCA1 BRCA2 mutations. Moreover, 40 index fulfilled HBOC Li-Fraumeni-like syndromes (LFL) criteria. The samples tested using next-generation sequencing TP53. Results: Three harbored missense (p.Arg248Gln, p.Arg337His, p.Arg337Cys),...
Introduction: Breast cancer is the most frequent type of in world and biggest cause female deaths. About 10%–15% cases are due to hereditary factors. The profile genetic variants still scarcely known among Brazilian population there no published data for central region country. Objectives: This study aimed analyze pathogenic (PV) ones uncertain significance (VUS) RAD50, RAD51C, RAD51D, ATM, PALB2, BRIP1, BARD1 CHEK2 genes this population. Methods: 113 patients diagnosed with breast or...
Patients with pathogenic variants (PV) in the BRCA1 and BRCA2 genes have hereditary breast ovarian cancer syndrome (HBOC). Some patients HBOC a family history (FH) of different types not related to syndrome. The objective this study was observe FH profile A total 123 treated at Advanced Breast Diagnostic Center (CORA) clinical criteria suggestive were selected according National Comprehensive Cancer Network (NCCN). collection 4 ml blood performed, which subjected DNA extraction PV analysis...