Análise de genes associados à deposição de gordura em bovinos da raça Nelore

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Polimorfismo dos genes IGF2, PMCH e RORC em bovinos Nelore e cruzados: variabilidade e relação com características da carcaça e da carne

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Resistência aos beta-lactâmicos e detecção dos genes blashv, blatem, blactx-m e blages em Enterobacteriaceae isoladas de efluentes hospitar e comunitário em um município do noroeste paulista

Pós-graduação em Microbiologia - IBILCE

Polimorfismo dos genes ABO, Lewis e Secretor correlacionados com o câncer de mama

Pós-graduação em Biociências e Biotecnologia Aplicadas à Farmácia - FCFAR

Expressão de genes relacionados ao ciclo celular e proteção da mucosa gástrica em metaplasia intestinal e ulcera gástrica em comparação com câncer gástrico

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Identificação e validação de genes diferencialmente expressos em carcinoma de pênis

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Genes de efeito principal e locos de características quantitativas (QTL) em suínos

Pós-graduação em Zootecnia - FMVZ

Single Origin of Sex Chromosomes and Multiple Origins of B Chromosomes in Fish Genus Characidium

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Single nucleotide polymorphisms in candidate genes associated with gastrointestinal nematode infection in goats

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Prevalence of the germline TP53 p.R337H mutation in families with multiple cases of cancer

Germline mutations in TP53 gene are associated with Li-Fraumeni syndrome (LFS) and its variants Li-Fraumeni-like (LFL). They predispose carriers to a wide variety of early onset tumors. In Brazil, there is a high frequency of a germline mutation in this gene (NC_000017.9: c.1010G>A; p.R337H) in Southern and Southeastern regions, due to a founder effect. It is estimated to be present in 0,3% ofthe local population, but only few families have been detected. Due to this significant divergence, the purpose of this study was to verify the effectiveness of wider criteria for detection of these individuals. Herein, clinical criteria were established, DNA samples were collected, analyzed by Restriction Fragment Length Polymorphism (RFLP) and sequenced. Thus, assessing the prevalence of this mutation in families with multiple cases of cancer. Based on our proposed criteria, one out of 31 patients (3,22%) was found to carry p.R337H mutation. The patient developed ductal invasive breast cancer at age 47, invasive adenocarcinoma of the lung at age 48 and soft-tissue sarcoma at age 49. In addition, an extensive cancer family history was referred, atypical for LFS, including a case of Ewing’s sarcoma. These outcomes indicate that the proposed criteria may detect probable carriers who did not fit previous LFS criteria. Nevertheless, additional studies, which might include a larger number of families and more stringent parameters, will be useful to improve screening sensibility

Genomic alterations in patients showing multiple primary tumors and family history of cancer

Multiple primary tumors (MPT) are a major cause of mortality and morbidity among patients that have survived after the treatment of a first cancer. It has been proposed that after the first primary tumor, high risk of a subsequent tumor could be associated with radiotherapy used as treatment for the first cancer. Other potential risk factors include unhealthy lifestyle, genetic predisposition, aging, environmental determinants or an interaction between these factors. However, an association between the presence of MPT and family history of cancer in cases without clinical and molecular evidence of a known hereditary cancer syndrome is rarely described. Genomic DNA from 12 patients with at least two primary tumors and without mutations on TP53 was evaluated by CytoScan HD Array (Affymetrix). Chromosome Analysis Suite (ChAS) software v.2.0.1 was used considering at least 50 markers for gains; 25 for losses and a minimum of 5Mb for cnLOHs. Data from 1038 phenotypically healthy individuals (Affymetrix) and from Database of Genomic Variants were used as reference. Only alterations found in <1% (rare) or never described (new rare) in the reference population were considered. All cases, except one, presented a family history of cancer. Five cases developed MTP after radiotherapy and only one was located in the same treated area. It was detected 67 rare and 15 new rare genomic alterations encompassing 5.906 genes: 17 losses, 29 gains, and 36 cnLOH. X chromosome presented the higher number of alterations. Two patients with breast cancer presented a large deletion/cnLOH on 7q21. Enrichment analysis revealed 1275 genes associated with breast cancer (p= 0.001), which was diagnosed in 6 patients and their family members (all negative for BRCA1/2 or TP53 mutations). cnLOHs accounted for 44% of all the alterations. A significant proportion of cases (11/12) presented family history of cancer and the patients were not submitted to radiotherapy (7/12). We demonstrated the presence of rare genomic alterations in patients with MPT suggesting their involvement in the MPT development. cnLOH may arise as a new mechanism associated with the risk to develop MPT. All authors have declared no conflicts of interest.

Down-regulation of protease activated receptor 2, interleukin-17 and other pro-inflammatory genes by subantimicrobial doxycycline dose in a rat periodontitis model

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Prospecting major genes in dairy buffaloes

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Estudo citogenético em aranhas (Mygalomorphae e Araneomorphae) com ênfase na evolução dos genes de DNA ribossômico

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Genes associados à virulência e multirresistência de antimicrobianos em linhagens Trueperella Pyogenes isoladas de mastite e outras afecções em animais domésticos

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)