Caracterización molecular de pacientes con cáncer colorrectal y de endometrio y pesquisa de Síndrome de Lynch
Colorectal cancer (CRC) is the second cause of death from cancer in Argentina, with an estimated incidence of more than 13,000 new cases per year.The pathogenesis of CRC is complex and diverse and is influenced by multiple factors, some of which are related to diet and lifestyle and others are rela...
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| Autores principales: | , , , |
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| Publicado: |
2019
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| Acceso en línea: | https://bdigital.uncu.edu.ar/fichas.php?idobjeto=14910 |
| Sumario: | Colorectal cancer (CRC) is the second cause of death from cancer in Argentina, with an estimated incidence of more than 13,000 new cases per year.The pathogenesis of CRC is complex and diverse and is influenced by multiple factors, some of which are related to diet and lifestyle and others are related to genetic predisposition.3 and 8% of the cases are produced by heritable mutations in point genes and constitute the different syndromes of hereditary colorectal cancer. The most common of these is Lynch Syndrome or Non-Polyposis Hereditary Colorectal Cancer (CCHNP). Its pathogenesis is related to failures in the DNA mismatch repair system (MMR).Alterations in MMR may be due to mutations or silencing by methylation of these genes and lead to the accumulation of single nucleotide mutations and changes in the length of repetitive sequences, a phenomenon known as Microsatellite Instability (MSI).The evaluation of the presence or absence of MSI, methylation status and detection of deletions or duplications in MMR genes in tumor samples is useful in the differentiation of sporadic CCR of hereditary cases.The objective of the project is to evaluate the molecular characteristics of patients affected by CRC or endometrium cancer with clinical suspicion of Lynch Syndrome. To this , the MS-MLPA molecular technique for DNA repair genes (MMR) will be implemented and tumor samples with microsatellite instability (MSI) will be analyzed by MS-MLPA techniques for DNA repair genes. The results of the molecular studies will be correlated with clinical antecedents and anatomopathological and immunohistochemical studies of patients with clinical suspicion of Lynch Syndrome. With this information, protocols will be generated to improve the treatment and genetic counseling of patients with Lynch Syndrome according to the analyzes available in Mendoza.At least 40 patients diagnosed with colon or endometrial cancer will be included and evaluated for MSI and methylation profile analysis and deletions / duplications in DNA repair genes. The results will allow us to carry out the Lynch Syndrome research and collaborate with the genetic counseling of the patient and his family. |
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