Giovana Tardin Torrezan

• Abstract

  Recent advances in genomics have enabled the recognition of several novel cancer predisposing genes. Although genetic screening is currently well established for more common hereditary cancers, there is a number of rare tumors (annual incidence of less than 6 per 100,000 individuals) that are highly associated with cancer syndromes, but are often neglected due to its infrequency. The iden…

  Genomic drivers of pediatric and early-onset solid tumors, AP.R SPRINT

• Abstract

  Recent advances in genomics have enabled the recognition of several novel cancer predisposing genes. Although genetic screening is currently well established for more common hereditary cancers, there are a number of very rare tumors (annual incidence of less than 6 per 100,000 individuals) that are highly associated with cancer syndromes, but are often neglected due to its infrequency. Th…

  Combining genomic approaches to determine the genetics causes of rare cancers in children, adolescents and young adults, AP.R

• Abstract

  MUTYH-Associated Polyposis (MAP) is an autosomal recessive disease caused by alterations in the MUTYH gene, accounting for 0.7% of all colorectal cancers (CRC) and 13% of colorectal polyposis. The MUTYH gene is part of the DNA base excision repair system and, when mutated, leads to G:C - T:A transversions in several genes, including KRAS, often generating the somatic mutation c.34G>T; G12…

  Evaluation of germline alterations in MUTYH in patients with colorectal Cancer and KRAS G12C somatic mutation, BP.IC

• Abstract

  Currently, the genetic diagnosis of individuals at risk for hereditary cancer predisposition syndromes (HCPS) is carried out through the sequencing of a new generation of multigenic panels containing from ten to a hundred cancer predisposition genes (GPC). Recent studies in the literature and in our group show that a small portion of patients with SPHC has pathogenic / probably pathogenic…

  Molecular and phenotypic evaluation of individuals and families with multilocus inherited Neoplasia alleles Syndrome, BP.IC

• Abstract

  Recently, a study of our group evaluated the occurrence of sarcomas in a suspected Lynch Syndrome (LS) cohort and identified three patients in whom the tumor etiology was associated with this syndrome. In this study, we identified another eleven patients as having sarcomas and colorectal tumors in the same individual or in individuals from the same family. Thus, the present study aims to …

  Clinical and molecular assessment of patients with sarcomas and suspected for Lynch Syndrome, BP.IC

(Only some records are available in English at this moment)