Search Results - "Sabato, Cristina da Silva"
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Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome
Published in Cancers (31-08-2022)“…Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, characterized by germline pathogenic variants in mismatch repair…”
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Clinical and Molecular Characterization of Surgically Treated Oropharynx Squamous Cell Carcinoma Samples
Published in Pathology oncology research (01-07-2019)“…A better understanding of the clinical and molecular features of oropharyngeal squamous cell carcinomas (OPSCC) may help in the development of strategies for a…”
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New insights on familial colorectal cancer type X syndrome
Published in Scientific reports (18-02-2022)“…Familial colorectal cancer type X (FCCTX) is a heterogeneous colorectal cancer predisposition syndrome that, although displays a cancer pattern similar to…”
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The Brazilian TP53 mutation (R337H) and sarcomas
Published in PloS one (01-01-2020)“…Sarcomas represent less than 1% of all solid neoplasms in adults and over 20% in children. Their etiology is unclear, but genetic susceptibility plays an…”
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Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients
Published in Frontiers in oncology (02-10-2020)“…The use of gene panels introduces a new dilemma in the genetics field due to the high frequency of variants of uncertain significance (VUS). The objective of…”
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Abstract A36: Clinical and molecular characterization of oropharynx squamous cell carcinoma samples
Published in Clinical cancer research (01-01-2018)“…Abstract Background: Oropharynx squamous cell carcinomas (OPSCC) associated with high-risk human papilloma virus (HR-HPV) infection represent a distinct…”
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The Brazilian TP53 mutation
Published in PloS one (24-01-2020)“…Sarcomas represent less than 1% of all solid neoplasms in adults and over 20% in children. Their etiology is unclear, but genetic susceptibility plays an…”
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Journal Article