Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.

doi:10.1016/j.cancergen.2021.02.003

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Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.

Cancer genetics - 1 Jun 2021

de Paula André Escremim, Galvão Henrique de Campos Reis, Bonatelli Murilo, Sabato Cristina, Fernandes Gabriela Carvalho, Berardinelli Gustavo Noriz, Andrade Carlos Eduardo Mattos, Neto Maximiliano Cadamuro, Romagnolo Luis Gustavo Capochim, Campacci Natalia, Scapulatempo-Neto Cristovam, Reis Rui Manuel, Palmero Edenir Inêz

Abstract excerpt

Lynch syndrome (LS), is the most common hereditary colorectal cancer syndrome. However, it is poorly characterized in Brazil. Therefore, we aimed to determine the spectrum of pathogenic variants in Mismatch Repair (MMR) genes and investigate the MLH1 promotor methylation role as a second hit in LS tumors. Tumor screening through microsatellite instability and immunohistochemistry for MMR proteins was performed in...

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PMID: 33647816
DOI: 10.1016/j.cancergen.2021.02.003

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