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Amplicon-based NGS test for assessing MLH1 promoter methylation and its correlation with BRAF mutation in colorectal cancer patients.

Experimental and molecular pathology - 1 Apr 2023

da Silva Sara Iolanda Oliveira, Domingos Tabata Alves, Kupper Bruna Elisa Catin, De Brot Louise, Aguiar Junior Samuel, Carraro Dirce Maria, Torrezan Giovana Tardin

Abstract excerpt

Detecting MLH1 promoter methylation is highly relevant to differentiate between possible Lynch syndrome patients or patients with sporadic causes of MLH1/PMS2 deficiency in colorectal (CRC) and endometrial cancers. Here, we aimed to develop a test for assessing MLH1 promoter methylation based in next generation sequencing (NGS), and to evaluate the concordance of MLH1 methylation and BRAF-V600 mutation status in...

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Share to Colorectal Neoplasms
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mismatch Repair Endonuclease PMS2

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Share to Proto-Oncogene Proteins B-raf

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Identifiers

PMID: 36736685
DOI: 10.1016/j.yexmp.2023.104855

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