Article
MLH1 Exon 12 Gene Deletion Leading to Lynch Syndrome: A Case Report.
Oncology research and treatment - 1 Jan 2021
Cui Shiyun, Zhang Xiao, Zou Ruihan, Ye Fan, Wang Yutong, Sun Jing
Abstract excerpt
INTRODUCTION: Deleterious heterozygous mutation of the MLH1 gene is an important cause of Lynch syndrome (LS), an autosomal dominant cancer caused by functional defects in the DNA mismatch repair (MMR) complex. CASE REPORT: The proband was a 35-year-old patient with confirmed colorectal cancer (CRC). Immunohistochemical (IHC) staining revealed the absence of MLH1 and PMS2 expression in the colorectal tissue...
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