A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study

Qiao Qi Sui, Wu Jiang, Xiao Dan Wu, Yi Hong Ling, Zhi-Zhong Pan, Pei Rong Ding

Research output: Contribution to journalArticle

Abstract

Lynch syndrome (LS), an autosomal dominantly inherited disease previously known as hereditary non-polyposis colorectal cancer (HNPCC), leads to a high risk of colorectal cancer (CRC) as well as malignancy at certain sites including endometrium, ovary, stomach, and small bowel (Hampel et al., 2008; Lynch et al., 2009). Clinically, LS is considered the most common hereditary CRC-predisposing syndrome, accounting for about 3% of all CRC cases (Popat et al., 2005). LS is associated with mutations of DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM (Ligtenberg et al., 2009; Lynch et al., 2009), which can trigger a high frequency of replication errors in both microsatellite regions and repetitive sequences in the coding regions of various cancer-related genes. Immunohistochemistry (IHC) tests followed by genetic analysis of these mutations play a significant role in diagnosis, treatment determination, and therapeutic response prediction of LS (Lynch et al., 2009; Alex et al., 2017; Ryan et al., 2017). Here, we report substitution of one base-pair in exon 1 of MLH3 (c.1397C>A) and a frameshift mutation in exon 19 of MLH1 (c.2250_2251ins AA) in a 43-year-old Chinese male with an LS pedigree.

LanguageEnglish (US)
Pages105-108
Number of pages4
JournalJournal of Zhejiang University. Science. B
Volume20
Issue number1
DOIs
StatePublished - Jan 1 2019

Fingerprint

frameshift mutation
Hereditary Nonpolyposis Colorectal Neoplasms
Frameshift Mutation
Pedigree
colorectal neoplasms
pedigree
exons
Exons
Genes
Colorectal Neoplasms
Nucleic Acid Repetitive Sequences
Microsatellite Repeats
Repair
Substitution reactions
mutation
repetitive sequences
endometrium
DNA
Mutation
DNA Mismatch Repair

Keywords

  • Lynch syndrome; DNA mismatch repair; Frameshift mutation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • veterinary(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

Cite this

A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family : a pedigree study. / Sui, Qiao Qi; Jiang, Wu; Wu, Xiao Dan; Ling, Yi Hong; Pan, Zhi-Zhong; Ding, Pei Rong.

In: Journal of Zhejiang University. Science. B, Vol. 20, No. 1, 01.01.2019, p. 105-108.

Research output: Contribution to journalArticle

Sui, Qiao Qi ; Jiang, Wu ; Wu, Xiao Dan ; Ling, Yi Hong ; Pan, Zhi-Zhong ; Ding, Pei Rong. / A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family : a pedigree study. In: Journal of Zhejiang University. Science. B. 2019 ; Vol. 20, No. 1. pp. 105-108.
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