A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study.
- Author:
Qiao-Qi SUI
1
;
Wu JIANG
1
;
Xiao-Dan WU
1
;
Yi-Hong LING
2
;
Zhi-Zhong PAN
1
;
Pei-Rong DING
1
Author Information
- Publication Type:Letter
- Keywords: Lynch syndrome; DNA mismatch repair; Frameshift mutation
- MeSH: Adult; Asian People/genetics*; China; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics*; Exons; Female; Frameshift Mutation; Germ-Line Mutation; Humans; Male; MutL Protein Homolog 1/genetics*; MutL Proteins/genetics*; Pedigree
- From: Journal of Zhejiang University. Science. B 2019;20(1):105-108
- CountryChina
- Language:English
- 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.
