A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study / 浙江大学学报(英文版)(B辑:生物医学和生物技术)
Journal of Zhejiang University. Science. B
; (12): 105-108, 2019.
Article
in En
| WPRIM
| ID: wpr-1010447
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Pedigree
/
Colorectal Neoplasms, Hereditary Nonpolyposis
/
China
/
Exons
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Frameshift Mutation
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Germ-Line Mutation
/
Asian People
/
MutL Proteins
/
MutL Protein Homolog 1
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Journal of Zhejiang University. Science. B
Year:
2019
Document type:
Article