A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level
Joint Authors
Zhang, Yanni
Chen, Huishuang
Peng, Zhiyu
Banerjee, Santasree
Li, Wei
Zhao, Zhaolong
Sun, Jianbin
Lv, Jian
Huang, Hui
Bai, Ru
Lin, Keke
Li, Zhongxin
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-11-14
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Lynch syndrome is a genetically and clinically heterogeneous disorder; it is caused by a germline mutation in DNA mismatch repair (MMR) genes.
Individuals with a heterozygous mutation in MLH1 have an increased risk for developing colorectal cancer.
Here we described a 5-generation Chinese Lynch syndrome family with different severity and onset age.
A novel heterozygous germline mutation (c.3G>T, p.Met1Ile) in MLH1 gene was discovered by next generation sequencing.
Our study also revealed by qPCR that the MLH1 mRNA expression in peripheral blood of patients in this family was remarkably lower than that of the unaffected carriers and non-carriers.
The research results indicated that the mRNA expression level may provide predictive suggestions of treatment and management for carriers with the initiation codon mutation of MLH1 in this family.
Further studies are undertaken in this family as well as other families with Lynch syndrome to interrogate the exact reasons affecting the MLH1 mRNA expression level and whether mRNA expression in peripheral blood could be a significant factor for early diagnosis and surveillance of Lynch syndrome.
American Psychological Association (APA)
Zhang, Yanni& Chen, Huishuang& Peng, Zhiyu& Banerjee, Santasree& Li, Wei& Zhao, Zhaolong…[et al.]. 2018. A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level. BioMed Research International،Vol. 2018, no. 2018, pp.1-8.
https://search.emarefa.net/detail/BIM-1124333
Modern Language Association (MLA)
Zhang, Yanni…[et al.]. A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level. BioMed Research International No. 2018 (2018), pp.1-8.
https://search.emarefa.net/detail/BIM-1124333
American Medical Association (AMA)
Zhang, Yanni& Chen, Huishuang& Peng, Zhiyu& Banerjee, Santasree& Li, Wei& Zhao, Zhaolong…[et al.]. A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-8.
https://search.emarefa.net/detail/BIM-1124333
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1124333