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CLC number: R735.3

On-line Access: 2019-01-07

Received: 2018-02-27

Revision Accepted: 2018-06-26

Crosschecked: 2018-12-05

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Journal of Zhejiang University SCIENCE B 2019 Vol.20 No.1 P.105-108


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

Author(s):  Qiao-Qi Sui, Wu Jiang, Xiao-Dan Wu, Yi-Hong Ling, Zhi-Zhong Pan, Pei-Rong Ding

Affiliation(s):  Department of Colorectal Surgery, Sun Yat-sen University Cancer Center, Guangzhou 510060, China; more

Corresponding email(s):   panzhzh@sysucc.org.cn, dingpr@sysucc.org.cn

Key Words:  Lynch syndrome, DNA mismatch repair, Frameshift mutation

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Qiao-Qi Sui, Wu Jiang, Xiao-Dan Wu, Yi-Hong Ling, Zhi-Zhong Pan, Pei-Rong Ding. A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study#[J]. Journal of Zhejiang University Science B, 2019, 20(1): 105-108.

@article{title="A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study#",
author="Qiao-Qi Sui, Wu Jiang, Xiao-Dan Wu, Yi-Hong Ling, Zhi-Zhong Pan, Pei-Rong Ding",
journal="Journal of Zhejiang University Science B",
publisher="Zhejiang University Press & Springer",

%0 Journal Article
%T A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study#
%A Qiao-Qi Sui
%A Wu Jiang
%A Xiao-Dan Wu
%A Yi-Hong Ling
%A Zhi-Zhong Pan
%A Pei-Rong Ding
%J Journal of Zhejiang University SCIENCE B
%V 20
%N 1
%P 105-108
%@ 1673-1581
%D 2019
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1800105

T1 - A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study#
A1 - Qiao-Qi Sui
A1 - Wu Jiang
A1 - Xiao-Dan Wu
A1 - Yi-Hong Ling
A1 - Zhi-Zhong Pan
A1 - Pei-Rong Ding
J0 - Journal of Zhejiang University Science B
VL - 20
IS - 1
SP - 105
EP - 108
%@ 1673-1581
Y1 - 2019
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1800105

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.


目的:寻找一个Lynch综合征患者所在家系携带的DNA错配修复基因突变,探讨各突变对肿瘤发生发展 的影响.
结论:我们在患者体内发现MLH1基因第19号外显子移码突变(c.2250_2251insAA)以及 MLH3基因第1号外显子c.1397C>A突变.在患者家系中,我们仅检测到有MLH1突变,因此该突变极有可能为致病突变.


Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article


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[15]List of electronic supplementary materials

[16]Fig. S1 Sequencing of the proband

[17]Fig. S2 Sequencing of the patients of the Lynch syndrome pedigree

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