Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients

Wang, Jun; Luo, Mao-Hong; Zhang, Zuo-Xing; Zhang, Pei-Da; Jiang, Xili; Ma, Dong-Wang; Suo, Rongzeng; Zhao, Lingyue; Qi, Qing-Hui

doi:10.3748/wjg.v13.i10.1612

Cited by 7 publications

(4 citation statements)

References 46 publications

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“…Chinese LS screening criteria decreased the pedigree LS numbers and are more suitable for small Chinese pedigrees (Genetics Group of the Committee of Colorectal Cancer, China Anti-cancer Association, 2018). Wang et al (2007) have reported that the sensitivity and specificity of immunohistochemistry for predicting mutations to screen hereditary nonpolyposis colorectal cancer (HNPCC) in Chinese CRC cases suspected of HNPCC were 79% and 77%, respectively. Due to the cost of the test, only some of the dMLH1 or dPMS2 patients accepted advanced detection to excluding BRAF V600E mutation or MLH1 promoter hypermethylation and only 25 cases accepted NGS for LS.…”

Section: Discussionmentioning

confidence: 99%

“…Immunohistochemistry testing for MMR state is the primary step for LS screening universally which is cost-effective and easily available (Wong et al ., 2018; Gudgeon et al ., 2019; Sarode and Robinson 2019). The sensitivity of immunohistochemistry testing for MMR was over 90% (Wang et al ., 2007; Shia, 2008). Increasingly studies have demonstrated that the predictive value of immunohistochemistry is as sensitive as MSI testing.…”

Section: Introductionmentioning

confidence: 99%

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Universal screening for Lynch syndrome in operated colorectal cancer by immunohistochemistry: a cohort of patients in Liaoning province, China

Zhao¹,

Xiang

et al. 2023

European Journal of Cancer Prevention

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Objective Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome worldwide. Due to the decreasing family size in Liaoning province. The Bethesda and Amsterdam II criteria have lower sensitivity and specificity and are not suitable for the local population. Immunohistochemistry screening for mutations in DNA mismatch repair (MMR) in newly diagnosed colorectal cancer can improve the detection rate of LS.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Universal screening for Lynch syndrome in operated colorectal cancer by immunohistochemistry: a cohort of patients in Liaoning province, China

Zhao¹,

Xiang

et al. 2023

European Journal of Cancer Prevention

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“…Fishel et al and Leach et al first independently reported the mutation of MMR genes is associated with Lynch syndrome according to their study that showed the mutation of MSH2 gene causes Lynch syndrome [ 20 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome

Liang

et al. 2017

Oncotarget

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Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6 and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria. Immuno-histochemical staining of MSH2 and MSH6 shows only foci nuclear positive on the surface of the tumor with strong expression of MLH1 and PMS2 with diffuse immunoreactivity. In order to dig into the molecular basis of this LS pedigree, we collected the proband's blood sample, extracted the genomic DNA and applied the genetic screening. As a result, we identified a novel heterozygous deletion in MSH2 gene by targeted next generation sequencing, which is also proved to be co-segregated among other affected family members by following validation. To our knowledge, this novel heterozygous deletion (c.1676_1679 delTAAA) in MSH2 gene causes frameshift mutation (p.Asn560Lysfs*29) and leads to the formation of a truncated MSH2 protein which is confirmed to be a deleterious mutation according to the variant interpretation guidelines of American College of Medical Genetics and Genomics (ACMG). Identification of novel DNA mismatch repair (MMR) gene mutations can definitely benefit to the clinical diagnosis and management.

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“…Figure 3.The function of DNA mismatch repair genes and its correlations with the human disease is very significant. Germline mutations in the human homologue of the bacteria mutS gene (MSH2) predispose individuals to Lynch syndrome Wang et al[14]; Pérez-Cabornero et al[15]. DNA mismatch repair (MMR) genes are following a highly conserved biological pathway playing a significant role in maintaining genomic stability.…”

mentioning

confidence: 99%

Application of Next Generation Sequencing Approach to Molecular Diagnosis Of Hereditary Colorectal Cancer: Identification Of A Novel Heterozygous Single Nucleotide Germline Deletion In Msh2 Gene Cause Lynch Syndrome

Lu¹,

Xiao²,

Banerjee

et al. 2020

OAJOM

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However, according to the previous reports, MSH2 was the first gene to be identified as associated with LS, together with MLH1 Knudsen et al. [6]. Germline mutations of MSH2 and MLH1 are together accounting for 90% cases of LS Peltomäki et al. [7]. During DNA replication, to repair the mismatched bases, the MSH2 bind with MSH6 or MSH3 to form the MutSα/β complexes and translocate into nucleus to bind to the DNA and start the mismatched base repair Boland et al. [8].

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Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients

Abstract: The frequency of HNPCC is approximately 10% among all Chinese CRC cases. The MSI and IHC detections for hMSH2/hMLH1 proteins are reliable pre-screening tests for hMLH1/hMSH2 germline mutations in families suspected of having HNPCC.

Cited by 7 publications

References 46 publications

Universal screening for Lynch syndrome in operated colorectal cancer by immunohistochemistry: a cohort of patients in Liaoning province, China

Universal screening for Lynch syndrome in operated colorectal cancer by immunohistochemistry: a cohort of patients in Liaoning province, China

A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome

Application of Next Generation Sequencing Approach to Molecular Diagnosis Of Hereditary Colorectal Cancer: Identification Of A Novel Heterozygous Single Nucleotide Germline Deletion In Msh2 Gene Cause Lynch Syndrome

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