Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Zhang, Min; Chen, Tianhui

doi:10.1186/s13053-021-00182-1

Cited by 6 publications

(7 citation statements)

References 36 publications

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“…In addition to the four mentioned genes, deletion of EPCAM (MIM# 185535), can have a disease-causing effect by causing structural abnormalities on chromosome position 2p21 due to its proximity to the MSH2 gene. 9,10 It is currently recognized that the MMR system plays an essential role in maintaining genomic stability by removing replication errors from DNA. In this system, each MMR protein has a unique functional domain and, of course, a specific function.…”

Section: Introductionmentioning

confidence: 99%

Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome

Mirabdolhosseini,

Yaghoob Taleghani,

Rejali

et al. 2023

Cancer Reports

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BackgroundApproximately 5% of colorectal cancers (CRCs) are hereditary. Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of recognized hereditary CRC. Although Iran, as a developing country, has a high incidence of CRC, the spectrum of variants has yet to be thoroughly investigated.AimsThis study aimed to investigate pathogenic and non‐pathogenic variants in MLH1 and MSH2 genes in Iranian patients with suspected Lynch syndrome (sLS).Methods and resultsIn the present study, 25 peripheral blood samples were collected from patients with sLS and high microsatellite instability (MSI‐H). After DNA extraction, all samples underwent polymerase chain reaction and Sanger sequencing to identify the variants in the exons of MLH1 and MSH2 genes. The identified variants were interpreted using prediction tools, and were finally reported under ACMG guidelines. In our study population, 13 variants were found in the MLH1 gene and 8 in the MSH2 gene. Interestingly, 7 of the 13 MLH1 variants and 3 of the 8 MSH2 variants were novel, whereas the remaining variants were previously reported or available in databases. In addition, some patients with sLS did not have variants in the exons of the MLH1 and MSH2 genes. The variants detected in the MLH1 and MSH2 genes had specific characteristics regarding the number, area of occurrence, and their relationship with demographic and clinicopathologic features.ConclusionOverall, our results suggest that analysis of MLH1 and MSH2 genes alone is insufficient in the Iranian population, and more comprehensive tests are recommended for detecting LS.

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Section: Introductionmentioning

confidence: 99%

Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome

Mirabdolhosseini,

Yaghoob Taleghani,

Rejali

et al. 2023

Cancer Reports

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“…The application of genetic testing by NGS, is most effectively carried out under the circumstance of a high index of suspicion for LS; this takes into account a range of previously used guidelines including Bethesda [ 16 ] and NICE [ 17 ], which includes a relatively young age at diagnosis (<50 years) and a family history. Genetic counselling is recommended before genetic testing is performed [ 15 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

A Scoring Model and Protocol to Adapt Universal Screening for Lynch Syndrome to Identify Germline Pathogenic Variants by Next Generation Sequencing from Colorectal Cancer Patients and Cascade Screening

Chambuso

Robertson

Ramesar

2022

Cancers

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Identification of germline pathogenic variants (PV) predisposing to Lynch syndrome (LS) is an important step for effective use of cascade screening of extended at-risk lineages, leading to reduced morbidity and mortality due to colorectal cancer (CRC). As a general rule, however, next generation sequencing (NGS, either of gene panels or whole exomes) is relatively expensive and unaffordable for general clinical use. In resource-poor settings, performing NGS testing on an entire cohort of CRC patients, even if limited to those under 50 or 60 years of age, still places an enormous burden on limited resources. Although family history can be a good indicator for LS testing, identifying at-risk family members and offering cascade screening may not benefit many patients/probands without an obvious family history. This article presents a novel program called Modified Ascertainment and follow-up Program (MAP) with a scoring model for LS ascertainment and molecular screening by NGS with diagnosis confirmation of PV and cascade screening. The goal is to improve LS ascertainment in light of the growing burden of early-onset CRC, particularly in low- and middle-income countries. Through MAP, judiciously applied molecular genetics will improve identification of PV predisposing to LS and cascade screening.

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“…Following publication of the original article [ 1 ], a typesetting errors was identified. The author affiliations were incorrect and have been updated in this correction article.…”

mentioning

confidence: 99%

Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Zhang

Chen

2021

Hered Cancer Clin Pract

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Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Cited by 6 publications

References 36 publications

Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome

Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome

A Scoring Model and Protocol to Adapt Universal Screening for Lynch Syndrome to Identify Germline Pathogenic Variants by Next Generation Sequencing from Colorectal Cancer Patients and Cascade Screening

Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

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