[HTML][HTML] Simplified microsatellite instability detection protocol provides equivalent sensitivity to robust detection strategies in Lynch syndrome patients

H Babaei, M Zeinalian, MH Emami… - Cancer biology & …, 2017 - ncbi.nlm.nih.gov
Objective: Germline mutations in mismatch repair (MMR) genes cause Lynch syndrome
(LS). LS is an inherited disease, and an important consequence of MMR deficiency is …

Screening for Microsatellite Instability in Colorectal Cancer and Lynch Syndrome-A Mini Review

M Wang, K Kanehira, F Chen - North American Journal of Medicine and …, 2016 - najms.com
Colorectal cancers with high frequency microsatellite instability (MSI-H) account for 15-20%
of all colorectal cancers (CRC). The familial form of MSI-H CRC is Lynch syndrome, caused …

[HTML][HTML] An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers

A Goel, T Nagasaka, R Hamelin, CR Boland - PloS one, 2010 - journals.plos.org
Purpose Microsatellite instability (MSI) is used to screen colorectal cancers (CRC) for Lynch
Syndrome, and to predict outcome and response to treatment. The current technique for …

[HTML][HTML] Detection of mismatch repair deficiency and microsatellite instability in colorectal adenocarcinoma by targeted next-generation sequencing

JA Nowak, MB Yurgelun, JL Bruce… - The Journal of Molecular …, 2017 - Elsevier
Mismatch repair protein deficiency (MMR-D) and high microsatellite instability (MSI-H) are
features of Lynch syndrome–associated colorectal carcinomas and have implications in …

Population‐based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

L Schofield, N Watson, F Grieu, WQ Li… - … Journal of Cancer, 2009 - Wiley Online Library
Abstract Approximately 1–2% of colorectal cancers (CRC) arise because of germline
mutations in DNA mismatch repair genes, referred to as Lynch syndrome. These tumours …

A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations

M Pedroni, B Roncari, S Maffei, L Losi… - Disease …, 2007 - content.iospress.com
Abstract Hereditary NonPolyposis Colorectal Cancer (Lynch syndrome) is an autosomal
dominant disease caused by germline mutations in a class of genes deputed to maintain …

[HTML][HTML] Detection of microsatellite instability in colonoscopic biopsies and postal urine samples from Lynch syndrome cancer patients using a multiplex PCR assay

R Phelps, R Gallon, C Hayes, E Glover, P Gibson… - Cancers, 2022 - mdpi.com
Simple Summary Lynch syndrome is caused by inherited defects in genes which repair
DNA, and predisposes affected individuals to cancers of the bowel, endometrium (uterus …

[HTML][HTML] Deficient mismatch repair: read all about it

S Richman - International journal of oncology, 2015 - spandidos-publications.com
Defects in the DNA mismatch repair (MMR) proteins, result in a phenotype called
microsatellite instability (MSI), occurring in up to 15% of sporadic colorectal cancers …

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases

J Mueller, I Gazzoli, P Bandipalliam, JE Garber… - Cancer research, 2009 - AACR
An accurate algorithm is essential for effective molecular diagnosis of hereditary colorectal
cancer (CRC). Here, we have extended the analysis of 71 CRC cases suspected to be …

[HTML][HTML] A highly sensitive pan-cancer test for microsatellite instability

JW Bacher, EB Udho, EE Strauss, I Vyazunova… - The Journal of Molecular …, 2023 - Elsevier
Microsatellite instability (MSI) is an evolving biomarker for cancer detection and treatment.
MSI was first used to identify patients with Lynch syndrome, a hereditary form of colorectal …