Microsatellite instability in colorectal cancer

CR Boland, A Goel - Gastroenterology, 2010 - Elsevier
Microsatellite instability (MSI) is a hypermutable phenotype caused by the loss of DNA
mismatch repair activity. MSI is detected in about 15% of all colorectal cancers; 3% are of …

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

HT Lynch, PM Lynch, SJ Lanspa, CL Snyder… - Clinical …, 2009 - Wiley Online Library
More than one million patients will manifest colorectal cancer (CRC) this year of which,
conservatively, approximately 3%(∼ 30,700 cases) will have Lynch syndrome (LS), the most …

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

SE Plon, DM Eccles, D Easton, WD Foulkes… - Human …, 2008 - Wiley Online Library
Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is …

Endometrial cancer in Lynch syndrome

S Zhao, L Chen, Y Zang, W Liu, S Liu… - … Journal of Cancer, 2022 - Wiley Online Library
Lynch syndrome (LS) is an autosomal dominant inherited disease caused by germline
pathogenic variants (PVs) in mismatch repair (MMR) genes. LS‐associated endometrial …

Postreplicative mismatch repair

J Jiricny - Cold Spring Harbor perspectives in biology, 2013 - cshperspectives.cshlp.org
The mismatch repair (MMR) system detects non-Watson–Crick base pairs and strand
misalignments arising during DNA replication and mediates their removal by catalyzing …

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors

AR Mensenkamp, IP Vogelaar, WAG van Zelst–Stams… - Gastroenterology, 2014 - Elsevier
Lynch syndrome is caused by germline mutations in the mismatch repair (MMR) genes.
Tumors are characterized by microsatellite instability (MSI). However, a considerable …

Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome

MB Yurgelun, B Allen, RR Kaldate, KR Bowles… - Gastroenterology, 2015 - Elsevier
Background & Aims Multigene panels are commercially available tools for hereditary cancer
risk assessment that allow for next-generation sequencing of numerous genes in parallel …

[HTML][HTML] Lynch syndrome genetics and clinical implications

P Peltomäki, M Nyström, JP Mecklin, TT Seppälä - Gastroenterology, 2023 - Elsevier
Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in humans
and accounts for some 3% of unselected patients with colorectal or endometrial cancer and …

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients

H Hampel, W Frankel, J Panescu, J Lockman… - Cancer research, 2006 - AACR
Endometrial cancer is the most common cancer in women with Lynch syndrome. The
identification of individuals with Lynch syndrome is desirable because they can benefit from …

Identifying mismatch repair‐deficient colon cancer: near‐perfect concordance between immunohistochemistry and microsatellite instability testing in a large …

MB Loughrey, J McGrath, HG Coleman… - …, 2021 - Wiley Online Library
Aims Establishing the mismatch repair (MMR) status of colorectal cancers is important to
enable the detection of underlying Lynch syndrome and inform prognosis and therapy …