Microsatellite instability in colorectal cancer
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
enable the detection of underlying Lynch syndrome and inform prognosis and therapy …