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 …

Update on Lynch syndrome genomics

P Peltomäki - Familial cancer, 2016 - Springer
Four main DNA mismatch repair (MMR) genes have been identified, MLH1, MSH2, MSH6,
and PMS2, which when mutated cause susceptibility to Lynch syndrome (LS). LS is one of …

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

MJL Ligtenberg, RP Kuiper, TL Chan, M Goossens… - Nature …, 2009 - nature.com
Lynch syndrome patients are susceptible to colorectal and endometrial cancers owing to
inactivating germline mutations in mismatch repair genes, including MSH2 (ref.). Here we …

[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 …

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

MJE Kempers, RP Kuiper, CW Ockeloen… - The lancet …, 2011 - thelancet.com
Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6, and
PMS2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer …

Risk of cancer in cases of suspected lynch syndrome without germline mutation

M Rodríguez–Soler, L Pérez–Carbonell, C Guarinos… - Gastroenterology, 2013 - Elsevier
BACKGROUND & AIMS: Colorectal cancers (CRCs) with microsatellite instability (MSI) and
a mismatch repair (MMR) immunohistochemical deficit without hypermethylation of the …

[HTML][HTML] Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management

HT Lynch, MJ Casey, CL Snyder, C Bewtra, JF Lynch… - Molecular …, 2009 - Elsevier
Hereditary ovarian cancer accounts for at least 5% of the estimated 22,000 new cases of this
disease during 2009. During this same time, over 15,000 will die from malignancy ascribed …

All y'all need to know 'bout retroelements in cancer

VP Belancio, AM Roy-Engel, PL Deininger - Seminars in cancer biology, 2010 - Elsevier
Genetic instability is one of the principal hallmarks and causative factors in cancer. Human
transposable elements (TE) have been reported to cause human diseases, including …

Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review

K Tutlewska, J Lubinski, G Kurzawski - Hereditary cancer in clinical …, 2013 - Springer
Lynch syndrome (clinically referred to as HNPCC–Hereditary Non-Polyposis Colorectal
Cancer) is a frequent, autosomal, dominantly-inherited cancer predisposition syndrome …

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population

H Song, MS Cicek, E Dicks, P Harrington… - Human molecular …, 2014 - academic.oup.com
The aim of this study was to estimate the contribution of deleterious mutations in BRCA1,
BRCA2, MLH1, MSH2, MSH6 and PMS2 to invasive epithelial ovarian cancer (EOC) in the …