Implication of DNA repair genes in Lynch-like syndrome
Many colorectal cancers (CRCs) that exhibit microsatellite instability (MSI) are not explained
by MLH1 promoter methylation or germline mutations in mismatch repair (MMR) genes …
by MLH1 promoter methylation or germline mutations in mismatch repair (MMR) genes …
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 …
a mismatch repair (MMR) immunohistochemical deficit without hypermethylation of the …
Whole-exome sequencing identifies pathogenic germline variants in patients with Lynch-Like Syndrome
W Dos Santos, ES de Andrade, FAO Garcia… - Cancers, 2022 - mdpi.com
Simple Summary A significant proportion of families with a clinical suggestion of Lynch
syndrome and screened for the known MMR genes remain without a molecular diagnosis …
syndrome and screened for the known MMR genes remain without a molecular diagnosis …
L ynch‐like syndrome: Characterization and comparison with EPCAM deletion carriers
SY Kang, CK Park, DK Chang, JW Kim… - … Journal of Cancer, 2015 - Wiley Online Library
Colorectal cancers (CRCs) with microsatellite instability‐high (MSI+) but without detectable
germline mutation or hypermethylation in DNA mismatch repair (MMR) genes can be …
germline mutation or hypermethylation in DNA mismatch repair (MMR) genes can be …
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 …
cancer (CRC). Here, we have extended the analysis of 71 CRC cases suspected to be …
It is time to get serious about diagnosing Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) in the general population
JP Terdiman - Gastroenterology, 2005 - gastrojournal.org
MD, a pioneer in the field, is an autosomal dominant hereditary cancer syndrome, which
accounts for upwards of 3% of all colorectal cancers, 1, 2 and is associated with an …
accounts for upwards of 3% of all colorectal cancers, 1, 2 and is associated with an …
Comprehensive genomic characterization of fifteen early-onset Lynch-like syndrome colorectal cancers
Simple Summary The most prevalent type of hereditary colorectal cancer is called Lynch
syndrome and it is characterized by a tumor phenotype called microsatellite instability (MSI) …
syndrome and it is characterized by a tumor phenotype called microsatellite instability (MSI) …
Colorectal cancer due to deficiency in DNA mismatch repair function: a review
AM Bellizzi, WL Frankel - Advances in anatomic pathology, 2009 - journals.lww.com
Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome attributable
to deleterious germline mutations in mismatch repair (MMR) genes. The syndrome is typified …
to deleterious germline mutations in mismatch repair (MMR) genes. The syndrome is typified …
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome
R Pearlman, S Haraldsdottir… - Journal of medical …, 2019 - jmg.bmj.com
Background Patients with colorectal cancer (CRC) with mismatch repair-deficient (dMMR)
tumours without MLH1 methylation or germline MMR pathogenic variants (PV) were …
tumours without MLH1 methylation or germline MMR pathogenic variants (PV) were …
Somatic aberrations of mismatch repair genes as a cause of microsatellite‐unstable cancers
WRR Geurts‐Giele, CHM Leenen… - The Journal of …, 2014 - Wiley Online Library
Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes,
resulting in microsatellite‐unstable tumours. Approximately 35% of suspected LS (sLS) …
resulting in microsatellite‐unstable tumours. Approximately 35% of suspected LS (sLS) …