Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry (IHC) for DNA mismatch repair proteins MLH1, PMS2, MSH2, and MSH6 is used for microsatellite instability (MSI) screening in colorectal carcinoma (CRC) and endometrial carcinoma (EC).
|
31402167 |
2020 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We transiently expressed MLH1 or MSH2 variants in MLH1- or MSH2-null human colorectal cancer cell lines (HCT116 or LoVo), respectively.
|
30998989 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)).
|
30730459 |
2019 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer.
|
29651783 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We compared the development of (advanced) adenomas and CRC among patients with pathogenic variants in the DNA mismatch repair genes MLH1 (n=55), MSH2 (n=44), MSH6 (n=143), or PMS2 (n=22) over 1836 years of follow-up (median follow-up of 6 years per patient).
|
31470178 |
2019 |
Colorectal Carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Additional loss of MSH2 and MSH6 expression in sporadic deficient mismatch repair colorectal cancer due to MLH1 promoter hypermethylation.
|
30723092 |
2019 |
Colorectal Carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
All probands were affected by CRC at young age; tumors showed MSI and abnormal MSH2/MSH6 proteins expression.
|
30916491 |
2019 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this first report from Pakistan, we investigated the prevalence of pathogenic <i>MLH1/MSH2/MSH6</i> variants in colorectal cancer (CRC) patients.
|
31660093 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
IHC mismatch repair (MMR) defects were identified in 70 out of 352 cases (19.8%) including six CRCs MSH2/MSH6 defective, two CRCs, respectively, MSH6 and PMS2 defective, 58 CRCs MLH1/PMS2 defective and four CRCs showing atypical MMR pattern.
|
31609810 |
2019 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Twenty-nine patients (52.7%) developed CRC and extra-colonic tumors; of these, 15 patients (48.3%) had mutations in MLH1, 10 (58.8%) in MSH2, and 4 (57.1%) in MSH6.
|
29672549 |
2018 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Metachronous CRC were diagnosed after a median interval of 24 (6-57) months since last colonoscopy and were more commonly seen in MSH2 mutation carriers (58 vs. 35%, p = 0.001).
|
29532206 |
2018 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 20 CRCs associated with germline variants in PMS2, 22 sporadic CRCs, 18 CRCs with germline variants in MSH2, and 24 CRCs from patients with germline variants in MLH1.
|
29758216 |
2018 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The objective of the study was to investigate the prevalence of MLH1/MSH2 mutation carriers among Moroccan patients with colorectal cancer (CRC) in a hospital-based cohort.
|
30044143 |
2018 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of human MutS homolog 2 missense mutations in patients with colorectal cancer.
|
29731845 |
2018 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most promising of these candidate genes were: (i) PRKCA, PRKDC, and MCM4, as a functional relation to MSH2 is predicted by network analysis, and (ii) CSMD1, as this is commonly mutated in CRC.
|
29987844 |
2018 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The primary objective of the present study was to compare the choice of colectomy, i.e. total vs. segmental colectomy, in cases of hereditary non-polyposis colorectal cancer (HNPCC/lynch syndrome), and to assess the efficacy, oncological safety, functional outcome and post-operative complications of total abdominal colectomy with ileorectal anastomosis vs. segmental colectomy in HNPCC.
|
30186378 |
2018 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have developed and validated for the diagnosis of inherited colorectal cancer (CRC) a massive parallel sequencing strategy based on: (i) fast capture of exonic and intronic sequences from ten genes involved in Mendelian forms of CRC (MLH1, MSH2, MSH6, PMS2, APC, MUTYH, STK11, SMAD4, BMPR1A and PTEN); (ii) sequencing on MiSeq and NextSeq 500 Illumina platforms; (iii) a bioinformatic pipeline that includes BWA-Picard-GATK (Broad Institute) and CASAVA (Illumina) in parallel for mapping and variant calling, Alamut Batch (Interactive BioSoftware) for annotation, CANOES for CNV detection and finally, chimeric reads analysis for the detection of other types of structural variants (SVs).
|
29967336 |
2018 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We examined 118 Japanese patients (236 tumors) with synchronous CRC and 117 Japanese patients (117 tumors) with solitary CRC with immunohistochemical staining for TP53 and mismatch repair (MMR) protein (MLH1, MSH2, PMS2, and MSH6) and mutation analyses of KRAS and BRAF genes.
|
28877066 |
2018 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Compared with CRCs in the general population, t-CRCs had a higher MSI frequency (24% vs 11%, p=0.003) and more frequent loss of MSH2/MSH6 staining (13% vs 1%, p<0.001).
|
29439113 |
2018 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Case-control analysis confirmed the gender association (p < 0.001) and showed HNPCC (p < 0.001) and history family of CRC (p = 0.010) to be significantly more frequent in Non-MetS patients.
|
29704123 |
2018 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry for CDX2, hMLH1, and hMSH2 was applied to a study cohort of 503 CRC specimens (FIRE-3) and a matched case-control collection of 50 right-sided CRC specimens with synchronous distant metastases and 50 right-sided CRCs without distant metastases.
|
29675807 |
2018 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among MSH2 mutation carriers, mutations in MSH2 (the most prevalent mutations overall) were most commonly associated with female-specific cancers: endometrial cancer in 83 (30%) of 279 women; ovarian cancer in 28 (10%) of 279 women; and colorectal cancer in 239 (50%) 479 men and women.
|
28772289 |
2017 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2.
|
28514183 |
2017 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our aim was to elucidate the molecular basis of MSH2-deficient LS-suspected cases using a comprehensive analysis of colorectal cancer (CRC)-associated genes at germline and somatic level.
|
28577310 |
2017 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2.
|
28528517 |
2017 |