|
Colorectal Carcinoma
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Colorectal cancer in Lynch syndrome associated with PMS2 and MSH6 mutations.
|
31845022 |
2020 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome accounts for 3-5% of colorectal cancers and is due to a germline mutation in one of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2.
|
31745674 |
2020 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
We conclude that performing pan-Trk IHC on this preselected subgroup of MLH1/PMS2/BRAFV600E triple negative CRCs (only 3.3% of all CRC patients) is a resource effective approach to identify the overwhelming majority of CRC patients with NTRK gene fusions.
|
31792356 |
2019 |
|
Colorectal Carcinoma
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, age at colorectal cancer diagnosis varies widely, and a strong genetic anticipation effect has been suggested for PMS2 families.
|
30824524 |
2019 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Using a semiquantitative score ranging from 0 (negative) to 12 (maximum immunopositivity) we analyzed MLH1 expression patterns in 130 MLH1-/PMS2-deficient colorectal cancers.
|
30613919 |
2019 |
|
Colorectal Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In addition, we found that patients with intact nuclear expression for MLH1 and/or PMS2 were more likely to have higher tumor budding compared with patients with lost expression, possibly related to mismatch repair CC's not being as reliant on tumor budding.
|
31567276 |
2019 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PMS2 mutation carriers were at increased risk for colorectal cancer (cumulative risk to age 80 years of 13% [95% CI, 7.9% to 22%] for males and 12% [95% CI, 6.7% to 21%] for females) and endometrial cancer (13% [95% CI, 7.0%-24%]), compared with the general population (6.6%, 4.7%, and 2.4%, respectively).
|
30161022 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previously suggested SNPs do not modify CRC risk in PMS2 carriers.
|
29147930 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Adding location of colorectal cancer to PREMM5 considerably improved the models performance for PMS2 mutation carriers (AUC 0.77) and overall (AUC 0.81 vs. 0.72).
|
28933000 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Half the PMS2-associated CRCs contained KRAS variants, but only 20% of these were in hotspots that encoded G12D or G13D.
|
29758216 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively.
|
30324682 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps.
|
28600700 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
- To compare the clinicopathologic features of colorectal carcinomas with isolated PMS2 loss by immunohistochemistry to those with other forms of mismatch repair deficiency.
|
29336605 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The present study examined the expression of certain MMR proteins [namely, MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MutS homolog 6 (MSH6) and PMS1 homolog 2 (PMS2)] in patients with stage II and III sporadic CRC.
|
29849807 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four hundred two patients (89.3%) had MMR-proficient tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic MUTYH; 1, SMAD4); 13 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (3, ATM; 1, ATM/CHEK2; 2, BRCA1; 4, BRCA2; 1, CDKN2A; 2, PALB2); 10 patients had mutations in low-penetrance CRC genes (3, APC c.3920T>A, p.I1307K; 7, monoallelic MUTYH).
|
27978560 |
2017 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
None of the MMRD small bowel adenocarcinomas harbored the BRAF V600E mutation, whereas 60% of MMRD colorectal carcinomas were positive for BRAF V600E with concurrent loss of MLH1 and PMS2 expression.
|
27258561 |
2017 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two PMS2 VUS, c.2149G>A (p.V717M) and c.2444C>T (p.S815L), were identified in trans in one individual diagnosed with early-onset colorectal cancer (CRC) who belonged to a family fulfilling clinical criteria for hereditary cancer.
|
28365877 |
2017 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Notably, in both MSI-H and MSS CRC, CD274<sup>IC</sup> and CD274<sup>IP</sup> were independently associated with improved prognosis (P < 0.05), while BRAF mutation was associated with CD274<sup>TP</sup>, poor differentiation, sporadic type, and hMLH1(-)/hMSH2(+)/hMSH6(+)/PMS2(-) in MSI-H CRC (P < 0.006).
|
28405764 |
2017 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Universal screening using immunohistochemistry for DNA mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2) is advocated by major professional medical organizations to identify Lynch syndrome-associated colorectal carcinoma.
|
28232158 |
2017 |
|
Colorectal Carcinoma
|
0.500 |
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 |