P2, N=130, Not yet recruiting, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology; Union Hospital, Tongji Medical College, Huazhong University of

5 days ago

New P2 trial • Combination therapy

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRCA (Breast cancer early onset) • CD4 (CD4 Molecule)

MSI-H/dMMR • BRCA mutation • MSH6 expression

FoundationOne® CDx

5-fluorouracil • sacituzumab tirumotecan (MK-2870)

A Phase 2 Study of Mirvetuximab Soravtansine (IMGN853) and Pembrolizumab in Endometrial Cancer (EC) (clinicaltrials.gov)

P2, N=18, Active, not recruiting, Dana-Farber Cancer Institute | Trial completion date: Aug 2028 --> May 2027 | Trial primary completion date: Aug 2025 --> Jun 2024

7 days ago

Trial completion date • Trial primary completion date • Combination therapy

FOLR1 ( Folate receptor alpha ) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSH6 expression

Keytruda (pembrolizumab) • Elahere (mirvetuximab soravtansine-gynx)

Association Between the Protein Expressions of MutS Homologs and Villin and the Clinicopathological Characteristics in 310 Colon Cancer Patients (PubMed, Sichuan Da Xue Xue Bao Yi Xue Ban)

The expressions of MSH2, MSH6, and villin are closely correlated with the pathological features of colon cancer patients. Evaluating the expression of the three proteins may assist in the clinical diagnosis, treatment, and prognosis evaluation of colon cancer.

8 days ago

Journal

MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSH6 expression

23d

A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review. (PubMed, Front Genet)

This study provides evidence that the MSH2 nonsense mutation c.354T>A is a highly likely pathogenic mutation and is responsible for typical LS-associated endometrial carcinoma. It emphasizes the importance of genetic counseling for proband family members to facilitate early diagnosis of LS-related carcinoma.

23 days ago

Review • Journal • MSi-H Biomarker

MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSI-H/dMMR • MSH2 mutation • MSH2 negative + MSH6 negative • MSH6 expression

Immunostaining for Mismatch Repair Complex Proteins Impacts on Clinical-Pathological Characteristics and Prognosis of Adenoid Cystic Carcinoma of Salivary Glands. (PubMed, J Oral Pathol Med)

Salivary glands' ACC shows imbalance of the MMR complex and loss of expression of its components is associated with the overall survival of these patients.

1 month ago

Journal • Mismatch repair

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSH6 expression

2ms

Fusobacterium Nucleatum Promotes Microsatellite Instability in Colorectal Carcinoma Through Up-regulation of miRNA-155-5p-Targeted Inhibition of MSH6 via the TLR4/NF-κB Signaling Pathway. (PubMed, Adv Biol (Weinh))

Fn treatment accelerated the malignant progression of CRC in mice, and this process is inhibited by miRNA-155-5p antagomir. Fn in CRC upregulated miRNA-155-5p by activating TLR4/NF-κB signaling to inhibit MSH6, and this regulatory pathway may affect MSS of cancer cells.

2 months ago

Journal • Microsatellite instability • IO biomarker

MSI (Microsatellite instability) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • MSH6 (MutS homolog 6) • MIR155 (MicroRNA 155) • TLR4 (Toll Like Receptor 4)

miR-155 expression • MSH6 expression

2ms

Clinicopathological Characteristics and Outcomes of Colorectal Cancer With Heterogenous Staining of Mismatch Repair Protein. (PubMed, Dis Colon Rectum)

Heterogenous mismatch repair protein staining in colorectal cancer exhibits distinct associations with tumor location, stage, microsatellite instability, BRAF mutation and prognosis. It is recommended to report MSH6 heterogeneity as it may indicate microsatellite instability-high. See Video Abstract.

2 months ago

Journal • Mismatch repair • MSi-H Biomarker

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

KRAS mutation • MSI-H/dMMR • BRAF mutation • PMS2 mutation • MSH6 expression

2ms

Clinicopathological Significance of Defective DNA Mismatch Repair in Endometrial Carcinoma: A Single-Center Study From Bahrain. (PubMed, Cureus)

These findings suggest the need for enhanced screening, early detection, and tailored treatment approaches in Bahrain. Further research and robust national cancer registries are warranted to fully understand the underlying risk factors and guide evidence-based interventions to mitigate the burden of this disease.

2 months ago

Journal • Mismatch repair

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSI-H/dMMR • MSH6 expression

2ms

Correlation of tumour budding with MSI and PD-L1-status in gastric cancer (ECP 2024)

Assessing TB in surgical specimens can provide information about the response to treatments, such as immunotherapy, which have been introduced into the treatment of GC in recent years. In this study, we demonstrated the relationship between TB, PD-L1 and MSI status in GC: Low grade TB, assessed by methods H.Ueno and L.Wang, correlates with MSI-positive status, but not with PD-L1-status of GC.

2 months ago

PD(L)-1 Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

PD-L1 expression • MSH6 expression

VENTANA PD-L1 (SP263) Assay • VENTANA PD-L1 (SP142) Assay

2ms

Expression of Programmed Death Ligand 1 [PD-L1] and Mismatch Repair Status in Squamous Cell Carcinomas of Cervix. (PubMed, J Obstet Gynaecol India)

Furthermore, most of the HPV-associated SCCs were MMR stable. This study found no significant association between MMR status and PD-L1 expression in cervical SCCs.

2 months ago

Journal • Mismatch repair • PD(L)-1 Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

PD-L1 expression • MSI-H/dMMR • MSH6 expression

6ms

Assessing Mismatch Repair Expression by Immunohistochemistry in Colorectal Adenocarcinoma -Insight from a Tertiary Care Centre. (PubMed, Gulf J Oncolog)

In conclusion, our study provides valuable insights into the expression of mismatch repair in colorectal adenocarcinoma through immunohistochemistry analysis conducted at our tertiary care centre. These findings hold significant clinical implications, suggesting further testing for BRAF and MLH1 Promoter Hypermethylation to confirm possibility of Lynch syndrome.

6 months ago

Journal • Mismatch repair

BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

BRAF mutation • MLH1 mutation • PMS2 mutation • MSH6 expression

7ms

Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair (clinicaltrials.gov)

P3, N=700, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Apr 2024 --> Apr 2025 | Trial primary completion date: Apr 2024 --> Apr 2025

7 months ago

Trial completion date • Trial primary completion date • Mismatch repair • Tumor mutational burden

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CD4 (CD4 Molecule)

MSI-H/dMMR • MSH2 mutation • MLH1 mutation • PMS2 mutation • MSH6 expression

Tecentriq (atezolizumab) • oxaliplatin • leucovorin calcium • fluorouracil topical

8ms

Mismatch repair protein deficiency and its implications on distant metastasis in colorectal cancer: A comprehensive analysis. (PubMed, Cancer Med)

Geographical and ethnic factors might influence peculiarities in MMR protein loss. Our findings also highlight new gene expression networks and crucial regulatory molecules in CRC metastasis, enhancing our comprehension of the mechanisms driving distant metastasis.

8 months ago

Journal • Mismatch repair

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • IRF1 (Interferon Regulatory Factor 1)

MSI-H/dMMR • IRF1 expression • MSH6 expression

8ms

SU2C ACT3: Identification and Treatment Of Micrometastatic Disease in Stage III Colon Cancer (clinicaltrials.gov)

P3, N=400, Recruiting, Massachusetts General Hospital | Trial completion date: Apr 2026 --> Dec 2027 | Trial primary completion date: Apr 2025 --> Dec 2026

8 months ago

Trial completion date • Trial primary completion date • Metastases

BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

BRAF V600E • MSI-H/dMMR • BRAF V600 • MSH6 expression

Opdivo (nivolumab) • Herceptin (trastuzumab) • Erbitux (cetuximab) • 5-fluorouracil • Perjeta (pertuzumab) • Mektovi (binimetinib) • Braftovi (encorafenib) • irinotecan • leucovorin calcium

8ms

Pembrolizumab, Capecitabine, and Bevacizumab in Treating Patients With Microsatellite Stable Colorectal Cancer That Is Locally Advanced, Metastatic, or Cannot Be Removed by Surgery (clinicaltrials.gov)

P2, N=44, Completed, University of California, San Francisco | Active, not recruiting --> Completed | Trial completion date: Nov 2025 --> Jan 2024 | Trial primary completion date: Nov 2025 --> Jan 2024

8 months ago

Trial completion • Trial completion date • Trial primary completion date • Surgery • Metastases

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSH6 expression

Keytruda (pembrolizumab) • Avastin (bevacizumab) • capecitabine

9ms

Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients. (PubMed, BMC Gastroenterol)

The findings suggest a potential correlation between the abundance of B. fragilis and alterations in the expression of MMR genes. Since these genes can play a role in modifying colon cancer, investigating microbial characteristics and gene expression changes in CRC could offer a viable solution for CRC diagnosis.

9 months ago

Journal • Mismatch repair • Biopsy

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSH6 expression

9ms

Mismatch repair gene MSH6 correlates with the prognosis, immune status and immune checkpoint inhibitors response of endometrial cancer. (PubMed, Front Immunol)

Reduced MSH6 expression could serve as a potential biomarker for predicting better prognosis, active immune status, higher immune checkpoint expression level and better responsiveness to ICIs treatment in EC. MSH6 may become a potential target for treating solid tumors.

9 months ago

Journal • Checkpoint inhibition • Mismatch repair • PD(L)-1 Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1) • MSH6 (MutS homolog 6) • PD-L2 (Programmed Cell Death 1 Ligand 2)

PD-L1 expression • MSH6 mutation • PD-L2 expression • MSH6 expression

9ms

Testing Immunotherapy (Atezolizumab) With or Without Chemotherapy in Locoregional MSI-H/dMMR Gastric and Gastroesophageal Junction (GEJ) Cancer (clinicaltrials.gov)

P2, N=240, Recruiting, National Cancer Institute (NCI) | Initiation date: Jun 2024 --> Dec 2023

9 months ago

Trial initiation date

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSI-H/dMMR • MSH6 expression

Tecentriq (atezolizumab) • docetaxel • capecitabine • oxaliplatin • leucovorin calcium • fluorouracil topical

10ms

Clinical Trial of All-trans-retinoic Acid, Bevacizumab and Atezolizumab in Colorectal Cancer (clinicaltrials.gov)

P2, N=21, Recruiting, University of Texas Southwestern Medical Center | Not yet recruiting --> Recruiting

10 months ago

Enrollment open

BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CD4 (CD4 Molecule)

BRAF V600E • BRAF V600 • RAS wild-type • MSH6 expression

Avastin (bevacizumab) • Tecentriq (atezolizumab)

12ms

A Case of Transverse Colon Cancer Associated with Lynch Syndrome with Excellent Response to Pembrolizumab (PubMed, Gan To Kagaku Ryoho)

Modified FOLFOX6(mFOLFOX6)regimen was given as a first line chemotherapy and was followed by pembrolizumab after 1 cycle of the mFOLFOX6, because microsatellite instability(MSI)test of the tumor showed high-frequency MSI...Genetic test identified a MSH2 pathogenic variant leading to the diagnosis of Lynch syndrome. The present case shows the importance of MSI test or IHC-MMR before the treatment of metastatic colorectal cancer.

12 months ago

Journal • MSi-H Biomarker • PD(L)-1 Biomarker

MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSH6 expression

Keytruda (pembrolizumab) • 5-fluorouracil • oxaliplatin • leucovorin calcium

12ms

Diffuse Large B-Cell Lymphoma Has a Low Frequency of dMMR and High Frequencies of DNA Mismatch Repair Protein High Expression Associated with Lower T-Cell Infiltration (ASH 2023)

This study revealed that high expression of MMR proteins is a common feature of DLBCL associated with lower tumor-infiltrating T cells, MYC and p53 overexpression, and context-dependent prognostic effects. In contrast, dMMR and loss of MMR proteins are infrequent and have no significant prognostic effects in DLBCL treated with standard chemoimmunotherapy. These results may have implications for understanding DLBCL biology and the low efficacy of PD-1 blockade immunotherapy in DLBCL.

12 months ago

Mismatch repair • PD(L)-1 Biomarker • IO biomarker

MSI (Microsatellite instability) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSI-H/dMMR • MYC overexpression • MYC expression • MSH6 mutation • MLH1 mutation • PMS2 mutation • TP53 overexpression • MSH6 expression

12ms

Pediatric Burkitt Leukemia with Underlying MSH2, MUTYH and POT1 Germline Variants: The Complexities and Relevance of Understanding Cancer Predisposition (ASH 2023)

This case highlights the complexities of understanding genetic susceptibility in childhood cancers. We propose a multifactorial oligogenic inheritance of cancer susceptibility in this patient through several mechanisms of genomic instability.

12 months ago

Clinical • IO biomarker

BCL2 (B-cell CLL/lymphoma 2) • CD20 (Membrane Spanning 4-Domains A1) • BCL6 (B-cell CLL/lymphoma 6) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CD22 (CD22 Molecule) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • CASP8 (Caspase 8) • CCND3 (Cyclin D3) • MME (Membrane Metalloendopeptidase) • MUTYH (MutY homolog) • PHF6 (PHD Finger Protein 6) • POT1 (Protection of telomeres 1)

CD20 positive • MYC rearrangement • BCL6 rearrangement • BCL2 rearrangement • MSH6 expression

12ms

Clinical Trial of All-trans-retinoic Acid, Bevacizumab and Atezolizumab in Colorectal Cancer (clinicaltrials.gov)

P2, N=21, Not yet recruiting, University of Texas Southwestern Medical Center | Trial completion date: Oct 2026 --> Oct 2028 | Initiation date: Oct 2023 --> Jan 2024 | Trial primary completion date: Oct 2025 --> Oct 2026

12 months ago

Trial completion date • Trial initiation date • Trial primary completion date

BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CD4 (CD4 Molecule)

BRAF V600E • BRAF V600 • RAS wild-type • MSH6 expression

Avastin (bevacizumab) • Tecentriq (atezolizumab)

12ms

Metastasis of endometrial adenocarcinoma masquerading as a primary rectal cancer: A rare case report with literature review. (PubMed, Medicine (Baltimore))

Secondary rectal cancer with endometrial origination in the absence of endometriosis and serosal implants was extremely rare. Therefore, we should pay more attention to this rare but possible presentation for appropriate diagnosis and treatment of these patients.

12 months ago

Review • Journal

ER (Estrogen receptor) • PGR (Progesterone receptor) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSH6 expression

1year

A Phase 2 Study of Mirvetuximab Soravtansine (IMGN853) and Pembrolizumab in Endometrial Cancer (EC) (clinicaltrials.gov)

P2, N=35, Recruiting, Dana-Farber Cancer Institute | Trial completion date: Oct 2025 --> Oct 2026 | Trial primary completion date: Oct 2023 --> Oct 2024

1 year ago

Trial completion date • Trial primary completion date • Combination therapy

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSH6 expression

Keytruda (pembrolizumab) • Elahere (mirvetuximab soravtansine-gynx)

1year

Functional and phenotypic consequences of an unusual inversion in MSH2. (PubMed, Fam Cancer)

Functional investigation of this inversion in a laboratory setting revealed a resultant abnormal protein function. Thus, we have identified an unusual, small germline inversion in a mismatch repair gene that does not lead to a premature stop codon yet appears likely to be causal for the observed cancers.

1 year ago

Journal

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSH6 expression

1year

Status of PD-1 and PD-L1 expression in invasive urothelial carcinoma of the bladder with mismatch repair protein deficiency. (PubMed, Pol J Pathol)

PD-1/PD-L1 expression may contribute to the progression and poor prognosis of bladder cancer. However, further studies are required to research the clinical utility.

1 year ago

Journal • Mismatch repair • PD(L)-1 Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1) • PD-1 (Programmed cell death 1) • MSH6 (MutS homolog 6)

PD-L1 expression • MSI-H/dMMR • PD-1 expression • MSH6 expression

1year

Pan-cancer analysis of ubiquitin-specific protease 7 and its expression changes in the carcinogenesis of scar ulcer (PubMed, Zhonghua Shao Shang Za Zhi)

Analysis of clinical samples showed that USP7 expression was significantly higher in hypertrophic scars (0.35±0.05), scar ulcers (0.43±0.04), and scar cancers (0.61±0.03) than in normal skin (0.18±0.04), P<0.05. USP7 may be a clinical biomarker for the progression of cicatricial ulcer cancer.

1 year ago

Journal • Tumor mutational burden • Pan tumor

TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • DNMT3A (DNA methyltransferase 1) • CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CD4 (CD4 Molecule) • EPCAM (Epithelial cell adhesion molecule) • DNMT1 (DNA methyltransferase 1) • DNMT3B (DNA Methyltransferase 3 Beta) • GSPT1 (G1 To S Phase Transition 1) • BCLAF1 (BCL2 Associated Transcription Factor 1) • USP7 (Ubiquitin Specific Peptidase 7)

EPCAM expression • MSH6 expression

1year

CORRELATION BETWEEN MISMATCH REPAIR STATUS AND LYMPH NODE METASTASIS IN ENDOMETRIAL CANCER (IGCS 2023)

Of these patients, 14 (23.7%) had MMR deficiency. The MMR deficient group had a higher proportion of early stage (stage I and II) compared to the MMR proficient group (78.6% vs. 64.4%).

1 year ago

Mismatch repair

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSH6 expression

1year

Mismatch Repair Deficiency Is a Prognostic Factor Predicting Good Survival of Opisthorchis viverrini-Associated Cholangiocarcinoma at Early Cancer Stage. (PubMed, Cancers (Basel))

This study showed a high prevalence of dMMR in cholangiocarcinoma with dMMR being the independent prognostic factor for good survival, especially in early-stage CCA and for patients who received adjuvant chemotherapy. dMMR should be the marker for selecting patients to receive a specific adjuvant treatment after resection for CCA.

1 year ago

Journal • Mismatch repair

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSI-H/dMMR • MSH6 expression

1year

The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening. (PubMed, Hered Cancer Clin Pract)

In this study, immunohistochemical screening of MMR proteins for Lynch syndrome was performed in a series of prostate cancer cases. The prevalence of Lynch syndrome in localized prostate cancer was 0.8%, which is low compared with other Lynch syndrome-associated cancers.

1 year ago

Journal • Mismatch repair

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSH2 mutation • MSH6 expression

1year

Protein profiles reveal MSH6/MSH2 as a potential biomarker for hepatocellular carcinoma with microvascular invasion MSH6/MSH2 is an biomarker for HCC with HCC. (PubMed, Hepatol Res)

Our study establishes MSH6 or MSH2 as an oncogene that is prominently overexpressed during HCC progression which provides new targets for HCC with MVI.

1 year ago

Journal

MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSH6 expression

1year

Testing Immunotherapy (Atezolizumab) With or Without Chemotherapy in Locoregional MSI-H/dMMR Gastric and Gastroesophageal Junction (GEJ) Cancer (clinicaltrials.gov)

P2, N=240, Recruiting, National Cancer Institute (NCI) | Not yet recruiting --> Recruiting | Initiation date: Sep 2023 --> Jun 2024

1 year ago

Enrollment open • Trial initiation date

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSI-H/dMMR • MSH6 expression

Tecentriq (atezolizumab) • docetaxel • capecitabine • oxaliplatin • leucovorin calcium • fluorouracil topical

1year

Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study. (PubMed, Medicine (Baltimore))

Interestingly, all 16 medullary carcinomas that were analyzed showed characteristics corresponding to the presence of both dMLH1 and BRAFV600E mutation (P = .01). These results suggest that colorectal medullary carcinomas can be diagnosed based on their unique characteristics of harboring the BRAFV600E mutation and exhibiting dMLH1 expression.

1 year ago

Observational data • Journal

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

BRAF V600E • MSI-H/dMMR • BRAF V600 • MSH6 expression

1year

The Link Between Sebaceous Adenomas in Unusual Locations and Colorectal Tumors: A Case Study of Muir-Torre Syndrome (ASDP 2023)

MTS is a unique condition that necessitates continuous surveillance. When sebaceous adenoma arises in atypical regions, it is important to consider additional screening to eliminate the likelihood of MTS. Poster type: Poster Defense

1 year ago

Clinical

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSH2 mutation • MSH6 expression

1year

Concordance in detection of microsatellite instability by PCR and NGS in routinely processed tumor specimens of several cancer types. (PubMed, Cancer Med)

MSI analysis of FFPE DNA by NGS is feasible and the results show a high concordance in comparison with the monomorphic marker MSI-PCR. However, cases with a subtle MSI+ phenotype, most frequently manifest in EC, have a risk of a false-negative result by NGS and should be preferentially analyzed by capillary electrophoresis.

1 year ago

Journal • Next-generation sequencing • Microsatellite instability • Discordant

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSI-H/dMMR • MSH6 expression

1year

Clinicopathologic significance of mismatch repair protein expression in endometrioid endometrial cancer. (PubMed, Taiwan J Obstet Gynecol)

Our findings of the associations between MMR deficiency and poor prognostic factors, such as LVSI and LN metastasis, may suggest the prognostic value of MMR status in EC and need further prospective validation studies.

1 year ago

Journal • Mismatch repair

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSH6 expression

1year

A retrospective study of consistency between immunohistochemistry and polymerase chain reaction of microsatellite instability in endometrial cancer. (PubMed, PeerJ)

This study indicates that the combined use of MMR-IHC and PCR-CE MSI analyses may effectively avoid misdiagnoses of EC patients with dMMR/MSI-H. However, use of PCR-CE alone to evaluate MMR/MSI status may lead to missed diagnosis, especially for EC patients with MSH6 deficiency and presenting MSS.

1 year ago

Retrospective data • Journal • Polymerase Chain Reaction • Microsatellite instability • MSi-H Biomarker

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSI-H/dMMR • MSH6 expression

1year

Mismatch Repair Deficient (dMMR) Colorectal Carcinoma in a Pakistani Cohort: Association With Clinical and Pathological Parameters. (PubMed, Cureus)

dMMR CRC had a higher histological grade with a higher frequency of mucinous differentiation and higher T-stage. Conversely, the presence of LVI, PNI, and higher N stages were associated with pMMR CRC.

1 year ago

Journal • Mismatch repair

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSI-H/dMMR • PMS2 mutation • MSH6 expression

1year

Clinical Trial of All-trans-retinoic Acid, Bevacizumab and Atezolizumab in Colorectal Cancer (clinicaltrials.gov)

P2, N=21, Not yet recruiting, University of Texas Southwestern Medical Center

1 year ago

New P2 trial

BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CD4 (CD4 Molecule)

BRAF V600E • BRAF V600 • RAS wild-type • MSH6 expression

Avastin (bevacizumab) • Tecentriq (atezolizumab)