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    GENE:

    PMS2 (PMS1 protein homolog 2)

    i
    Other names: PMS2, PMS1 Homolog 2, Mismatch Repair System Component, PMS1 Homolog 2, Mismatch Repair Protein, Mismatch Repair Endonuclease PMS2, DNA Mismatch Repair Protein PMS2, PMS1 Protein Homolog 2, PMSL2, PMS2 Postmeiotic Segregation Increased 2, Postmeiotic Segregation Increased 2 Nirs Variant 6, PMS2 Postmeiotic Segregation Increased 2, HNPCC4, PMS2CL, MLH4
    1d
    IMMUNOREACT 8: Immune markers of local tumor spread in patients undergoing transanal excision for clinically N0 rectal cancer. (PubMed, Surgery)
    Our study showed that the association between the high proportion of epithelial cells acting as presenting cells and deep or lateral tumor spread may be explained by the presence of a greater tumor load at the site. Moreover, it showed that weak activation of CD8+ T cells within the rectal mucosa is associated with lateral tumor spread and eventually a higher recurrence rate. The mucosal level of CD8β infiltration detected at immunohistochemistry might be tested as a marker of lateral tumor spread and potentially translated into clinical practice.
    Journal • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • CD8 (cluster of differentiation 8) • CD38 (CD38 Molecule) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2) • IL2RA (Interleukin 2 receptor, alpha) • FOXP3 (Forkhead Box P3) • CD40 (CD40 Molecule) • CD80 (CD80 Molecule) • CD86 (CD86 Molecule) • ISG20 (Interferon Stimulated Exonuclease Gene 20)
    1d
    Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. (PubMed, Genet Med)
    Heterozygote frequency estimates for AD CPGs that cause AR disease provides information to facilitate discussions regarding reproductive risk. Future studies are needed to assess whether utilization of these data will influence couples' reproductive risk planning.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • SDHD (Succinate Dehydrogenase Complex Subunit D) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
    3d
    Recurrent GRHL fusions in a subset of sebaceoma: microscopic and molecular characterisation of eight cases. (PubMed, Histopathology)
    In conclusion, we report recurrent fusions of the GRHL genes in a distinctive subset of sebaceomas harbouring infundibulocystic differentiation, a frequent organoid growth pattern and lack of mismatch repair deficiency.
    Journal
    |
    AR (Androgen receptor) • BCL6 (B-cell CLL/lymphoma 6) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • BCOR (BCL6 Corepressor) • TP63 (Tumor protein 63)
    |
    AR expression • MSH6 expression
    5d
    The impact of preoperative treatment on mismatch repair protein and HER2 expression in colorectal cancer: an analysis of paired samples. (PubMed, BMC Cancer)
    PT is associated with a reduction in MMR expression, notably for the MSH2 protein, while it does not appear to influence HER2 expression.
    Retrospective data • Journal • Mismatch repair
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    HER-2 (Human epidermal growth factor receptor 2) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    |
    MSI-H/dMMR • HER-2 overexpression • HER-2 expression • MSH6 expression
    |
    5-fluorouracil • capecitabine
    6d
    Mismatch Repair (MMR) and Homologous Recombination (HR) Deficiency: Real-Life Applications of biomarkers for complementary approaches in Epithelial Ovarian Cancer (AIOM 2024)
    HRD genomic instability tests and multigene panel assessments serve as synergistic tools in EOC clinical settings, proving essential for identifying patients likely to benefit from PARPi therapy. These tools also enhance the detection of HRR and MMR gene variants, aiding in preventive care. Further investigations into the genetic profiles of HRD-negative tumors are crucial for advancing cancer risk management and developing novel therapeutic avenues.
    Clinical • Mismatch repair • BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MUTYH (MutY homolog)
    |
    BRCA2 mutation • BRCA1 mutation • HRD • BRCA wild-type
    |
    Myriad myChoice® CDx
    7d
    Advantages of next-generation sequencing (NGS) in the molecular classifi cation of endometrial carcinomas - our experience with 270 cases. (PubMed, Ceska Gynekol)
    In comparison with recommended diagnostic algorithms, NGS provides a more reliable classification of EC into particular molecular subgroups. Furthermore, NGS reveals the complex molecular genetic background in individual ECs, which is especially significant within ECs with no specific molecular profile. These data can serve as a springboard for the research of therapeutic programs committed to targeted therapy in this type of tumor.
    Journal • Next-generation sequencing • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PMS2 (PMS1 protein homolog 2) • BCOR (BCL6 Corepressor) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • POLD1 (DNA Polymerase Delta 1)
    |
    TP53 mutation • PIK3CA mutation • PTEN mutation • POLE mutation
    7d
    The guidelines for clinical practice for carriers of germline mutations in the Lynch syndrome predisposition genes MLH1, MSH2, MSH6, PMS2 and large deletions of EPCAM (4.2024). (PubMed, Klin Onkol)
    The drafting of the guidelines was organized by the Oncogenetics Working Group of the Society for Medical Genetics and Genomics of J. E. Purkyně Czech Medical Society, in cooperation with representatives of oncology, oncogynecology, and gastroenterology. The guidelines are based on the current recommendations of the National Comprehensive Cancer Network (NCCN), European Society of Medical Oncology (ESMO) and take into account the capacity of the Czech healthcare system.
    Clinical guideline • Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    |
    MSH2 mutation • PMS2 mutation • MSH6 deletion
    25d
    Simplifying Mismatch Repair Deficiency Screening in Endometrial Adenocarcinoma: Immunohistochemistry with Two-Antibody Panel (PMS2 and MSH6). (PubMed, Asian Pac J Cancer Prev)
    The simplified two-antibody MMR IHC screening approach using PMS2 and MSH6 showed high concordance with the traditional four-antibody panel. This suggests its potential as an alternative method for reflex MMR status testing in endometrial adenocarcinoma. The implementation of this approach could streamline the diagnostic process, reduce costs, and improve the detection of Lynch syndrome in affected individuals and their families. Further studies with larger cohorts and long-term follow-up are needed to validate these findings and assess the clinical implications of this approach in routine practice.
    Retrospective data • Journal • Mismatch repair
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    MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR
    1m
    Intraoperative rapid immunohistochemistry of microsatellite instability using non-contact alternating current electric field mixing. (PubMed, Gen Thorac Cardiovasc Surg)
    Rapid MMR-IHC could potentially serve as a clinical tool for intraoperative determination of tumor MSI/dMMR status. AC-mixing technology will contribute to improving pathological diagnostic capability through the development of an original and innovative rapid IHC.
    Journal • Microsatellite instability • MSi-H Biomarker • IO biomarker
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR
    1m
    Germline testing of Iranian families suspected of Lynch syndrome: molecular characterization and current surveillance of families with pathogenic variants in MSH2, MSH6, and PMS2. (PubMed, Eur J Cancer Prev)
    Collecting blood samples at patients' convenience is a possible strategy to reduce the cost of identifying Lynch syndrome through cascade testing. The genetic analysis of patients for inherited cancers would optimize the current management of Lynch syndrome in Iran by omitting noncarriers from surveillance programs.
    Journal
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    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • PMS1 (PMS1 protein homolog 1)
    1m
    Anticipation in families with MLH1-associated Lynch syndrome. (PubMed, Cancer)
    The current results demonstrated evidence in support of anticipation in families with MLH1-associated LS across all statistical models. Mutational effects on Mlh1 activity influenced the hazard for CRC/EC. Screening based on the youngest age of cancer diagnosis in MLH1-LS families is recommended.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    |
    MLH1 mutation
    1m
    Immunohistochemistry staining for DNA mismatch repair proteins in endoscopic biopsies and the corresponding surgical specimen in colorectal cancer. (PubMed, Rev Esp Enferm Dig)
    The correlation with results from the surgical specimen was notably high and discrepancies were primarily as a result of intratumoral heterogeneity within the same sample. The features of MMR protein loss in endoscopic biopsies can provide clinicians with valuable information for specific therapeutic approaches and genetic counseling.
    Journal • Mismatch repair • Biopsy
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    1m
    Association of glutaminase expression with immune-suppressive tumor microenvironment, clinicopathologic features, and clinical outcomes in endometrial cancer. (PubMed, Int J Gynecol Cancer)
    Our findings indicate that increased glutaminase expression is associated with an immune-suppressive tumor microenvironment, poor clinicopathologic features, and worse long-term outcomes in patients with endometrial cancer.
    Clinical data • Journal • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CD8 (cluster of differentiation 8) • PD-1 (Programmed cell death 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CD68 (CD68 Molecule) • FOXP3 (Forkhead Box P3) • GLS1 (Glutaminase)
    |
    MYC expression
    1m
    Analyzing the mutational landscape of prostate cancer susceptibility genes through next-generation sequencing (NGS). (PubMed, Am J Transl Res)
    This comprehensive analysis emphasizes the critical roles of BRCA1, BRCA2, TP53, and PMS2 in prostate cancer pathogenesis and highlights the importance of population-specific genetic screening.
    Journal • Next-generation sequencing • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PMS2 (PMS1 protein homolog 2)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation • BRCA1 mutation + BRCA2 mutation • PMS2 mutation • TP53 expression • BRCA1 expression • BRCA2 expression
    1m
    The molecular genetics of adrenal cushing. (PubMed, Hormones (Athens))
    Syndromic PBMAH may be due to germline pathogenic variants in MEN1, APC, or FH, causing type 1 multiple endocrine neoplasia, familial adenomatous polyposis, or hereditary leiomyomatosis-kidney cancer syndrome, respectively. PRKAR1A germline pathogenic variants are the main alteration causing PPNAD (isolated or part of Carney complex).
    Review • Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • IGF2 (Insulin-like growth factor 2) • GNAS (GNAS Complex Locus) • PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha) • PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha) • CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) • PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta) • ZNRF3 (Zinc And Ring Finger 3)
    1m
    MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence. (PubMed, Fam Cancer)
    In conclusion, our study documents distinct MMRp-crypts in MSH6-CMMRD, a phenomenon in keeping with MSH6 being a frequent target of MSI-H due to its coding microsatellite and suggesting that MSH6-CMMRD can potentially serve as a unique model system to further our understanding of MSH6's role in MSI-H tumor formation and evolution. Our findings also bear diagnostic implications; when using MMR immunohistochemistry as an ancillary tool in detecting CMMRD, awareness of these MMRp crypts can help avoid diagnostic pitfalls.
    Journal • Mismatch repair • MSi-H Biomarker
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    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2) • APC (APC Regulator Of WNT Signaling Pathway)
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    MSI-H/dMMR • APC mutation • PMS2 mutation
    1m
    Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe. (PubMed, Breast Cancer Res Treat)
    These findings identified novel variants and key genes contributing to disease development and progression. Further analysis of less studied genes, including RBMX, MRC1, ATM, CTNNB1, and CDKN2A, in TNBC may reveal new potential genes for targeted therapeutic strategies and contribute to clinical advancements in the treatment of TNBC.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • MSH6 (MutS homolog 6) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • RYR1 (Ryanodine Receptor 1) • MRC1 (Mannose Receptor C-Type 1)
    |
    TP53 mutation • STK11 mutation • RYR1 mutation
    2ms
    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.
    Journal • Mismatch repair
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    MSH6 expression
    2ms
    CHARACTERIZATION OF GENETIC ANCESTRY IN WOMEN DIAGNOSED WITH TRIPLE NEGATIVE BREAST AND HIGH-GRADE SEROSOUS OVARIAN CANCER, HEREDITARY/SPORADIC: IMPLEMENTATION OF A DIAGNOSTIC PANEL (IGCS 2024)
    116 patients with a confirmatory primary diagnosis of TNBC (N= 75) and HGSOC (N= 41) were included. A higher Native American ancestry (NAM) proportion was observed in the hereditary group across the cohort (58% vs 45.2%). Among TNBC patients, hereditary cases exhibited a higher NAM ancestry mean (0.50 (SD, 0.14)).
    Clinical • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1)
    |
    BRCA2 mutation • BRCA1 mutation • ATM mutation • PMS2 mutation • CDH1 mutation
    |
    TruSight Hereditary Cancer Panel
    2ms
    The Relationship Between DNA Mismatch Repair Status and Clinicopathologic Characteristics in Colon Cancer. (PubMed, Turk J Gastroenterol)
    Immunohistochemical staining for MMR is a practical method for predicting MSI phenotype as well as Lynch candidates. MMR expression status was found to be associated with certain clinicopathological features some of which also have prognostic significance.
    Retrospective data • Journal • Mismatch repair
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    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)
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    BRAF V600E • BRAF V600
    2ms
    Single Center Characterization of a Cohort of Salivary Gland Carcinomas. (PubMed, Life (Basel))
    MSI appears to be insignificant in SGCs. Larger cohorts are needed for verification.
    Journal
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    TP53 (Tumor protein P53) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    |
    Idylla™ MSI Test
    2ms
    PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants. (PubMed, Hered Cancer Clin Pract)
    After 15 years of genetic testing, 29 different class 4/5 variants have been detected in Norway. Almost half of Norwegian PMS2 carriers have the founder variant 989-1G > T. Penetrance of colorectal cancer in our cohort was moderate but variable, as 11.5% of those diagnosed were younger than 40 years.
    Journal
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    PMS2 (PMS1 protein homolog 2)
    |
    PMS2 mutation
    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.
    Journal • Mismatch repair • MSi-H Biomarker
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    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
    Risk of Gastric and Small Intestinal Cancer in Patients With Lynch Syndrome: Data From a Large, Community-Based US Population. (PubMed, Clin Transl Gastroenterol)
    Patients with LS, particularly MSH2 and MLH1 pathogenic variant carriers, had significantly increased lifetime risk of gastric and small intestinal cancer. Testing and treatment of H. pylori infection should be considered for all patients with LS.
    Retrospective data • Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    2ms
    The clinical utility of next generation sequencing in endometrial cancer: focusing on molecular subtyping and lynch syndrome. (PubMed, Front Genet)
    Conducting germline mutation testing for MMR genes in all patients with endometrial carcinoma can effectively prevent instances of overlooked LS diagnoses. Nevertheless, the extensive expenses associated with NGS necessitate additional validation and investigation before its clinical implementation can be fully endorsed.
    Journal • Next-generation sequencing
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    TP53 (Tumor protein P53) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    |
    TP53 mutation • MSH2 mutation • MLH1 mutation • PMS2 mutation
    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.
    Journal • Mismatch repair
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR • MSH6 expression
    2ms
    Colonoscopy and Upper Endoscopy Surveillance in Lynch Syndrome: A Longitudinal Study From a Large Tertiary Healthcare System. (PubMed, Gastro Hep Adv)
    Of 170 EGDs, an actionable finding was identified in 16% of patients during their first 3 EGDs. Surveillance colonoscopy outcomes differed in patients with LS and suggest the need to guide surveillance based on MMR gene mutation.
    Observational data • Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    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.
    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.
    Journal • Mismatch repair • PD(L)-1 Biomarker • IO biomarker
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    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
    2ms
    Gastric adenocarcinoma with intestinal progenitor cell differentiation: a morphologically underdiagnosed and more invasive distinctive type of gastric adenocarcinoma. (PubMed, Am J Cancer Res)
    Accurate identification of GAED is crucial in pathological practice, as it helps differentiate between GAED and conventional adenocarcinoma and aids in the evaluation of tumor malignancy. Furthermore, it is imperative to conduct a differential diagnosis that involves hepatoid adenocarcinoma, yolk sac tumor-like adenocarcinoma, and metastatic hepatocellular carcinoma.
    Journal
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • GPC3 (Glypican 3) • MME (Membrane Metalloendopeptidase) • CDX2 (Caudal Type Homeobox 2) • SALL4 (Spalt Like Transcription Factor 4)
    |
    PMS2 mutation
    3ms
    Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer. (PubMed, JAMA Oncol)
    Orthogonal MS testing is key in PC; the artificial intelligence classifier reclassified approximately 20% of cases, most of which were low cellularity. ICB for patients with LS or somatic MSI-H PC provided significant benefit.
    Journal • Mismatch repair • 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
    3ms
    Molecular substratification of endometrial carcinomas with no special molecular profile (NSMP) by using a limited NGS custom panel may facilitate effective patient selection for the PIK3CA-targeted therapy. (PubMed, Virchows Arch)
    Of those, 21% contain the PIK3CA mutation as a sole EC-associated oncogene mutation, while 79% harbor at least one more mutated gene. These findings may inform future healthcare planning and improve the effectiveness of EC patient selection for the PIK3CA-targeted therapy.
    Journal • Next-generation sequencing • BRCA Biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PMS2 (PMS1 protein homolog 2) • BCOR (BCL6 Corepressor) • POLD1 (DNA Polymerase Delta 1)
    |
    KRAS mutation • PIK3CA mutation • PTEN mutation • ARID1A mutation • PMS2 mutation
    3ms
    Amphicrine carcinoma of the right colon, a report of a case and review of literature. (PubMed, Rare Tumors)
    Herein, we report the case of an 80-year-old female patient who presented with melena, and who, on biopsy was diagnosed as amphicrine carcinoma that was mismatch repair deficient (MMRd) with loss of MLH1/PMS2 nuclear expression by immunohistochemistry. The histological and immunohistochemical findings of this rare entity are presented with review of pertinent literature.
    Review • Journal
    |
    MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
    |
    MSI-H/dMMR
    3ms
    The first case of Lynch syndrome associated penile cancer harboring a heterozygous PMS2 frameshift variant. (PubMed, Urol Int)
    These observations provided evidence suggesting that PSCC could be part of the LS spectrum.
    Journal • Tumor mutational burden • MSi-H Biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
    |
    TMB-H • MSI-H/dMMR • PMS2 mutation
    3ms
    Long-term survivors in 976 supratentorial glioblastoma, IDH-wildtype patients. (PubMed, J Neurosurg)
    Five-year overall survival in patients with glioblastoma, IDH-wildtype is extremely low. Predictors of a longer survival are mostly treatment factors, emphasizing the importance of a complete oncological treatment plan, when achievable. Glioblastoma, IDH-wildtype 5-year survivors could be screened for actionable targets in case of recurrence.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR (Fibroblast Growth Factor Receptor) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • PMS2 (PMS1 protein homolog 2)
    3ms
    The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory. (PubMed, Cancer Genomics Proteomics)
    Comprehensive multigene genetic testing is necessary for appropriate clinical management of pathogenic variants' carriers. Additionally, the information obtained is important for determining the risk of malignancy development in family members of the examined individuals.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D)
    3ms
    A comparative analysis of MMR immunohistochemistry panels: Evaluating the utility of four-protein versus two-protein panels in endometrial cancer patients. (PubMed, J Formos Med Assoc)
    The two-protein panel, particularly MSH6/PMS2, offers high sensitivity and negative predictive value, suggesting its potential as a cost-effective alternative to the four-protein panel in MMR testing for endometrial cancer patients.
    Journal
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    3ms
    Universal testing in endometrial cancer in Sweden. (PubMed, Hered Cancer Clin Pract)
    Based on our results and other similar studies to date we propose a screening protocol for LS on EC tumors with prescreening using IHC for the four MMR proteins on all new EC cases diagnosed before 70 years of age, followed by mutation screening of all tumors with loss of MSH2 and/or MSH6 or only PMS2, plus consideration for mutation screening of all LS genes in cases fulfilling the clinical Amsterdam II criteria regardless of MMR status on IHC.
    Journal
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    3ms
    The Clinicopathological Features and Prognoses of Lower Uterine Segment Cancer: A Retrospective, Single-Center Cohort Study. (PubMed, Int J Womens Health)
    Furthermore, this type of tumor also showed a higher incidence of vascular invasion, and the combination of chemotherapy and radiotherapy did not provide significant improvement. Thus, successful treatment of LUSC tumors requires aggressive surgical intervention and a more effective postoperative treatment approach.
    Retrospective data • Journal
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    3ms
    Effect of genetic profiling on surgical decisions at hereditary colorectal cancer syndromes. (PubMed, Heliyon)
    In conclusion this review highlights the critical role of personalized surgical plans based on genetic profiles to optimize patient outcomes and reduce cancer risk. Further research is needed to refine these strategies and enhance clinical guidelines.
    Review • Journal
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • APC (APC Regulator Of WNT Signaling Pathway)
    3ms
    Prognostic impact of tumor location and gene expression profile in sporadic desmoid tumor. (PubMed, Eur J Cancer)
    Sporadic DT location exhibits a different prognosis in terms of RFS favoring the abdominal wall compared to extra-abdominal sites. A differential gene expression profile under the same CTNNB1 T41A mutation is observed in the abdominal wall versus the thoracic wall, mainly affecting the Wnt/β-catenin, TGFβ, IFN, and TNF pathways.
    Journal • Gene Expression Profile
    |
    PMS2 (PMS1 protein homolog 2) • HOXA9 (Homeobox A9) • SOCS1 (Suppressor Of Cytokine Signaling 1) • TGFB1 (Transforming Growth Factor Beta 1) • DUSP1 (Dual Specificity Phosphatase 1) • EGR1 (Early Growth Response 1) • BMP4 (Bone Morphogenetic Protein 4)
    3ms
    Transcriptomic Meta-Analysis Identifies Upregulated Clotting and Fibrinolysis Pathways in Colorectal Cancer Tumors Containing Hereditary PMS2 Mismatch Repair Deficiency. (PubMed, MicroPubl Biol)
    These pathways have been associated with tumor growth, invasiveness, and metastasis. This work provides support for further exploration into the role of PMS2 in tumor development, and as a potential therapeutic mechanism.
    Retrospective data • Journal • Mismatch repair
    |
    MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)