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    GENE:

    MSH6 (MutS homolog 6)

    i
    Other names: MSH6, GTBP, MutS homolog 6
    1d
    A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families (clinicaltrials.gov)
    P=N/A, N=150, Not yet recruiting, University of Michigan Rogel Cancer Center
    New trial
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    5d
    Germline Variants in Bladder and Upper Tract Urothelial Cancers: Prevalence and Clinical Context in a Large Testing Registry. (PubMed, Eur Urol Open Sci)
    However, many patients with these variants have urothelial cancer of the bladder only. Broader genetic testing, particularly in those with a suggestive personal or family cancer history, may help identify patients at risk who might otherwise be missed.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    5d
    Increasing Use of Germline Genetic Testing in Pancreatic Ductal Adenocarcinoma and Relationship to Clinical Outcome: A Single-Institution Study. (PubMed, JCO Precis Oncol)
    GGT prevalence has increased at RPCCC and informed treatment decisions. Universal point-of-care testing is being implemented with the goal of completing testing for all patients with PDAC seen at RPCCC.
    Clinical data • Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSH6 (MutS homolog 6)
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    BRCA2 mutation • BRCA1 mutation
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    Keytruda (pembrolizumab) • Lynparza (olaparib)
    8d
    Immunohistochemical Expression of MLH1 and MSH2 in Colorectal Carcinoma and Its Correlation With Clinicopathological Parameters. (PubMed, Cureus)
    MLH1 loss was closely linked to early-onset CRC and may point to a hereditary risk. Regular testing for MMR proteins can help with diagnosis, screening for Lynch syndrome, and choosing the best treatment.
    Journal • 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)
    8d
    Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan. (PubMed, Sci Rep)
    Among overall identified PVs, six were novel: APC c.3405T > G, APC c.419_422delAGAG, PMS1 c.1258delC, MLH1 c.1291_1292delAT, NBN c.877delA, and EPCAM c.184 + 1G > A. The observed prevalence of clinically actionable PVs in both patients and their relatives highlights the potential clinical value of multigene panel testing and cascade screening strategies in Kazakhstan.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • EPCAM (Epithelial cell adhesion molecule) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • PMS1 (PMS1 protein homolog 1)
    8d
    Short-course Radiotherapy or Long-course Chemoradiation Followed by mFOLFOXIRI Consolidation Chemotherapy for Organ Preservation in Low Rectal Cancer (clinicaltrials.gov)
    P2, N=66, Active, not recruiting, Pei-Rong Ding | Recruiting --> Active, not recruiting | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Jun 2025 --> Sep 2025
    Enrollment closed • Trial completion date • Trial primary completion date
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    MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    5-fluorouracil • capecitabine • oxaliplatin • irinotecan
    9d
    NCI-2017-02296: Testing Olaparib in Patients With Advanced or Metastatic (Cancer That Has Spread) Bladder Cancer and Other Genitourinary Tumors With DNA-Repair Genetic Changes (clinicaltrials.gov)
    P2, N=60, Suspended, National Cancer Institute (NCI) | Recruiting --> Suspended
    Trial suspension • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ABL1 (ABL proto-oncogene 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • NPM1 (Nucleophosmin 1) • POLE (DNA Polymerase Epsilon) • CCND1 (Cyclin D1) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • BRD4 (Bromodomain Containing 4) • DOT1L (DOT1 Like Histone Lysine Methyltransferase) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • IKBKE (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon) • FANCC (FA Complementation Group C)
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    PALB2 mutation • BRIP1 mutation
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    FoundationOne® CDx • FoundationOne® Liquid CDx
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    Lynparza (olaparib)
    9d
    A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals (clinicaltrials.gov)
    P=N/A, N=200, Recruiting, Nuvance Health | Trial completion date: Nov 2026 --> Nov 2030 | Trial primary completion date: Nov 2026 --> Nov 2030
    Trial completion date • Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    BRCA1 mutation • ATM mutation • PALB2 mutation
    14d
    Prevalence and clinicopathologic features of mismatch repair-deficient endometrial cancer in Japanese patients younger than 50 years: a single-center prospective observational study. (PubMed, Int J Clin Oncol)
    In this prospective Japanese cohort, approximately one in four patients with EC had dMMR, with clinicopathologic features skewing toward a higher grade. Notably, many dMMR tumors were grade 2-3, suggesting that a substantial proportion of patients may fall outside the conventional criteria for fertility-sparing treatment.
    Observational data • Journal • Mismatch repair • dMMR
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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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    MSI-H/dMMR
    14d
    Characterizing therapeutic target antigen expression in anaplastic carcinoma of the ovary. (PubMed, Gynecol Oncol Rep)
    FOLR1 expression in the two cases was weak and below currently used clinical cutoffs for mirvetuximab soravtansine eligibility...Only a subset of anaplastic carcinomas of the ovary express targetable tumor antigens at low levels, suggesting that these may have limited benefit from antibody-drug conjugates. Likewise, due to mismatch repair proficiency and low tumor mutational burden, immunotherapy is unlikely to be effective in this rare disease.
    Journal • Tumor mutational burden • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TMB (Tumor Mutational Burden) • FOLR1 ( Folate receptor alpha ) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
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    HER-2 expression • TMB-L • FOLR1 expression
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    Elahere (mirvetuximab soravtansine-gynx)
    14d
    POLE-mutated endometrial carcinoma with extreme morphological and molecular heterogeneity: spatial clonal divergence in a multiple-classifier tumor. (PubMed, Virchows Arch)
    This case provides direct morphologic and molecular evidence of spatial clonal evolution in a multiple-classifier endometrial carcinoma. The clinical implications of this spatial heterogeneity remain uncertain and warrant further investigation.
    Journal • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • POLE (DNA Polymerase Epsilon) • MSH6 (MutS homolog 6)
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    ARID1A mutation • POLE mutation
    15d
    Mapping of DOG1 expression in colorectal carcinomas. (PubMed, Pathology)
    DOG1-positive CAFs were associated with better overall survival. This study suggests that DOG1 expression is detected in a high proportion of CRC because it is expressed in neoplastic cells of various histological subtypes of CRC that secrete gel-forming mucins, independently of mucinous features or in CAFs of conventional adenocarcinomas.
    Journal • 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) • KRT7 (Keratin-7) • CDX2 (Caudal Type Homeobox 2) • ANO1 (Anoctamin 1) • KRT20 (Keratin 20) • MUC2 (Mucin 2) • MUC5AC (Mucin 5AC) • MUC6 (Mucin 6)
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    KRAS mutation • MSI-H/dMMR • BRAF mutation • RAS mutation