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    BIOMARKER:

    PMS1 mutation

    i
    Other names: PMS1 Homolog 1 Mismatch Repair System Component, DNA Mismatch Repair Protein PMS1, PMS1 Protein Homolog 1, PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae), Postmeiotic Segregation Increased (S. Cerevisiae) 1, PMS1 Postmeiotic Segregation Increased 1, Human Homolog Of Yeast MutL, Mismatch Repair Gene PMSL1, HNPCC3, HPMS1, MLH2, PMSL1
    Entrez ID:
    5378
    Related biomarkers:
    Expression
    2ms
    GC 2nd Line Durvalumab(MEDI4736)/Tremelimumab Plus Paclitaxel Study (clinicaltrials.gov)
    P1/2, N=58, Completed, Asan Medical Center | Active, not recruiting --> Completed
    Trial completion
    |
    PD-L1 (Programmed death ligand 1) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • POLD1 (DNA Polymerase Delta 1) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • POLD2 (DNA Polymerase Delta 2)
    |
    MSI-H/dMMR • MSH2 mutation • MLH1 mutation • PD-L1 amplification • POLD1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation • POLD2 mutation
    |
    Imfinzi (durvalumab) • paclitaxel • Imjudo (tremelimumab)
    6ms
    Prevalence of genomic alterations in Xerna tumor microenvironment subtypes in triple negative breast cancer patients (SABCS 2023)
    The Xerna TME Panel classified 49.3% of TNBC patient tumors to IA or IS, suggesting they may respond to ICI therapy. Many (56.2%) patient tumors harbored alterations associated with FDA-approved therapies, providing the potential for novel combination therapies. These findings warrant further study and clinical validation in TNBC patients treated with ICI therapy.
    Clinical • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS1 (PMS1 protein homolog 1)
    |
    TMB-H • PMS1 mutation
    |
    OncoExTra™ test • Xerna TME™ Panel
    8ms
    A unique case of rectal cancer with coexistence of multiple pathways of carcinogenesis. (PubMed, World J Surg Oncol)
    The case is unique suggesting a possible interaction between the two pathways and contributing to carcinogenesis in this patient. This also suggests need for a thorough germline and somatic mutation evaluation in select colorectal cancer patients to direct a tailored therapy.
    Journal
    |
    TP53 (Tumor protein P53) • MSH6 (MutS homolog 6) • APC (APC Regulator Of WNT Signaling Pathway) • PMS1 (PMS1 protein homolog 1)
    |
    TP53 mutation • APC mutation • MSH6 mutation • PMS1 mutation
    |
    capecitabine
    9ms
    ANALYSIS OF THE MOLECULAR PROFILE OF ENDOMETRIAL CANCER DEPENDING ON MICROSATELITE INSTABILITY (ESGO 2023)
    A higher frequency of deletions with the displacement of the reading frame is observed in the SI cohort. TMB index in IM reveals tumors with MI have a better response to treatment with immune checkpoint inhibitors.
    Tumor mutational burden • IO biomarker
    |
    TP53 (Tumor protein P53) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • MLH1 (MutL homolog 1) • KMT2D (Lysine Methyltransferase 2D) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • JAK1 (Janus Kinase 1) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • PMS1 (PMS1 protein homolog 1)
    |
    PTEN mutation • MSH2 mutation • MLH1 mutation • PMS1 mutation
    1year
    Microsatellite Instability and Aberrant Pre-mRNA Splicing: How Intimate Is It? (PubMed, Genes (Basel))
    Because both the ATM and MRE11 genes, which as act as players in the MNR (MRE11/NBS1 (Nibrin)/RAD50 (RAD50 double strand break repair protein) DNA damage repair system, participate in double strand breaks (DSB) repair, their frequent splicing alterations in MSI cancers lead to impaired activity. This reveals the existence of a functional link between the MMR/DSB repair systems and the pre-mRNA splicing machinery, the diverted function of which is the consequence of mutations in the MS sequences.
    Journal • Microsatellite instability
    |
    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • MSH3 (MutS Homolog 3) • MRE11A (MRE11 homolog, double strand break repair nuclease) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • PMS1 (PMS1 protein homolog 1) • HSPH1 (Heat Shock Protein Family H (Hsp110) Member 1)
    |
    PMS2 mutation • MLH3 mutation • PMS1 mutation
    1year
    Association of Reported Candidate Monogenic Genes With Lung Cancer Risk. (PubMed, Clin Lung Cancer)
    This study provides statistical evidence for association of previously reported genes and lung cancer risk and has clinical utility for risk assessment and genetic counseling.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • MSH6 (MutS homolog 6) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • PMS1 (PMS1 protein homolog 1) • FANCD2 (FA Complementation Group D2)
    |
    PMS1 mutation • RAD51 mutation
    over1year
    GC 2nd Line Durvalumab(MEDI4736)/Tremelimumab Plus Paclitaxel Study (clinicaltrials.gov)
    P1/2, N=58, Active, not recruiting, Asan Medical Center | Unknown status --> Active, not recruiting | Trial completion date: Jun 2021 --> Jun 2023 | Trial primary completion date: Jun 2021 --> Jun 2023
    Enrollment closed • Trial completion date • Trial primary completion date • Metastases
    |
    PD-L1 (Programmed death ligand 1) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • POLD1 (DNA Polymerase Delta 1) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • POLD2 (DNA Polymerase Delta 2)
    |
    MSI-H/dMMR • MSH2 mutation • MLH1 mutation • PD-L1 amplification • POLD1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation • POLD2 mutation
    |
    Imfinzi (durvalumab) • paclitaxel • Imjudo (tremelimumab)
    over1year
    Analysis of Concordance Between NGS-MSI and IHC-MMR from 180,000 Solid Tumors (USCAP 2023)
    Analysis of 180,000 tumors revealed a high concordance of IHC-MMR/NGS-MSI with a rate of 99.7%. In 20% of MMRp/MSI-H cases, interpretation of IHC lead to misdiagnosis that the NGS-MSI would have avoided. Clinical outcome from a large cohort of patients show NGS is not inferior compared to IHC in identifying patients with MSI-H/MMRd.
    MSi-H Biomarker • IO biomarker • Next-generation sequencing • Discordant
    |
    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1)
    |
    MSI-H/dMMR • MSH2 mutation • MLH1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation
    |
    MI Tumor Seek™
    over1year
    Analysis of concordance between microsatellite instability by next generation sequencing (NGS-MSI) and mismatch repair deficiency by immunohistochemistry (IHC-MMR) in >28,000 colorectal tumors. (ASCO-GI 2023)
    Here we report from >28,000 CRC tumors that the concordance of IHC-MMR/NGS-MSI is 99.74%. Clinical outcome from a large cohort of patients show NGS is not inferior compared to IHC in identifying patients with MSI-H/MMRd. The additional lens that NGS-MSI offers is of value in identifying CRC patients who may benefit from ICI therapy.
    Next-generation sequencing • Mismatch repair • Microsatellite instability • MSi-H Biomarker • IO biomarker • Discordant
    |
    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1)
    |
    MSI-H/dMMR • MSH2 mutation • MLH1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation
    over1year
    Prognostic Role of DNA Damage Response Genes Mutations and their Association With the Sensitivity of Olaparib in Prostate Cancer Patients. (PubMed, Cancer Control)
    These results demonstrate that mutation in any DDR pathway results in a poor prognosis for PCa patients. Furthermore, mutations in ATR, BLM, and MLH1 or the expression of POLR2L, PMS1, FANCE, and other genes significantly influence Olaparib sensitivity, which may be underlying therapeutic targets in the future.
    Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • ATR (Ataxia telangiectasia and Rad3-related protein) • PMS1 (PMS1 protein homolog 1) • FANCE (FA Complementation Group E) • POLR2L (RNA Polymerase II, I And III Subunit L)
    |
    BLM mutation • PMS1 mutation • POLR2L expression
    |
    Lynparza (olaparib)
    almost2years
    Mutant KRAS -Targeted Long Peptide Vaccine for Patients at High Risk of Developing Pancreatic Cancer (clinicaltrials.gov)
    P1, N=25, Recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Not yet recruiting --> Recruiting
    Enrollment open
    |
    KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CD8 (cluster of differentiation 8) • IFNG (Interferon, gamma) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CD4 (CD4 Molecule) • EPCAM (Epithelial cell adhesion molecule) • PMS1 (PMS1 protein homolog 1)
    |
    KRAS mutation • PALB2 mutation • CDKN2A mutation • MLH1 mutation • PMS1 mutation
    |
    Hiltonol (poly-ICLC) • Undisclosed KRAS peptide vaccine
    almost2years
    The clinical and genomic characteristics of MSI-h/dMMR lung cancer. (ASCO 2022)
    We analyzed clinical and genomic characteristics of MSI-H/dMMR lung cancer for the first time. Our data showed that MSI-H/dMMR was found in 1.16% lung cancer patients and more likely to occur in squamous cell lung carcinoma. MSI-H/dMMR in lung cancer was associated with higher TMB and may well enhance anti-tumor immunity.
    Clinical • Tumor Mutational Burden • MSi-H Biomarker • IO biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CD4 (CD4 Molecule) • PMS1 (PMS1 protein homolog 1)
    |
    TMB-H • MSI-H/dMMR • PMS1 mutation
    2years
    Comprehensive genomic profiling to identify biomarkers predictive of response to immunotherapy (AACR 2022)
    Our study found I-O sensitive BMs in common and in rare aggressive cancers. The GEM ExTra assay can stratify cancer patients for likely responsiveness to immunotherapy. >
    Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • STK11 (Serine/threonine kinase 11) • JAK2 (Janus kinase 2) • POLE (DNA Polymerase Epsilon) • PBRM1 (Polybromo 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • B2M (Beta-2-microglobulin) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • JAK1 (Janus Kinase 1) • POLD1 (DNA Polymerase Delta 1) • IDO1 (Indoleamine 2,3-dioxygenase 1) • ARID2 (AT-Rich Interaction Domain 2) • PMS1 (PMS1 protein homolog 1)
    |
    KRAS mutation • TMB-H • MSI-H/dMMR • STK11 mutation • PBRM1 mutation • MSH2 mutation • POLD1 mutation • PMS1 mutation
    |
    Oncomap™ ExTra test
    2years
    Prevalence and Spectrum of Predisposition Genes With Germline Mutations Among Chinese Patients With Bowel Cancer. (PubMed, Front Genet)
    Chinese patients with bowel cancer exhibited a distinct spectrum of germline variants, with distinct molecular characteristics such as TMB and DDR. Furthermore, the information on somatic mutations obtained from TCGA database indicated that a deeper understanding of the interactions among DDR and immune cells would be useful to further investigate the role of DDR in bowel cancer.
    Journal • Tumor Mutational Burden
    |
    TMB (Tumor Mutational Burden) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • CDH1 (Cadherin 1) • RAD51D (RAD51 paralog D) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • FLCN (Folliculin) • FANCD2 (FA Complementation Group D2)
    |
    ATM mutation • APC mutation • MLH1 mutation • RAD51D mutation • MSH3 mutation • PMS1 mutation • RAD51 mutation
    over2years
    Mutant Kirsten Rat Sarcoma (KRAS) -Targeted Long Peptide Vaccine for Patients at High Risk of Developing Pancreatic Cancer (clinicaltrials.gov)
    P1, N=25, Not yet recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Trial completion date: Dec 2025 --> Mar 2026 | Initiation date: Dec 2021 --> Mar 2022 | Trial primary completion date: Dec 2025 --> Mar 2026
    Preclinical • Trial completion date • Trial initiation date • Trial primary completion date
    |
    KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CD8 (cluster of differentiation 8) • IFNG (Interferon, gamma) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CD4 (CD4 Molecule) • EPCAM (Epithelial cell adhesion molecule) • PMS1 (PMS1 protein homolog 1)
    |
    KRAS mutation • PALB2 mutation • CDKN2A mutation • PMS1 mutation
    |
    Hiltonol (poly-ICLC) • Undisclosed KRAS peptide vaccine
    over2years
    Genetic analysis of 45 patients with suspected Lynch syndrome using next-generation sequencing (PubMed, Zhonghua Zhong Liu Za Zhi)
    High-throughput NGS is a quick, accurate and reliable technique to identify gene variants in suspected Lynch syndrome patients. It has a wide application prospect for gene testing of tumors associated with Lynch syndrome.
    Clinical • Journal • Next-generation sequencing
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • PMS1 (PMS1 protein homolog 1)
    |
    MSH2 mutation • MLH1 mutation • PMS1 mutation • MSH6 expression
    over2years
    Mutant Kirsten Rat Sarcoma (KRAS) -Targeted Long Peptide Vaccine for Patients at High Risk of Developing Pancreatic Cancer (clinicaltrials.gov)
    P1, N=25, Not yet recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
    Clinical • New P1 trial • Preclinical
    |
    KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CD8 (cluster of differentiation 8) • IFNG (Interferon, gamma) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CD4 (CD4 Molecule) • EPCAM (Epithelial cell adhesion molecule) • PMS1 (PMS1 protein homolog 1)
    |
    KRAS mutation • PALB2 mutation • CDKN2A mutation • PMS1 mutation
    |
    Hiltonol (poly-ICLC) • Undisclosed KRAS peptide vaccine
    3years
    Alterations of DNA damage repair in cancer: from mechanisms to applications. (PubMed, Ann Transl Med)
    Theoretical studies on the co-administration of DDR inhibitors and other anticancer therapies, including chemotherapy, radiotherapy, immunotherapy, endocrine therapy, and epigenetic drugs, hold promise for cancer treatments. In this review, we focus on the basic mechanisms, characteristics, current applications, and combination strategies of DDR pathways in the anticancer field.
    Review • Journal • BRCA Biomarker • IO biomarker
    |
    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) • PMS1 (PMS1 protein homolog 1)
    |
    PMS2 mutation • PMS1 mutation
    over3years
    Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population. (PubMed, Cancer Med)
    In summary, we report the mutational landscape of CRC in a Taiwanese population. NGS is a cost-effective and time-saving method, and we believe that NGS will help clinicians to treat CRC patients in the near future.
    Clinical • Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • SMAD4 (SMAD family member 4) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • PMS2 (PMS1 protein homolog 2) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • SOX9 (SRY-Box Transcription Factor 9) • TCF7L2 (Transcription Factor 7 Like 2) • MSH4 (MutS Homolog 4)
    |
    TP53 mutation • KRAS mutation • NRAS mutation • PIK3CA mutation • MSH3 mutation • PMS2 mutation • PIK3R1 mutation • PMS1 mutation
    almost4years
    Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome. (PubMed, World J Gastroenterol)
    The genetic mutations in hamartoma polyp tissue of PJS are complex and diverse. Moreover, other gene mutations in PJS hamartoma polyp tissue were observed, with the exception of LKB1/STK11 gene, especially the DNA mismatch repair gene (MMR). Colorectal hamartoma polyps with LKB1/STK11 mutations were larger in diameter than those with other gene mutations.
    Journal
    |
    PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule) • MUTYH (MutY homolog) • PMS1 (PMS1 protein homolog 1)
    |
    STK11 mutation • MSH2 mutation • PMS1 mutation
    almost4years
    [VIRTUAL] MMR deficiency of lung cancer patients. (ASCO 2020)
    Here is an interesting lung cancer case which was called EGFR T790M, TP53 and MSH2 somatic mutations without any germline mutations, and this patient showed no response to Osimertinib... MMR deficiency was found in 4.3% chinese lung cancer and 27% of them concurrent with EGFR. Research Funding: None
    Clinical
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1)
    |
    TP53 mutation • EGFR mutation • EGFR T790M • MSH2 mutation • MLH1 mutation • MSH3 mutation • PMS2 mutation • PMS1 mutation
    |
    Tagrisso (osimertinib)
    almost4years
    [VIRTUAL] Clinicopathologic analysis of MMR gene mutations and uterine adenocarcinomas: An updated population-based study. (ASCO 2020)
    EEC G3 harbored the most MMR mutations among EC. EEC G3 and USC could be more considered to screen MMR mutation due to more MMR mutations occurred in EEC G3 and USC than did among EEC G2 and EEC G1. Besides MLH1, MSH2, MSH6, PMS2 and EPCAM mutation, MLH3, MSH3, PMS1 mutation could be screened in patients with newly diagnosed endometrial carcinoma.
    Clinical
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1)
    |
    MSH2 mutation • MLH1 mutation • MSH3 mutation • PMS2 mutation • MLH3 mutation • PMS1 mutation
    almost4years
    [VIRTUAL] Characters of germline mutations in Chinese non-small cell lung cancer patients. (ASCO 2020)
    In this study, there is no significant correlation of germline susceptibility gene mutations with clinical and genetic characters of NSCLC patients. Further investigation on germline genetic aberrations of NSCLC is definitely needed to clarify germline impact on the etiology of NSCLC. Research Funding: None
    Clinical • BRCA Biomarker
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • ATR (Ataxia telangiectasia and Rad3-related protein) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • MRE11A (MRE11 homolog, double strand break repair nuclease) • MUTYH (MutY homolog) • PMS1 (PMS1 protein homolog 1)
    |
    KRAS mutation • BRCA2 mutation • PALB2 mutation • BRIP1 mutation • RAD51C mutation • RAD50 mutation • BLM mutation • MRE11A mutation • PMS1 mutation