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GENE:

PMS1 (PMS1 protein homolog 1)

News alerts, weekly reports and conference planners

3ms

KLF7 as a biomarker in the pre-metastatic state promotes colorectal liver metastasis via TGFβ autocrine signaling. (PubMed, Cancer Lett)

This result highlights EGCG as a promising compound for the treatment of colorectal cancer (CRC) with high KLF7 expression. Through this research, we established a systematic framework defining two PMS subtypes and identified KLF7 as a pivotal driver of CRLM in PMS1 through TGFβ autocrine activation.

3 months ago

Journal

PMS2 (PMS1 protein homolog 2) • PMS1 (PMS1 protein homolog 1)

4ms

Molecular Characterization of Seminoma Utilizing the AACR Project GENIE: A Retrospective Observational Study. (PubMed, Cancers (Basel))

This study provided a comprehensive molecular and genetic profiling of seminoma including key genetic alterations, affected pathways, and potential therapeutic strategies. Moreover, overlap between pathways and gene mutations provides the potential for alternative treatment options for seminoma via multiple pathways.

4 months ago

Observational data • Retrospective data • Journal

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • AXL (AXL Receptor Tyrosine Kinase) • KMT2C (Lysine Methyltransferase 2C) • STAG2 (Stromal Antigen 2) • CCND2 (Cyclin D2) • PMS1 (PMS1 protein homolog 1) • BRD4 (Bromodomain Containing 4) • AMER1 (APC Membrane Recruitment Protein 1) • CDKN1B (Cyclin dependent kinase inhibitor 1B) • H3-5 (H3.5 Histone)

KRAS mutation

5ms

Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry. (PubMed, Nat Commun)

Besides notable impact of DNA polymerases, including POLG, Fanconi anaemia genes include FANCD2, FANCA, FANCG, ERCC4, FANCE and FANCI, while DNA mismatch repair genes MSH3 and PMS1 outranked known namesakes MSH6 and PMS2. This study provides insights into the spectrum of African-relevant potentially pathogenic PCa variants, highlighting much-needed gene candidates for ancestry-inclusive germline testing.

5 months ago

Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • LRP1B (LDL Receptor Related Protein 1B) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • PMS2 (PMS1 protein homolog 2) • FAT1 (FAT atypical cadherin 1) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MSH3 (MutS Homolog 3) • PREX2 (Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 2) • PMS1 (PMS1 protein homolog 1) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • FANCI (FA Complementation Group I) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • HOXB13 (Homeobox B13)

6ms

Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel. (PubMed, Front Oncol)

The mutational landscape aligns with findings in other populations while highlighting novel variants of clinical relevance. These findings highlight the value of customized panels for improving genetic screening in small-scale healthcare facilities.

6 months ago

Journal • Next-generation sequencing

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule) • MUTYH (MutY homolog) • PMS1 (PMS1 protein homolog 1)

6ms

Unveiling Replication Timing-Dependent Mutational Biases: Mechanistic Insights from Gene Knockouts and Genotoxins Exposures. (PubMed, Int J Mol Sci)

Our systematic bioinformatics approach identifies new DNA repair genes and mutagens that exhibit differential activity during the S phase. These findings pave the way for further investigation of factors that contribute to genome instability during cancer transformation.

6 months ago

Journal • PARP Biomarker

TP53 (Tumor protein P53) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • PMS1 (PMS1 protein homolog 1) • POLE4 (DNA Polymerase Epsilon 4 Accessory Subunit) • POLG2 (DNA Polymerase Gamma 2, Accessory Subunit) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)

7ms

Mismatch Repair Protein Deficiency and Its Relationship with Clinicopathological Factors in Endometrial Cancer: A Retrospective Study. (PubMed, J Cancer)

In conclusion, a notable association between the expression of MMR proteins and the age of the patient was observed in this cohort. No significant associations were detected between other clinical, surgical or pathological factors and MMR protein expression.

7 months ago

Retrospective data • Journal • Mismatch repair

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

MSI-H/dMMR

8ms

Mutant KRAS -Targeted Long Peptide Vaccine for Patients at High Risk of Developing Pancreatic Cancer (clinicaltrials.gov)

P1, N=37, Recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Trial completion date: May 2026 --> May 2031 | Trial primary completion date: May 2026 --> Oct 2027

8 months ago

Trial completion date • Trial primary completion date

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) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule) • PMS1 (PMS1 protein homolog 1)

PALB2 mutation

Hiltonol (poly-ICLC)

10ms

CHOMP: A Study of CHeckpoint Inhibitors in Men With prOgressive Metastatic Castrate Resistant Prostate Cancer Characterized by a Mismatch Repair Deficiency or Biallelic CDK12 Inactivation (clinicaltrials.gov)

P2, N=40, Recruiting, VA Office of Research and Development | N=30 --> 40 | Trial primary completion date: Mar 2025 --> Dec 2025

10 months ago

Enrollment change • Trial primary completion date

EGFR (Epidermal growth factor receptor) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • PMS1 (PMS1 protein homolog 1)

MSI-H/dMMR

Keytruda (pembrolizumab) • abiraterone acetate

11ms

Germline variants in patients from the Iranian hereditary colorectal cancer registry. (PubMed, Cancer Cell Int)

The study identified crucial germline variants for hereditary polyposis and non-polyposis CRC pathogenesis in the Iranian population. A selective strategy and cascade genetic testing are recommended for the diagnosis of hereditary colorectal cancer syndromes.

11 months ago

Journal • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • NOTCH1 (Notch 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • ERCC1 (Excision repair cross-complementation group 1) • APC (APC Regulator Of WNT Signaling Pathway) • CDH1 (Cadherin 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • MSH3 (MutS Homolog 3) • MUTYH (MutY homolog) • PMS1 (PMS1 protein homolog 1) • WRN (WRN RecQ Like Helicase) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit)

11ms

Clinicopathologic and Molecular Analysis of Malignant Neoplasms With Yolk Sac Tumor Differentiation in Women 40 Years of Age and Older. (PubMed, Am J Surg Pathol)

The findings in the pure YSTs in older women suggest that for some, the origin could be germ cell as they harbor similar alterations as those described in pure YSTs in young women, whereas in other "pure" YSTs, the molecular profile aligns with previously described SDYSTs, which suggests a SDYST with an unsampled Müllerian carcinoma component rather than a germ cell origin. In SDYSTs, shared alterations are consistent with prior studies and suggest a somatic rather than germ-cell origin.

11 months ago

Journal

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • ARID1B (AT-Rich Interaction Domain 1B) • PTPRT (Protein tyrosine phosphatase receptor type T) • PMS1 (PMS1 protein homolog 1) • DICER1 (Dicer 1 Ribonuclease III)

1year

RIOK1: A Novel Oncogenic Driver in Hepatocellular Carcinoma. (PubMed, Cancer Med)

Our findings suggest that RIOK1 is a novel oncogenic driver that may serve as a potential diagnostic and therapeutic target for HCC.

1 year ago

Journal

BARD1 (BRCA1 Associated RING Domain 1) • CCNA2 (Cyclin A2) • PMS1 (PMS1 protein homolog 1) • CCNB1 (Cyclin B1) • SMARCA5 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 5)

1year

Genomic characterization of Huntington's disease genetic modifiers informs drug target tractability. (PubMed, Brain Commun)

Notably, HTT itself ranked poorly as a theoretical drug target, emphasizing the importance of exploring modifier-based alternative targets. In conclusion, our study highlights the importance of human genomic information to prioritize Huntington's disease modifier genes as drug targets, providing a basis for future therapeutic development in Huntington's disease and other repeat expansion disorders.

1 year ago

Journal

MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • PMS1 (PMS1 protein homolog 1) • LRIG1 (Leucine Rich Repeats And Immunoglobulin Like Domains 1)