News - MSH2 mutation - LARVOL VERI

19h

MesaCAPP: Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome (clinicaltrials.gov)

P2, N=150, Recruiting, Ann-Sofie Backman | N=260 --> 150 | Trial completion date: Oct 2038 --> Sep 2045 | Trial primary completion date: Oct 2028 --> Sep 2032

19 hours ago

Enrollment change • Trial completion date • Trial primary completion date

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

MSH2 mutation • MLH1 mutation

23d

Feasibility Study: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) Intervention (clinicaltrials.gov)

P=N/A, N=247, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting | N=80 --> 247

23 days ago

Enrollment closed • Enrollment change

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule)

BRCA1 mutation • MSH2 mutation • PMS2 mutation

27d

A novel lynch syndrome kindred with hereditary adrenal cortical carcinoma. (PubMed, Cancer Genet)

A review of the literature identifies an association between germline MSH2 mutations and ACC, suggesting a potential biological basis for carcinogenesis. This case highlights the importance of ACC screening for patients with Lynch Syndrome and a family history of adrenal cortical carcinoma due to the high mortality from this malignancy. This case also highlights the importance of separate germline and somatic testing for patients with a concerning personal or family history of cancers.

27 days ago

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

MSH2 (MutS Homolog 2)

MSH2 mutation • MSH2 deletion

Keytruda (pembrolizumab)

MSH2-Mutated Lynch Syndrome With 9 Synchronous Colon and Rectum Adenocarcinomas: An Extremely Rare Case Report. (PubMed, Int J Surg Pathol)

Additionally, the report explores various aspects of having synchronous colorectal cancers. More studies are needed to clarify the clinicopathologic and molecular landscape of these rare tumors and identify the best management and treatment strategies for these patients.

1 month ago

Journal

MSH2 (MutS Homolog 2)

MSH2 mutation

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.

1 month ago

Clinical guideline • Journal

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

Germline mismatch repair gene mutations in children with tumors: a case series from two centers. (PubMed, Transl Pediatr)

A better diagnostic approach is to perform genetic testing to rule out the risk as early as possible when a newborn presents with cafe-au-lait spots, which are a typical feature of hereditary syndromes. Therefore, it is important to use germline genetic testing, combined with clinical phenotypic observation, to establish a diagnosis of a cancer susceptibility syndrome caused by an MMR gene mutation.

1 month ago

Journal • Mismatch repair

NF1 (Neurofibromin 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

MSH6 mutation • MSH2 mutation • MLH1 mutation

Cancer Preventive Vaccine Nous-209 for Lynch Syndrome Patients (clinicaltrials.gov)

P1/2, N=60, Active, not recruiting, National Cancer Institute (NCI) | Recruiting --> Active, not recruiting

1 month ago

Enrollment closed

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

BRAF mutation • MSH2 mutation • MLH1 mutation • PMS2 mutation

NOUS-209

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice. (PubMed, iScience)

The top five GTS in CNS tumors showed high genetic heterogeneity GTS analysis reclassifies CNS tumors as "NEC." 53.88% of patients diagnosed with GTS harbor potential precision oncology therapy target mutations. The results of our study deepen our understanding of CNS tumors, provide a reference direction for the future design of clinical trials, and further expect to improve disease entire process management in CNS tumors.

1 month ago

Journal • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • MSH2 (MutS Homolog 2)

TP53 mutation • NF1 mutation • MSH2 mutation

2ms

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.

2 months 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

2ms

Cohort Study of Pancreatic Cancer Risk (clinicaltrials.gov)

P=N/A, N=419, Active, not recruiting, Mayo Clinic | N=2000 --> 419

2 months ago

Enrollment change

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • EPCAM (Epithelial cell adhesion molecule)

TP53 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • APC mutation • MSH2 mutation • PMS2 mutation

2ms

Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma. (PubMed, Front Oncol)

Additional mutations detected in the tumor included TP53, PTEN, and a PTPRZ1-MET fusion. This represents the first reported case of a CHEK2 germline mutation in giant cell glioblastoma, further supporting the significance of impaired DNA repair mechanisms in the development of this disease.

2 months ago

Journal

TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)

TP53 mutation • PTEN mutation • CHEK2 mutation • MSH2 mutation • MET fusion

2ms

Clinicopathological and Molecular Genetic Insights into EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma. (PubMed, Hum Pathol)

Compared with the FDCS group, EBV+ IFDCS patients had a significantly longer median PFS time (p<0.05). In conclusion, EBV+ IFDCS represents a group of tumors with unique clinical, morphological, immunological, prognostic, and molecular cytogenetic characteristics.

2 months ago

Journal

EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • RUNX1 (RUNX Family Transcription Factor 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • STAT3 (Signal Transducer And Activator Of Transcription 3) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • MTHFR (Methylenetetrahydrofolate Reductase) • SSTR2 (Somatostatin Receptor 2) • NQO1 (NAD(P)H dehydrogenase, quinone 1) • FANCG (FA Complementation Group G) • CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) • CR1 (Complement C3b/C4b Receptor 1) • FCER2 (Fc Fragment Of IgE Receptor II)

EGFR expression • PDGFRA mutation • MSH2 mutation • MLH1 mutation • STAT3 expression • FANCG mutation

3ms

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.

3 months ago

Journal • Next-generation sequencing

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

3ms

Clinical characteristics and genomic profiling of outpatients with endometrial cancer at a Chinese tertiary cancer center. (PubMed, Discov Oncol)

Outpatients department gathered a considerable proportion of recurrent patients with complex genomic features. Patients with worse prognosis could be well studied, and anti-PD1 therapy was a promising salvage therapy in the real world.

3 months ago

Journal • BRCA Biomarker • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • FANCA (FA Complementation Group A) • RAD50 (RAD50 Double Strand Break Repair Protein) • MUTYH (MutY homolog)

BRCA2 mutation • BRCA1 mutation • MSI-H/dMMR • MSH2 mutation • FANCA mutation • MLH1 mutation • RAD50 mutation

3ms

Lynch Syndrome-associated Genomic Variants. (PubMed, J Gastrointestin Liver Dis)

This study provides new insights into the molecular basis of Lynch syndrome-associated endometrial cancer, emphasizing the overlap in oncogenic pathways with colorectal cancer. The discovery of shared and unique genetic mutations highlights the importance of developing combined treatment strategies and suggests that targeting these specific mutations could improve therapy for patients with Lynch syndrome-associated cancers.

3 months ago

Journal

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

PIK3CA mutation • PTEN mutation • MSH2 mutation • MLH1 mutation

3ms

Durable response to pembrolizumab in hepatic metastasis from colonic carcinoma with Lynch syndrome: a case report. (PubMed, Front Immunol)

It raises critical questions regarding the optimal duration of immunotherapy following a complete or partial response and whether treatment should be discontinued upon the emergency of TRAEs. Continued research and forthcoming clinical trials with checkpoint inhibitors are expected to refine treatment protocols for LS-associated carcinoma.

3 months ago

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

MSH2 (MutS Homolog 2)

MSH2 mutation

Keytruda (pembrolizumab)

7ms

Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome. (PubMed, NPJ Precis Oncol)

Treatment involving immune checkpoint inhibitors significantly contributed to prolonged survival in both patients affected by lethal gliomas. The uniform hypermutation also allowed immune-directed treatment using nivolumab for the B-cell lymphoma, thereby limiting the intensive chemotherapy exposure in this young patient who remains at risk for subsequent malignancies.

7 months ago

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

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

MSH2 mutation • PMS2 mutation

Opdivo (nivolumab)

7ms

Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa. (PubMed, J Clin Pathol)

The spectrum of disease-causing MMR gene variants in our population necessitates NGS testing for LS screening. This study also highlights the role of somatic testing on readily available FFPE samples to generate data on the epidemiology of CRC in different settings.

7 months ago

Journal • Mismatch repair

POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • POLD1 (DNA Polymerase Delta 1)

MSI-H/dMMR • MSH2 mutation

8ms

Deciphering the Pancreatic Cancer Microbiome in Mainland China: Impact of Exiguobacterium/Bacillus ratio on Tumor Progression and Prognostic Significance. (PubMed, Pharmacol Res)

The existing body of research underscores the critical impact of intratumoral microbiomes on the progression of pancreatic ductal adenocarcinoma (PDAC), particularly in reshaping the tumor microenvironment and influencing gemcitabine resistance...The elevated expression of ABL2 and MSH2 has been correlated with poorer prognostic outcomes in PDAC patients. Together, these insights shed light on risk factors influencing PDAC progression and unveil potential therapeutic targets, alongside probiotic intervention strategies.

8 months ago

Journal

MSH2 (MutS Homolog 2) • ABL2 (ABL Proto-Oncogene 2, Non-Receptor Tyrosine Kinase)

MSH2 mutation

gemcitabine

8ms

Cancer Preventive Vaccine Nous-209 for Lynch Syndrome Patients (clinicaltrials.gov)

P1/2, N=60, Recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2025 --> Jul 2025 | Trial primary completion date: Mar 2025 --> Jul 2025

8 months ago

Trial completion 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)

BRAF mutation • MSH2 mutation • MLH1 mutation • PMS2 mutation

NOUS-209

8ms

Plasma ctDNA enables early detection of temozolomide resistance mutations in glioma. (PubMed, Neurooncol Adv)

Furthermore, plasma ctDNA detection of new MMR gene mutations not present in the initial tissue biopsy may provide an early indication of the development of chemotherapy resistance. Additional clinical validation in larger cohorts is needed.

8 months ago

Journal • Circulating tumor DNA

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

MSH2 mutation

TruSight Oncology 500 Assay

temozolomide

9ms

Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis. (PubMed, EBioMedicine)

The results validate our previous findings from mice and highlight early mitotic abnormalities as an important contributor and precancerous marker of colorectal tumourigenesis in LS.

9 months ago

Journal • Microsatellite instability

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

MSH6 mutation • MSH2 mutation • MLH1 mutation

9ms

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

9 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

9ms

A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals (clinicaltrials.gov)

P=N/A, N=200, Recruiting, Nuvance Health | N=100 --> 200

9 months ago

Enrollment change

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)

BRCA1 mutation • ATM mutation • PALB2 mutation • CDKN2A mutation • MSH2 mutation • PMS2 mutation

9ms

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. (PubMed, Lancet Oncol)

The very high cancer burden and unique genomic landscape of CMMRD highlight the benefit of comprehensive assays in timely diagnosis and precision approaches toward surveillance and immunotherapy. These data will guide the clinical management of children and patients who survive into adulthood with CMMRD.

9 months ago

Journal • Mismatch repair • IO biomarker

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

MSH2 mutation • MLH1 mutation • PMS2 mutation

9ms

Cancer Preventive Vaccine Nous-209 for Lynch Syndrome Patients (clinicaltrials.gov)

P1/2, N=60, Recruiting, National Cancer Institute (NCI) | N=45 --> 60 | Trial completion date: Jul 2025 --> Mar 2025 | Trial primary completion date: Jul 2025 --> Mar 2025

9 months ago

Enrollment change • Trial completion 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)

BRAF mutation • MSH2 mutation • MLH1 mutation • PMS2 mutation

NOUS-209

9ms

A Phase IIa Randomized, Double-Blinded Clinical Trial of Naproxen or Aspirin for Cancer Immune Interception in Lynch Syndrome (clinicaltrials.gov)

P2, N=40, Recruiting, M.D. Anderson Cancer Center | Phase classification: P2a --> P2

9 months ago

Phase classification

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

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

aspirin

9ms

Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival. (PubMed, Eur Urol Oncol)

This study provides further support that rare pLOF variants in specific genes are likely to increase aggressive PrCa risk and may help define the panel of informative genes for screening and treatment considerations.

9 months ago

Journal • BRCA Biomarker

BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))

ATM mutation • MSH2 mutation • NBN mutation

10ms

Evaluation of a Multimodal Strategy for Early Diagnosis of Men at High Genetic Risk of Prostate Cancer (HRPCa-II) (clinicaltrials.gov)

P=N/A, N=880, Not yet recruiting, Assistance Publique - Hôpitaux de Paris | Trial completion date: Nov 2027 --> Jul 2029 | Trial primary completion date: Nov 2027 --> Jul 2029

10 months ago

Trial completion date • Trial primary completion date

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • HOXB13 (Homeobox B13)

BRCA1 mutation • PTEN mutation • PALB2 mutation • BRIP1 mutation • MSH2 mutation • RAD51C mutation • RAD51D mutation • RAD50 mutation • BARD1 mutation • BLM mutation • MRE11A mutation • MLH3 mutation • NBN mutation

10ms

GC 2nd Line Durvalumab(MEDI4736)/Tremelimumab Plus Paclitaxel Study (clinicaltrials.gov)

P1/2, N=58, Completed, Asan Medical Center | Active, not recruiting --> Completed

10 months ago

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)

10ms

Determining MSI status of prostate and cholangiocellular carcinoma by genome wide NGS (DKK 2024)

MSI estimation using NGS is suitable as a quick screening tool. Since thresholds for MSI-H might differ enormously between entities, additional IHC testing is recommended at least in samples where VUS or pathogenic mutations are found in one of the mismatch repair genes. Downloaded from http://karger.com/ort/article-pdf/47/Suppl.

10 months ago

MSi-H Biomarker • Next-generation sequencing

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

MSI-H/dMMR • MSH2 mutation • MLH1 mutation

Ventana MMR RxDx Panel • TruSight Oncology 500 Assay • VENTANA anti-MSH2 (G219-1129) Mouse Monoclonal Primary Antibody • VENTANA anti-MSH6 (SP93) Rabbit Monoclonal Primary Antibody

10ms

Endometrial Cancers with Low Level Microsatellite Instability: Classification Pitfalls and Practical Recommendations for Assigning Mismatch Repair Status by Next Generation Sequencing with MSIsensor and Ancillary Tests (USCAP 2024)

MSIsensor scores as low as 3.5% may represent true MMRd in EC tested by NGS. Further testing for MMRd is advised for MSIsensor scores between 3% and 30%, particularly if there is low tumor content or associated high TMB. In this setting, MMR IHC may have superior sensitivity for detection of MMRd compared to DNA-based assays.

10 months ago

Microsatellite instability • Tumor mutational burden • IO biomarker • Next-generation sequencing • Mismatch repair

TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

TMB-H • POLE mutation • MSH6 mutation • MSH2 mutation • PMS2 mutation

Idylla™ MSI Test

10ms

Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes (clinicaltrials.gov)

P=N/A, N=77, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Feb 2024 --> Feb 2025 | Trial primary completion date: Feb 2024 --> Feb 2025

10 months ago

Trial completion date • Trial primary completion date

STK11 (Serine/threonine kinase 11) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • APC (APC Regulator Of WNT Signaling Pathway) • EPCAM (Epithelial cell adhesion molecule) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

MSH2 mutation • MLH1 mutation • PMS2 mutation

11ms

Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report. (PubMed, Diagn Pathol)

In the case of a patient with double primary EC and CRC, a careful evaluation of the IHC and the genetic data was presented. The patient carried rare compound heterozygous variants, a germline missense mutation, and a somatic frameshift mutation of MSH6, combined with a novel somatic null variant of MSH2. Our study broadened the variant spectrum of double primary cancer and provided insight into the molecular basis for abnormal MSH2 protein loss and double primary carcinoma.

11 months ago

Journal

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

MSI-H/dMMR • MSH6 mutation • MSH2 mutation

11ms

Benign Adenomyoepithelioma: An Unrecognised Precursor of Ductal Carcinoma in Situ in Patient With Lynch Syndrome. (PubMed, Int J Surg Pathol)

Concordant loss of MSH2 in both lesions in the context of a MSH2 pathogenic variant in this patient with Lynch syndrome illustrates that the benign adenomyoepithelioma behaved as a likely precursor of DCIS. Our report provides a novel perspective that in some patients with Lynch syndrome adenomyoepithelioma may represent a pre-malignant precursor lesion of DCIS.

11 months ago

Journal

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

MSH2 mutation

11ms

High-throughput sequencing and in-silico analysis confirm pathogenicity of novel MSH3 variants in African American colorectal cancer. (PubMed, Neoplasia)

Overall, our data suggest that these variants among AA CRC patients affect the function of MSH3 making them pathogenic and likely contributing to the development or advancement of CRC among AA. Further clarifying functional studies will be necessary to fully understand the impact of these variants on MSH3 function and CRC development in AA patients.

11 months ago

Journal

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • MSH3 (MutS Homolog 3)

MSH2 mutation

12ms

Cycling in Preventing Colorectal Cancer in Participants With Lynch Syndrome (clinicaltrials.gov)

P=N/A, N=21, Completed, M.D. Anderson Cancer Center | Active, not recruiting --> Completed | Trial completion date: Dec 2024 --> Jan 2024 | Trial primary completion date: Dec 2024 --> Jan 2024

12 months ago

Trial completion • Trial completion date • Trial primary completion date

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

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

12ms

Correlations between MSH2 and MSH6 Concentrations in Different Biological Fluids and Clinicopathological Features in Colorectal Adenocarcinoma Patients and Their Contribution to Fast and Early Diagnosis of Colorectal Adenocarcinoma. (PubMed, Biomedicines)

MSH6, which stands for mutS homolog 6, is not only useful in immunohistochemistry but in pathology practice as well. In this paper, the relationships between MSH6 levels in four biological fluids-whole blood, saliva, urine, and tissues-and tumor locations among the colorectal area, gross features, presence of a mucinous compound, molecular subtype, stroma features, and vascular invasions are presented.

12 months ago

Journal

MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2)

MSH2 mutation

12ms

Susceptibility Genes Associated with Multiple Primary Cancers. (PubMed, Cancers (Basel))

This review aims to discuss these susceptibility genes and provide an explanation of their functions based on the signaling pathway background. Additionally, the association network between genetic signatures and different tumor pairs will be summarized.

12 months ago

Review • Journal • BRCA Biomarker

EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2)

TP53 mutation • BRCA2 mutation • BRCA1 mutation • EGFR mutation • PTEN mutation • CHEK2 mutation • MSH2 mutation • MLH1 mutation

12ms

Cycling in Preventing Colorectal Cancer in Participants With Lynch Syndrome (clinicaltrials.gov)

P=N/A, N=21, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Dec 2023 --> Dec 2024 | Trial primary completion date: Dec 2023 --> Dec 2024

12 months ago

Trial completion date • Trial primary completion date

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

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

1year

Construction of a risk stratification model integrating ctDNA to predict response and survival in neoadjuvant-treated breast cancer. (PubMed, BMC Med)

In this study, we established a chemotherapy predictive model with a non-invasive tool that is built based on genomic features, ctDNA status, as well as clinical characteristics for predicting pCR to recognize the responders and non-responders to NAC, and also predicting prognosis for DFS in breast cancer. Adding pretreatment ctDNA levels to a model containing gene profile mutation and clinical characteristics significantly improves stratification over the clinical variables alone.

1 year ago

Journal • Circulating tumor DNA

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSH2 (MutS Homolog 2) • IL7R (Interleukin 7 Receptor) • SETBP1 (SET Binding Protein 1) • NFKB1 (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) • NOTCH4 (Notch 4) • FOXP1 (Forkhead Box P1)

TP53 mutation • EGFR mutation • PIK3CA mutation • MSH2 mutation

1year

Defining molecular features associated with microsatellite instability and response to immune checkpoint blockade in urothelial carcinoma. (ASCO-GU 2024)

Targeted sequencing reveals distinct genomic features of MSI-H UC. The findings from this relatively large clinical cohort of MSI-H UC patients affirm previous associations between MSI status, TMB, and response to ICB in metastatic UC.

1 year ago

Checkpoint inhibition • Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • Checkpoint block

TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MSH2 (MutS Homolog 2)

MSI-H/dMMR • MSH2 mutation