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6d
Coexisting germline variants of MLH1 and MSH6 in a patient with Lynch syndrome who had uterine and ovarian cancer. (PubMed, Int Cancer Conf J)
The use of an immune checkpoint inhibitor pembrolizumab resulted in durable partial response of metastatic lung tumors. This case reminds clinicians of the rare possibility of multiple germline variants in MMR genes in individuals with Lynch syndrome.
Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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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) • PMS2 (PMS1 protein homolog 2)
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Keytruda (pembrolizumab)
7d
Expression patterns of mismatch repair proteins in cervical cancer uncover independent prognostic value of MSH-2. (PubMed, Int J Gynecol Cancer)
MMR-D is rare in cervical cancer, yet low MSH-2 expression is an independent predictor of poor survival.
Journal • Mismatch repair • Tumor mutational burden • IO biomarker
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TMB (Tumor Mutational Burden) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2) • RAD50 (RAD50 Double Strand Break Repair Protein)
10d
Robotic Resection of Colonic Medullary Carcinoma: A Case Report. (PubMed, Cureus)
No adjuvant therapy was recommended after a multidisciplinary review given the tumor's MMR deficiency and absence of regional lymph node metastasis. This report highlights the diagnostic challenges of MC and the potential benefits of a robotic approach for MC resections in an elderly patient.
Journal
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MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
16d
Lower degree of microsatellite instability in colorectal carcinomas from MSH6-associated Lynch syndrome patients. (PubMed, Mod Pathol)
Future studies should carefully evaluate this possibility. If confirmed, these results would reinforce the notion of classifying LS as distinct syndromes associated with specific MMR genes.
Journal • Microsatellite instability • IO biomarker
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MSI (Microsatellite instability) • HLA-A (Major Histocompatibility Complex, Class I, A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • B2M (Beta-2-microglobulin)
19d
Prevalence of Mismatch Repair Deficiency in Primary Prostate Cancer in a Large Prospective Cohort. (PubMed, Clin Cancer Res)
In this nationwide prospective study, MMR deficiency was rare in primary, surgically treated prostate cancer. The low prevalence and the need for an internal positive control for this assay are feasibility concerns for unselected routine immunohistochemistry-based screening for MMR deficiency on limited tissue specimens, such as prostate biopsies.
Journal • Mismatch repair • 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)
19d
MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors. (PubMed, J Pathol Clin Res)
BRAF p.V600E mutation was found in 45% (9/20) of mismatch repair deficient, but only 1 of 11 proficient tumors. Colorectal carcinomas with diffuse SLFN11 positivity were often mismatch repair deficient tumors with their typical clinical, morphological, and molecular characteristics.
Journal
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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) • SLFN11 (Schlafen Family Member 11)
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BRAF V600E • MSI-H/dMMR • BRAF V600
20d
Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype. (PubMed, Eur J Hum Genet)
Phenotypic features should be taken into account for testing decision. Evaluating the cost-effectiveness of testing all CRC cases < 41 years, as well as how it aligns with the constraints of various healthcare systems, is warranted.
Journal
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TP53 (Tumor protein P53) • 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) • CDH1 (Cadherin 1) • POLD1 (DNA Polymerase Delta 1) • EPCAM (Epithelial cell adhesion molecule) • MSH3 (MutS Homolog 3) • MUTYH (MutY homolog) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
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MSI-H/dMMR
25d
Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway. (PubMed, Int J Mol Sci)
Furthermore, ECM components, such as collagen isoforms, Fibrillin-1, EMILIN-1, Prolargin, and Lumican, were found to be highly expressed in the MLH1/PMS2-deficient tumor area, suggesting a connection between DNA repair deficiencies, ECM remodeling, and tumor progression. Thus, the identification of the BRCA2 variant sheds light on the poorly understood interplay between DNA repair deficiencies and ECM remodeling in OC, providing new insights into their dual role in shaping tumor evolution and suggesting potential targets for novel therapeutic strategies.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • BCL6 (B-cell CLL/lymphoma 6) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • NOTCH2 (Notch 2) • KDM6A (Lysine Demethylase 6A) • CUX1 (cut like homeobox 1) • DRD (DNA Repair Deficiency) • FANCG (FA Complementation Group G) • LUM (Lumican)
26d
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing. (PubMed, ESMO Open)
Patients with MPC were more likely to harbour a PGV. Extended testing improved PGV detection rates, particularly for less well-known cancer predisposition genes.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • TET2 (Tet Methylcytosine Dioxygenase 2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • BARD1 (BRCA1 Associated RING Domain 1) • DDX41 (DEAD-Box Helicase 41) • FANCL (FA Complementation Group L) • CTNNA1 (Catenin Alpha 1) • RECQL4( RecQ Like Helicase 4) • SPINK1 (Serine peptidase inhibitor, kazal type 1) • CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) • TNFRSF13B (TNF Receptor Superfamily Member 13B)
26d
Primary Endometrial Gastric (Gastrointestinal)-type Mucinous Adenocarcinoma: A Detailed Clinicopathologic and Molecular Analysis of 27 Cases. (PubMed, Am J Surg Pathol)
Like the cervical counterpart, primary EmGA has a distinctive morphologic appearance, harbors frequent TP53 mutations, and can be associated with adverse outcomes despite low-grade morphology and/or low-stage at presentation. They may be represented in all 4 TCGA molecular groups.
Journal • BRCA Biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • CLDN18 (Claudin 18) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • CDX2 (Caudal Type Homeobox 2) • MUC6 (Mucin 6)
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TP53 mutation • MSI-H/dMMR • POLE mutation
28d
Are all mismatch repair deficient endometrial cancers created equal? A large, retrospective, tertiary center experience. (PubMed, Eur J Cancer)
MLH1-hypermethylated MMRd ECs display more aggressive clinicopathologic features compared to the other MMRd subgroups. However, although a suggestive trend toward poorer EFS was observed in the hypermethylated subset, particularly in the advanced setting, no significant differences in prognosis were detected among the MMRd subtypes.
Retrospective data • Journal • Mismatch repair
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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)
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MSI-H/dMMR
1m
A case of multiple advanced colon cancers with spontaneous regression of only one lesion after biopsy: a case report and literature review. (PubMed, Clin J Gastroenterol)
The ascending colon lesion showed weak positivity for MLH1, positivity for MSH2 and MSH6, and negativity for PMS2, indicating MMR deficiency, whereas the transverse colon lesion showed positivity for all of them, indicating MMR-proficient tumor. This is the first case report of multiple advanced colon cancers, where only one lesion exhibited spontaneous regression after biopsy, suggesting a potential link between MMR deficiency and the spontaneous regression of colorectal cancer.
Journal
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
1m
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation. (PubMed, Mol Genet Genomic Med)
Patients referred for oncogenetic testing with MPM are more likely to carry pathogenic variants in cancer predisposition genes than patients with a single primary cancer (p < 0.05), especially if the cancers are related to the same predisposition syndrome. If the cancers are unrelated, no statistical difference in comparison to the single-cancer population was observed. For these latter patients, we recommend using the specific criteria of each tumor to propose appropriate genetic testing.
Journal • BRCA Biomarker
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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) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
1m
Neoplasia detection via colonic surveillance among young individuals with MSH6 and PMS2-associated Lynch Syndrome. (PubMed, Am J Gastroenterol)
Among individuals with MSH6/PMS2-associated LS undergoing early colonoscopy, neoplasia was common, even in those under 30. Current recommendations suggesting delayed initiation of surveillance among such patients may lead to missed preventive opportunities.
Journal
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MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2)
1m
Obesity correlates to the microsatellite instability of endometrial cancer: A retrospective observational study. (PubMed, Semin Oncol)
This study demonstrates a significant association between obesity and MSI in EC, particularly affecting MLH1 and PMS2 expression. The findings suggest that obesity may contribute to EC development also through MMR deficiency.
Observational data • Retrospective data • Journal • Microsatellite instability
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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
The mutational landscape and its longitudinal dynamics in relapsed and refractory classic Hodgkin lymphoma. (PubMed, Ann Hematol)
This study delineates distinct mutational signatures between responders and rHL/prHL, whilst illustrating longitudinal dynamics in mutational profiles using paired samples. Further, several exploitable therapeutic vulnerabilities for rHL and prHL were identified.
Journal
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MET (MET proto-oncogene, receptor tyrosine kinase) • NF1 (Neurofibromin 1) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • PMS2 (PMS1 protein homolog 2) • ETV1 (ETS Variant Transcription Factor 1) • BARD1 (BRCA1 Associated RING Domain 1) • KAT6A (Lysine Acetyltransferase 6A) • EPHB1 (EPH Receptor B1)
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BARD1 mutation
2ms
A Case of Lynch Syndrome with MSH2 Likely Pathogenic Variant Who Developed Rectal Cancer Due to Methylation of MLH1 (PubMed, Gan To Kagaku Ryoho)
Subsequently, a likely pathogenic variant of MSH2(c.2260A>G)was identified. This case suggests that MLH1-methylated rectal cancer can develop in patients with Lynch syndrome and that multigene panel test using next-generation technology would be useful for searching hereditary cancer predisposition syndromes such as Lynch syndrome even in patients with sporadic dMMR colorectal cancer.
Journal • MSi-H Biomarker
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BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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BRAF V600E • MSI-H/dMMR • BRAF V600
2ms
Comparison of survival outcomes for patients with Lynch vs non-Lynch syndrome and microsatellite unstable colorectal cancer treated with immunotherapy. (PubMed, Cancer)
Patients with MSI-H CRC treated with ICIs exhibited similar outcomes regardless of germline or somatic MMR mutations. However, the presence of a BRAF V600E mutation was associated with a worse prognosis.
Clinical • Retrospective data • Journal • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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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 • MSI-H/dMMR • BRAF V600 • BRAF wild-type
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Keytruda (pembrolizumab)
2ms
Case report: Chemotherapy plus sintilimab for the treatment of gastroesophageal junction hepatoid adenocarcinoma with liver metastasis: a case study with literature review. (PubMed, Front Immunol)
The patient achieved a major pathological response (MPR) and remains in a progression-free stage. Sintilimab-based chemotherapy has proven efficacy in achieving a MPR and maintaining a progression-free state for a patient with GEJ HAC that has metastasized to the liver.
Review • Journal
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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) • JAK2 (Janus kinase 2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MUC1 (Mucin 1) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • AFP (Alpha-fetoprotein) • GPC3 (Glypican 3) • MME (Membrane Metalloendopeptidase) • KRT19 (Keratin 19) • DPYD (Dihydropyrimidine Dehydrogenase) • CA 19-9 (Cancer antigen 19-9)
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EGFR mutation • PIK3CA mutation • TP53 wild-type
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Tyvyt (sintilimab)
2ms
Constitutional Mismatch Repair Deficiency: Scoping Review of a Cancer-Predisposition Syndrome With Distinctive Cutaneous Findings. (PubMed, Pediatr Dermatol)
PMS2 and MSH6 pathogenic variants are linked to the broadest spectrum of cutaneous manifestations, including vascular tumors, various nevi, and pilomatricomas. Despite its rarity and diverse clinical manifestations, advancements in diagnostic criteria, genetic testing, and surveillance protocols have significantly improved survival rates and cancer management in CMMRD patients.
Review • Journal • Mismatch repair
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
2ms
Clinicopathological significance of deficient DNA mismatch repair and MLH1 promoter methylation in gastric adenosquamous carcinoma. (PubMed, Virchows Arch)
This study offers a comprehensive perspective on the clinicopathological features of GASC, emphasizing a subset of GASC associated with dMMR and MLH1 hypermethylation. Immunotherapy might be a promising strategy for GASC.
Journal • Mismatch repair • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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PD-L1 expression • MSI-H/dMMR
2ms
MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma. (PubMed, Acta Neuropathol)
In conclusion, MMR-IHC presents a cost-effective, relatively widely available, and fast screening method for germline MMRD in pedHGG with high sensitivity (100%) and specificity (96%). Given the relatively high prevalence of previously undetected MMRD cases among pedHGG patients, we strongly recommend incorporating MMR-IHC into routine diagnostics.
Journal • Mismatch repair
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
2ms
Clinical and Genetic Characteristics of Pediatric Colorectal Cancer. (PubMed, Pediatr Blood Cancer)
Pediatric CRC is confronted with delayed diagnosis and poor clinical prognosis, mainly due to nonspecific clinical presentation and the low index of suspicion among clinicians. Early detection and diagnosis is the fundamental guarantee to improve the prognosis of pediatric CRC patients, and pediatric surgeons enhance the understanding of pediatric CRC and standardize the surgery as much as possible.
Journal • MSi-H Biomarker
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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MSI-H/dMMR
2ms
Lynch syndrome screening in colorectal and endometrial cancers in Iceland. (PubMed, Acta Oncol)
Three LS cases were missed with MMR IHC (1 MSH6 and 2 PMS2 carriers), it is possible these patients had sporadic cancers unrelated to their LS carrier status. MSH6 and PMS2 deficiency strongly predicts LS in Iceland.
Journal
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MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2)
2ms
Patterns of cytotoxic T-cell densities in immunogenic endometrial cancers reveal a potential mechanism for differences in immunotherapy efficacy. (PubMed, BMJ Oncol)
These data indicate that CD8+T cell numbers and distribution is not equal between MLH1-methylated and confirmed LS ECs. This is relevant when interpreting current trial data looking to the application of checkpoint inhibition treatments in MMRd cancers.
Journal • Tumor mutational burden • IO biomarker
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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TP53 mutation • MSI-H/dMMR • TMB-L
2ms
Rare Case of Gut-associated Lymphoid Tissue Carcinoma in the Sigmoid Colon of a Very Elderly Patient: A Case Report. (PubMed, J Anus Rectum Colon)
B cells (CD20- and CD79a-positive) were generally distributed in and around the lymph follicles, while T cells (CD3-positive) were primarily located between the lymph follicles. This case highlights the rare histopathology of GALT carcinoma in colorectal cancer and underscores the importance of considering such diagnoses in elderly patients with colorectal tumors.
Journal
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CD20 (Membrane Spanning 4-Domains A1) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • CD79A (CD79a Molecule)
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CD20 positive
2ms
Frequency and Molecular Characteristics of Mismatch Repair-deficient Status among Multiple Synchronous Colorectal Cancers. (PubMed, J Anus Rectum Colon)
Our data will be useful for genetic counseling in patients with synchronous CRCs suspected of having LS. Screening for LS using IHC for MMR proteins in individuals with multiple synchronous CRCs is an effective approach.
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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MSI-H/dMMR
2ms
Trends in the incidence and mutational landscape of advanced uterine cancer. (PubMed, Int J Gynecol Cancer)
Advanced-stage uterine cancer rates are rising in the United States, particularly affecting Black and Hispanic women. Molecular differences exist by age, race, stage, and histology.
Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • PMS2 (PMS1 protein homolog 2)
|
TP53 mutation
2ms
Application of PMS2 and MSH6 double-antibody detection in screening of mismatch repair deficient tumors (PubMed, Zhonghua Bing Li Xue Za Zhi)
The cases with special phenotype only account for extremely low proportion. Therefore, 4-MMR may be replaced with 2-MMR in dMMR screening.
Retrospective data • Journal • Mismatch repair • MSi-H 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
2ms
Lynch Syndrome-Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches. (PubMed, Medicina (Kaunas))
For carriers of the high-risk variants (MLH1, MSH2 and EPCAM) who have already developed colon cancer, it is strongly recommended a subtotal or total colectomy is performed, while partial colectomy followed by endoscopic surveillance is an appropriate management approach to treat colon cancer in carriers of the low-risk variants (MSH6 and PMS2). On the other hand, extended surgery for index rectal cancer (such as total proctocolectomy) is less effective than extended surgery for index colon cancer from the point of view of metachronous CRC risk reduction, and is associated with a decreased quality of life.
Review • Journal • Mismatch repair
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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)
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MSI-H/dMMR
2ms
Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences. (PubMed, Hered Cancer Clin Pract)
Interventions focused on downstream events are external factors that influence which tumour clones survive Darwinian selection. In Lynch Syndrome, surveillance colonoscopy to remove adenomas may select for carcinogenetic pathways that bypass the adenoma stage.
Review • Journal
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MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
2ms
Germline predisposition in multiple myeloma. (PubMed, iScience)
Our results suggest that the disruption of DNA damage repair pathways may play a role in MM susceptibility. These results will inform improved surveillance in high-risk groups and potential therapeutic strategies.
Journal • 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) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • EP300 (E1A binding protein p300) • FANCM (FA Complementation Group M) • POT1 (Protection of telomeres 1) • PRF1 (Perforin 1)
2ms
Primary medullary adenocarcinoma of the colon: Literature review and case series. (PubMed, Surg Pract Sci)
Our cohort of medullary cancer patients were similar to that in the literature, with regards to demographics, staging and tumour characteristics. A longer follow-up time is required for our cohort to analyze long term survival outcomes.
Journal
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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
3ms
Prevalence of Microsatellite Instability in Gastric and Gastroesophageal Junction Cancer patients from a Latin American Country. (PubMed, Gac Med Mex)
Prior studies report 22% MSI phenotype prevalence in gastric tumors, mostly in developed countries, excluding Hispanic/Latino populations. Identifying the prevalence of MSI in our population as 12.26% could pave the way for approving immune blockade drugs as a treatment option for these patients in Latin American countries. Our data could be utilized to conduct cost-utility studies in support of this.
Journal • Microsatellite instability • IO biomarker
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2)
3ms
Clinicopathological and molecular features of lung cancers associated with cystic airspaces: an analysis of 34 cases. (PubMed, J Thorac Dis)
By comparing the gene mutation rates between the two cohorts, we identified that the mutation rates of MET, GNAS, PMS2, and PTCH1 genes were significantly higher in cystic LUAD compared to cystic LUAD. Our retrospective study has provided useful information about the clinical and molecular characteristics of LCCA, enhancing our understanding of its features for medical research and practice.
Journal
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PTCH1 (Patched 1) • PMS2 (PMS1 protein homolog 2) • GNAS (GNAS Complex Locus)
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TP53 mutation • KRAS mutation • EGFR mutation • MET mutation • PMS2 mutation
3ms
Mismatch repair (MMR) and microsatellite instability (MSI) phenotypes across solid tumors: A comprehensive cBioPortal study on prevalence and prognostic impact. (PubMed, Eur J Cancer)
MMR-m GECs showed improved overall survival compared to MMR-wt (p = 0.009), a relationship not observed in other tumor types. This study demonstrates that the MMR spectrum is extremely hetoerogeneous in solid tumors, highliting the need for comprehensive and tumor-specific testing strategies.
Journal • Mismatch repair • Microsatellite instability
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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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MSH6 mutation • MSH2 mutation • PMS2 mutation
3ms
Frequency and Impact of Constitutional Mismatch Repair Deficiency in Patients With High-Grade Glioma, a Retrospective Analysis of 7 Years in Pakistan: an IRRDC Study. (PubMed, JCO Glob Oncol)
We found a high frequency of CMMRD among patients with pHGG, particularly with positive consanguinity. Our study highlights the significance of genetic testing and surveillance. It is essential to develop low and middle income country-tailored protocols due to limited access and financial constraints associated with using immune checkpoint inhibitors.
Retrospective data • Journal • Mismatch repair • IO biomarker
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
3ms
Association between Deficient MSH2/MSH6 vs MLH1/PMS2 Status and Survival Rates in Localized Colorectal Cancer: A Nationwide Cohort Study. (PubMed, Ann Surg)
In patients with localized deficient mismatch repair colorectal cancer who underwent surgery, a significant association was found between loss of MSH2/MSH6 versus loss of MLH1/PMS2 expression and overall survival. Thus, these patients may be a target for a differentiated follow-up strategy.
Journal
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
|
MSI-H/dMMR
3ms
Occult collision tumor of the gastroesophageal junction comprising adenocarcinomas with distinct molecular profiles. (PubMed, Cancer Genet)
This case illustrates one way in which NGS can reveal diagnoses such as collision tumor that are wholly unexpected based on clinical and histological grounds. Such diagnoses can have important implications for patient care, particularly in cases where there is discordance for targetable molecular alterations.
Journal
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ALK (Anaplastic lymphoma kinase) • EML4 (EMAP Like 4) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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MSI-H/dMMR • ALK fusion
3ms
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.
Journal
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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)
3ms
Lynch Syndrome: Similarities and Differences of Recommendations in Published Guidelines. (PubMed, J Gastroenterol Hepatol)
There are significant disparities and disagreements in the guidelines and recommendations for patients with LS, causing confusion and difficulties for clinicians. Harmonization and cooperation are needed between the societies creating LS guidelines.
Review • Journal
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
|
aspirin
3ms
Best Practice Recommendations for Endometrial Intraepithelial Neoplasia/Atypical Endometrial Hyperplasia in the Military Health System. (PubMed, Mil Med)
Determining the optimal treatment for patients with EIN-AEH is nuanced and, within the military health care system, is complicated by varied access to expert management by a GO subspecialist. Military beneficiaries with this diagnosis present a unique challenge and warrant a standardized approach to maximize clinical outcomes.
Journal
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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)
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TP53 expression
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