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BIOMARKER:
MSH2 mutation
i
Other names:
MSH2, MutS Homolog 2, HMSH2, MutS (E. Coli) Homolog 2, MutS Homolog 2, Nonpolyposis Type 1, DNA Mismatch Repair Protein Msh2, MutS Protein Homolog 2, HNPCC1, HNPCC, LCFS2, COCA1, FCC1
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Entrez ID:
4436
Related biomarkers:
Expression
Mutation
CNA
Others
‹
MSH2 mutation + MSH6 mutation (2)
MSH2 489_494deTGGGTA (1)
MSH2 mutation + MSH6 mutation + BRCA1 mutation (1)
MSH2 mutation + MSH6 mutation (2)
MSH2 489_494deTGGGTA (1)
MSH2 mutation + MSH6 mutation + BRCA1 mutation (1)
›
Associations
(7)
News
Trials
Search handles
@PestanaRC
@oncologician
Search handles
@PestanaRC
@oncologician
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Latest
almost2years
Agree, in #BladderCancer #patients w/validated #germline #genetictesting pathogenic mutation rate can be as high 26% w/ enrichment for DNA damage repair genes MLH1, MSH2, ATM, BRCA2. @AminNassarMD et al. @GIMJournal #access #precisiontherapy https://t.co/Ey3nco3nAm (@EdEsplin)
almost 2 years ago
Clinical
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BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2)
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MSH2 mutation
2years
Lynch syndrome is caused by inherited mutations (pathogenic variants) in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2. It can also be caused by large deletions of the 3’ end of EPCAM which lead to inactivation of MSH2. #ColorectalCancerAwarenessMonth (@HHampel1)
2 years ago
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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MSH2 mutation • PMS2 mutation
over2years
Results from initial PSA screening round of patients with mutations in mismatch repair genes via IMPACT trial. Increased detection of prostate cancer among MSH2 and MSH2 mutation carriers. https://t.co/07uBCTtQYq (@wandering_gu)
over 2 years ago
Clinical • Mismatch repair
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MSH2 (MutS Homolog 2)
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MSH2 mutation
almost3years
Thank you! nice discussion - would like input in an interesting case. Pleomorphic sarcoma, TMB 13, mutation MSH6 G1105fs. Microsatelite stable by NGS and by PCR. IHC = intact MSH6 and MSH2, loss of expression MLH1 and PMS2 🤯 Responding to Pembrolizumab. thoughts? @MPishvaian (@PestanaRC)
almost 3 years ago
Next-generation sequencing
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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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MSH6 mutation • MSH2 mutation • PMS2 mutation
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Keytruda (pembrolizumab)
over3years
M/62y ,PS 0 Partial hepatectomy HPR: Intrahep. Cholangioca pT -8 x 7.5 cm ,all margins-ve , LN -ve ,LVE + ,PNI + NGS - MSH2 mutation(AF -12%) Adjuvant Rx ? @pashtoonkasi @GABOUALFA @agrothey @SirohiBhawna @indranilsays @GIcancerDoc @rcarvalhoonco @CathyEngMD (@oncologician)
over 3 years ago
Clinical
|
MSH2 (MutS Homolog 2)
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MSH2 mutation
4years
2/ So many VUS that may be pathological, with no data. Many with LS respond well to chemo & biologics because of germline mutations. Pretty sure my mom’s 💯 response to stage 3 NSC lung cancer was due to MSH2 mutation. Docs were surprised how well treatment worked. (@Ilovepigenetics)
4 years ago
MSH2 (MutS Homolog 2)
|
MSH2 mutation
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