Matches in SemOpenAlex for { <https://semopenalex.org/work/W3111147256> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W3111147256 abstract "Abstract Our understanding of genetic predispositions for malignancy is continually evolving. One family of germline mutations well described in the literature is that of the DNA mismatch repair mechanism (MMR). Lynch syndrome (LS) is due to a loss of function mutation of several MMR genes- MSH2, MLH1, MSH6, and PMS2. Germline MMR mutations lead to microsatellite instability and loss of genomic integrity resulting in an increased risk for various cancers (colorectal, genitourinary, etc). LS may be as common as 1 in 400 people and some MMR mutations have been associated with gliomas. There is a paucity of information regarding frequency of glioma subtypes as well as tumor genetic and molecular characteristics which have important clinical implications. We describe a case series of 6 individuals with germline MMR mutations and brain tumors. Those with MSH2 and PMS2 mutations (n=3) developed glioblastomas at a mean age at diagnosis of 48 years. These tumors expressed MGMT hyper-methylation and high tumor mutational burden. Only one had IDH-1 mutation. Those with MLH1 mutations (n=3), did not develop gliomas. This raises the question of differential glioma subtype development based on MMR gene. It also highlights the possibility of Lynch-associated gliomas having more favorable treatment response due to MGMT methylation and potential response to immunotherapy based on high tumor mutational burden. Though the sample size is small, there appears to be a preponderance of women compared to men (5:1 respectively). Larger studies are needed to verify CNS involvement in germline MMR mutations. In doing so, we hope to identify factors that may influence clinical management and lead to a better understanding of treatment response and disease prognosis." @default.
- W3111147256 created "2020-12-21" @default.
- W3111147256 creator A5000751109 @default.
- W3111147256 creator A5042738576 @default.
- W3111147256 date "2020-11-01" @default.
- W3111147256 modified "2023-10-16" @default.
- W3111147256 title "NCMP-17. MISMATCH REPAIR MUTATIONS AND THE CENTRAL NERVOUS SYSTEM: A CASE SERIES OF GERMLINE MUTATIONS AND CNS MALIGNANCY" @default.
- W3111147256 doi "https://doi.org/10.1093/neuonc/noaa215.528" @default.
- W3111147256 hasPublicationYear "2020" @default.
- W3111147256 type Work @default.
- W3111147256 sameAs 3111147256 @default.
- W3111147256 citedByCount "0" @default.
- W3111147256 crossrefType "journal-article" @default.
- W3111147256 hasAuthorship W3111147256A5000751109 @default.
- W3111147256 hasAuthorship W3111147256A5042738576 @default.
- W3111147256 hasBestOaLocation W31111472561 @default.
- W3111147256 hasConcept C104317684 @default.
- W3111147256 hasConcept C109825262 @default.
- W3111147256 hasConcept C111425858 @default.
- W3111147256 hasConcept C134935766 @default.
- W3111147256 hasConcept C13514818 @default.
- W3111147256 hasConcept C180754005 @default.
- W3111147256 hasConcept C2776559941 @default.
- W3111147256 hasConcept C2776674815 @default.
- W3111147256 hasConcept C2778227246 @default.
- W3111147256 hasConcept C2778677574 @default.
- W3111147256 hasConcept C2779115348 @default.
- W3111147256 hasConcept C2779767149 @default.
- W3111147256 hasConcept C501734568 @default.
- W3111147256 hasConcept C502942594 @default.
- W3111147256 hasConcept C54355233 @default.
- W3111147256 hasConcept C60748783 @default.
- W3111147256 hasConcept C61320498 @default.
- W3111147256 hasConcept C86803240 @default.
- W3111147256 hasConceptScore W3111147256C104317684 @default.
- W3111147256 hasConceptScore W3111147256C109825262 @default.
- W3111147256 hasConceptScore W3111147256C111425858 @default.
- W3111147256 hasConceptScore W3111147256C134935766 @default.
- W3111147256 hasConceptScore W3111147256C13514818 @default.
- W3111147256 hasConceptScore W3111147256C180754005 @default.
- W3111147256 hasConceptScore W3111147256C2776559941 @default.
- W3111147256 hasConceptScore W3111147256C2776674815 @default.
- W3111147256 hasConceptScore W3111147256C2778227246 @default.
- W3111147256 hasConceptScore W3111147256C2778677574 @default.
- W3111147256 hasConceptScore W3111147256C2779115348 @default.
- W3111147256 hasConceptScore W3111147256C2779767149 @default.
- W3111147256 hasConceptScore W3111147256C501734568 @default.
- W3111147256 hasConceptScore W3111147256C502942594 @default.
- W3111147256 hasConceptScore W3111147256C54355233 @default.
- W3111147256 hasConceptScore W3111147256C60748783 @default.
- W3111147256 hasConceptScore W3111147256C61320498 @default.
- W3111147256 hasConceptScore W3111147256C86803240 @default.
- W3111147256 hasLocation W31111472561 @default.
- W3111147256 hasLocation W31111472562 @default.
- W3111147256 hasLocation W31111472563 @default.
- W3111147256 hasOpenAccess W3111147256 @default.
- W3111147256 hasPrimaryLocation W31111472561 @default.
- W3111147256 hasRelatedWork W13322795 @default.
- W3111147256 hasRelatedWork W17174532 @default.
- W3111147256 hasRelatedWork W18509191 @default.
- W3111147256 hasRelatedWork W2140235 @default.
- W3111147256 hasRelatedWork W2144531 @default.
- W3111147256 hasRelatedWork W21487114 @default.
- W3111147256 hasRelatedWork W21609639 @default.
- W3111147256 hasRelatedWork W35120238 @default.
- W3111147256 hasRelatedWork W43225374 @default.
- W3111147256 hasRelatedWork W4730387 @default.
- W3111147256 isParatext "false" @default.
- W3111147256 isRetracted "false" @default.
- W3111147256 magId "3111147256" @default.
- W3111147256 workType "article" @default.