FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4229078399> ?p ?o ?g. }

• W4229078399 endingPage "404" @default.
• W4229078399 startingPage "383" @default.
• W4229078399 abstract "Abstract Genome sequencing can be used to detect DNA repair failures in tumors and learn about underlying mechanisms. Here, we synthesize findings from genomic studies that examined deficiencies of the DNA mismatch repair (MMR) pathway. The impairment of MMR results in genome-wide hypermutation and in the ‘microsatellite instability’ (MSI) phenotype—occurrence of indel mutations at short tandem repeat (microsatellite) loci. The MSI status of tumors was traditionally assessed by molecular testing of a selected set of MS loci or by measuring MMR protein expression levels. Today, genomic data can provide a more complete picture of the consequences on genomic instability. Multiple computational studies examined somatic mutation distributions that result from failed DNA repair pathways in tumors. These include analyzing the commonly studied trinucleotide mutational spectra of single-nucleotide variants (SNVs), as well as of other features such as indels, structural variants, mutation clusters and regional mutation rate redistribution. The identified mutation patterns can be used to rigorously measure prevalence of MMR failures across cancer types, and potentially to subcategorize the MMR deficiencies. Diverse data sources, genomic and pre-genomic, from human and from experimental models, suggest there are different ways in which MMR can fail, and/or that the cell-type or genetic background may result in different types of MMR mutational patterns. The spectrum of MMR failures may direct cancer evolution, generating particular sets of driver mutations. Moreover, MMR affects outcomes of therapy by DNA damaging drugs, antimetabolites, nonsense-mediated mRNA decay (NMD) inhibitors, and immunotherapy by promoting either resistance or sensitivity, depending on the type of therapy." @default.
• W4229078399 created "2022-05-08" @default.
• W4229078399 creator A5023807865 @default.
• W4229078399 creator A5025364437 @default.
• W4229078399 creator A5026305164 @default.
• W4229078399 date "2022-03-01" @default.
• W4229078399 modified "2023-10-06" @default.
• W4229078399 title "Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy" @default.
• W4229078399 cites W1044944770 @default.
• W4229078399 cites W1193075794 @default.
• W4229078399 cites W1636514590 @default.
• W4229078399 cites W1751787421 @default.
• W4229078399 cites W1837578327 @default.
• W4229078399 cites W1867615175 @default.
• W4229078399 cites W1879219667 @default.
• W4229078399 cites W1904895329 @default.
• W4229078399 cites W1907545229 @default.
• W4229078399 cites W1940241680 @default.
• W4229078399 cites W1953627784 @default.
• W4229078399 cites W1966365850 @default.
• W4229078399 cites W1969853607 @default.
• W4229078399 cites W1971344938 @default.
• W4229078399 cites W1973211150 @default.
• W4229078399 cites W1973244269 @default.
• W4229078399 cites W1973717764 @default.
• W4229078399 cites W1980383179 @default.
• W4229078399 cites W1981489996 @default.
• W4229078399 cites W1984328540 @default.
• W4229078399 cites W1986500842 @default.
• W4229078399 cites W1989348835 @default.
• W4229078399 cites W1989456683 @default.
• W4229078399 cites W1991106907 @default.
• W4229078399 cites W1997038017 @default.
• W4229078399 cites W2006211525 @default.
• W4229078399 cites W2007276591 @default.
• W4229078399 cites W2008129321 @default.
• W4229078399 cites W2009720434 @default.
• W4229078399 cites W2012254521 @default.
• W4229078399 cites W2014994642 @default.
• W4229078399 cites W2022414823 @default.
• W4229078399 cites W2026450647 @default.
• W4229078399 cites W2028971520 @default.
• W4229078399 cites W2029904263 @default.
• W4229078399 cites W2031101219 @default.
• W4229078399 cites W2031612469 @default.
• W4229078399 cites W2032348811 @default.
• W4229078399 cites W2032409312 @default.
• W4229078399 cites W2033013069 @default.
• W4229078399 cites W2036175646 @default.
• W4229078399 cites W2036649093 @default.
• W4229078399 cites W2037898576 @default.
• W4229078399 cites W2042793731 @default.
• W4229078399 cites W2044271955 @default.
• W4229078399 cites W2045044035 @default.
• W4229078399 cites W2054392352 @default.
• W4229078399 cites W2059885034 @default.
• W4229078399 cites W2064855999 @default.
• W4229078399 cites W2065635506 @default.
• W4229078399 cites W2066149996 @default.
• W4229078399 cites W2067366953 @default.
• W4229078399 cites W2069054764 @default.
• W4229078399 cites W2070569107 @default.
• W4229078399 cites W2075637141 @default.
• W4229078399 cites W2075661710 @default.
• W4229078399 cites W2077059059 @default.
• W4229078399 cites W2077640472 @default.
• W4229078399 cites W2079314031 @default.
• W4229078399 cites W2079345935 @default.
• W4229078399 cites W2085315842 @default.
• W4229078399 cites W2086239585 @default.
• W4229078399 cites W2087751238 @default.
• W4229078399 cites W2093297340 @default.
• W4229078399 cites W2096371251 @default.
• W4229078399 cites W2096731080 @default.
• W4229078399 cites W2097478662 @default.
• W4229078399 cites W2097639613 @default.
• W4229078399 cites W2097995306 @default.
• W4229078399 cites W2099915768 @default.
• W4229078399 cites W2100091975 @default.
• W4229078399 cites W2101836667 @default.
• W4229078399 cites W2101851224 @default.
• W4229078399 cites W2104161593 @default.
• W4229078399 cites W2104347254 @default.
• W4229078399 cites W2104885590 @default.
• W4229078399 cites W2106018842 @default.
• W4229078399 cites W2106220473 @default.
• W4229078399 cites W2107562836 @default.
• W4229078399 cites W2108371618 @default.
• W4229078399 cites W2109001339 @default.
• W4229078399 cites W2110863884 @default.
• W4229078399 cites W2110946244 @default.
• W4229078399 cites W2112331024 @default.
• W4229078399 cites W2113215973 @default.
• W4229078399 cites W2113729674 @default.
• W4229078399 cites W2115276344 @default.
• W4229078399 cites W2117564738 @default.
• W4229078399 cites W2118750229 @default.
• W4229078399 cites W2121356457 @default.

• next