FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1569243453> ?p ?o ?g. }

• W1569243453 endingPage "243" @default.
• W1569243453 startingPage "201" @default.
• W1569243453 abstract "The pathogenic role for heritable mutations in the DNA sequence of tumor suppressor and DNA repair genes has been well established in familial cancer syndromes. These germ line mutations confer a high risk of developing particular types of cancer, according to the gene affected, at a young age of onset when compared to sporadically arising cancers of a similar type. The widespread role for epigenetic dysregulation in the development and progression of sporadic cancers is also well recognized. However, it has only become apparent in recent years that epigenetic aberrations can also occur constitutionally to confer a similar cancer phenotype as a genetic mutation within the same gene. These epigenetic errors are termed “constitutional epimutations” and are characterized by promoter methylation and transcriptional silencing of a single allele of the gene in normal somatic tissues in the absence of a sequence mutation within the affected locus. This is best exemplified in Lynch syndrome, which is an autosomal dominant cancer susceptibility syndrome characterized by the early development of colorectal, uterine, and additional cancers exhibiting microsatellite instability due to impaired mismatch repair. Lynch syndrome is usually caused by heterozygous loss-of-function germ line mutations of the mismatch repair genes, namely MLH1, MSH2, MSH6, and PMS2. Tumors develop following an acquired somatic loss of the remaining functional allele. However, a subset of Lynch syndrome cases without genetic mutations instead has a constitutional epimutation of MLH1 or MSH2. These epimutations are associated with distinct patterns of inheritance depending on the nature of the mechanisms underlying them." @default.
• W1569243453 created "2016-06-24" @default.
• W1569243453 creator A5083863816 @default.
• W1569243453 date "2010-01-01" @default.
• W1569243453 modified "2023-10-13" @default.
• W1569243453 title "Inheritance of Epigenetic Aberrations (Constitutional Epimutations) in Cancer Susceptibility" @default.
• W1569243453 cites W1534122645 @default.
• W1569243453 cites W1556385076 @default.
• W1569243453 cites W1651458958 @default.
• W1569243453 cites W1971400148 @default.
• W1569243453 cites W1972254989 @default.
• W1569243453 cites W1974439810 @default.
• W1569243453 cites W1975231696 @default.
• W1569243453 cites W1977992852 @default.
• W1569243453 cites W1989957148 @default.
• W1569243453 cites W1991949008 @default.
• W1569243453 cites W1992822589 @default.
• W1569243453 cites W2002401075 @default.
• W1569243453 cites W2004670643 @default.
• W1569243453 cites W2006557744 @default.
• W1569243453 cites W2013521944 @default.
• W1569243453 cites W2016877107 @default.
• W1569243453 cites W2023598285 @default.
• W1569243453 cites W2025327704 @default.
• W1569243453 cites W2025785990 @default.
• W1569243453 cites W2029959077 @default.
• W1569243453 cites W2030352564 @default.
• W1569243453 cites W2030423376 @default.
• W1569243453 cites W2031101219 @default.
• W1569243453 cites W2039408641 @default.
• W1569243453 cites W2042509425 @default.
• W1569243453 cites W2043622843 @default.
• W1569243453 cites W2048447535 @default.
• W1569243453 cites W2052849994 @default.
• W1569243453 cites W2056182559 @default.
• W1569243453 cites W2058176738 @default.
• W1569243453 cites W2060559393 @default.
• W1569243453 cites W2063091345 @default.
• W1569243453 cites W2066002356 @default.
• W1569243453 cites W2068187102 @default.
• W1569243453 cites W2069713835 @default.
• W1569243453 cites W2075704285 @default.
• W1569243453 cites W2076732839 @default.
• W1569243453 cites W2077060586 @default.
• W1569243453 cites W2080606019 @default.
• W1569243453 cites W2086393257 @default.
• W1569243453 cites W2089092137 @default.
• W1569243453 cites W2090437258 @default.
• W1569243453 cites W2094718112 @default.
• W1569243453 cites W2095558763 @default.
• W1569243453 cites W2096857955 @default.
• W1569243453 cites W2097026108 @default.
• W1569243453 cites W2107972234 @default.
• W1569243453 cites W2116423396 @default.
• W1569243453 cites W2121752589 @default.
• W1569243453 cites W2123278251 @default.
• W1569243453 cites W2124896165 @default.
• W1569243453 cites W2126590649 @default.
• W1569243453 cites W2127431151 @default.
• W1569243453 cites W2128793721 @default.
• W1569243453 cites W2133908107 @default.
• W1569243453 cites W2141122938 @default.
• W1569243453 cites W2143096842 @default.
• W1569243453 cites W2150587328 @default.
• W1569243453 cites W2152344392 @default.
• W1569243453 cites W2152700795 @default.
• W1569243453 cites W2156128393 @default.
• W1569243453 cites W2156606896 @default.
• W1569243453 cites W2158920055 @default.
• W1569243453 cites W2159615538 @default.
• W1569243453 cites W2163685885 @default.
• W1569243453 cites W2169533383 @default.
• W1569243453 cites W2172137263 @default.
• W1569243453 cites W71778210 @default.
• W1569243453 doi "https://doi.org/10.1016/b978-0-12-380866-0.60008-3" @default.
• W1569243453 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20920750" @default.
• W1569243453 hasPublicationYear "2010" @default.
• W1569243453 type Work @default.
• W1569243453 sameAs 1569243453 @default.
• W1569243453 citedByCount "52" @default.
• W1569243453 countsByYear W15692434532012 @default.
• W1569243453 countsByYear W15692434532013 @default.
• W1569243453 countsByYear W15692434532015 @default.
• W1569243453 countsByYear W15692434532016 @default.
• W1569243453 countsByYear W15692434532017 @default.
• W1569243453 countsByYear W15692434532018 @default.
• W1569243453 countsByYear W15692434532019 @default.
• W1569243453 countsByYear W15692434532020 @default.
• W1569243453 countsByYear W15692434532021 @default.
• W1569243453 countsByYear W15692434532022 @default.
• W1569243453 countsByYear W15692434532023 @default.
• W1569243453 crossrefType "book-chapter" @default.
• W1569243453 hasAuthorship W1569243453A5083863816 @default.
• W1569243453 hasConcept C104317684 @default.
• W1569243453 hasConcept C111425858 @default.
• W1569243453 hasConcept C121608353 @default.
• W1569243453 hasConcept C13514818 @default.
• W1569243453 hasConcept C180754005 @default.

• next