Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023987592> ?p ?o ?g. }
- W2023987592 endingPage "89" @default.
- W2023987592 startingPage "83" @default.
- W2023987592 abstract "Abstract Noonan syndrome (NS), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and LEOPARD syndrome (now also referred to as Noonan syndrome with multiple lentigines or NSML) are clinically overlapping dominant disorders that are caused by mutations in RAS signaling pathway genes. The spectrum of cancer susceptibility in this group of disorders has not been studied in detail. We identified more than 1900 cases of NS, CS, CFCS, or NSML reported in the literature between 1937 and 2010; 88 cancers were reported. The most common cancers reported in 1051 NS subjects were neuroblastoma (n = 8), acute lymphoblastic leukemia (n = 8), low grade glioma (n = 6), and rhabdomyosarcoma (n = 6). These associations are biologically plausible, given that somatic RAS pathway mutations are known to occur in these specific cancers. In addition, 40 childhood cases of myeloproliferative disease were described in individuals with NS, several of whom experienced a benign course of this hematologic condition. We confirmed the previously described association between CS and cancer in 268 reported individuals: 19 had rhabdomyosarcoma, 4 had bladder cancer, and 5 had neuroblastoma. By age 20, the cumulative incidence of cancer was approximately 4% for NS and 15% for CS; both syndromes had a cancer incidence peak in childhood. The cancers described in CFCS and NSML overlapped with those reported in NS and CS. Future epidemiologic studies will be required to confirm the described cancer spectrum and to estimate precise cancer risks. Published 2011 Wiley‐Liss, Inc." @default.
- W2023987592 created "2016-06-24" @default.
- W2023987592 creator A5020869886 @default.
- W2023987592 creator A5042621368 @default.
- W2023987592 creator A5073788325 @default.
- W2023987592 creator A5075952597 @default.
- W2023987592 creator A5084089970 @default.
- W2023987592 date "2011-04-15" @default.
- W2023987592 modified "2023-10-11" @default.
- W2023987592 title "Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes" @default.
- W2023987592 cites W1512627452 @default.
- W2023987592 cites W1855520113 @default.
- W2023987592 cites W1914707730 @default.
- W2023987592 cites W1970299412 @default.
- W2023987592 cites W1971904189 @default.
- W2023987592 cites W1997508007 @default.
- W2023987592 cites W2002714006 @default.
- W2023987592 cites W2022248034 @default.
- W2023987592 cites W2034022379 @default.
- W2023987592 cites W2038244338 @default.
- W2023987592 cites W2041414201 @default.
- W2023987592 cites W2044082528 @default.
- W2023987592 cites W2061393391 @default.
- W2023987592 cites W2067955480 @default.
- W2023987592 cites W2088293068 @default.
- W2023987592 cites W2091931718 @default.
- W2023987592 cites W2104599144 @default.
- W2023987592 cites W2126595521 @default.
- W2023987592 cites W2129595021 @default.
- W2023987592 cites W2129901774 @default.
- W2023987592 cites W2135728728 @default.
- W2023987592 cites W2143454794 @default.
- W2023987592 cites W2144844081 @default.
- W2023987592 cites W2156491752 @default.
- W2023987592 cites W2168104423 @default.
- W2023987592 cites W2169438753 @default.
- W2023987592 doi "https://doi.org/10.1002/ajmg.c.30300" @default.
- W2023987592 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3086183" @default.
- W2023987592 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21500339" @default.
- W2023987592 hasPublicationYear "2011" @default.
- W2023987592 type Work @default.
- W2023987592 sameAs 2023987592 @default.
- W2023987592 citedByCount "174" @default.
- W2023987592 countsByYear W20239875922012 @default.
- W2023987592 countsByYear W20239875922013 @default.
- W2023987592 countsByYear W20239875922014 @default.
- W2023987592 countsByYear W20239875922015 @default.
- W2023987592 countsByYear W20239875922016 @default.
- W2023987592 countsByYear W20239875922017 @default.
- W2023987592 countsByYear W20239875922018 @default.
- W2023987592 countsByYear W20239875922019 @default.
- W2023987592 countsByYear W20239875922020 @default.
- W2023987592 countsByYear W20239875922021 @default.
- W2023987592 countsByYear W20239875922022 @default.
- W2023987592 countsByYear W20239875922023 @default.
- W2023987592 crossrefType "journal-article" @default.
- W2023987592 hasAuthorship W2023987592A5020869886 @default.
- W2023987592 hasAuthorship W2023987592A5042621368 @default.
- W2023987592 hasAuthorship W2023987592A5073788325 @default.
- W2023987592 hasAuthorship W2023987592A5075952597 @default.
- W2023987592 hasAuthorship W2023987592A5084089970 @default.
- W2023987592 hasBestOaLocation W20239875922 @default.
- W2023987592 hasConcept C104317684 @default.
- W2023987592 hasConcept C120665830 @default.
- W2023987592 hasConcept C121332964 @default.
- W2023987592 hasConcept C121608353 @default.
- W2023987592 hasConcept C126322002 @default.
- W2023987592 hasConcept C13514818 @default.
- W2023987592 hasConcept C142724271 @default.
- W2023987592 hasConcept C143998085 @default.
- W2023987592 hasConcept C2776149932 @default.
- W2023987592 hasConcept C2776715637 @default.
- W2023987592 hasConcept C2778256501 @default.
- W2023987592 hasConcept C2779944767 @default.
- W2023987592 hasConcept C2780844630 @default.
- W2023987592 hasConcept C2781187634 @default.
- W2023987592 hasConcept C2993561819 @default.
- W2023987592 hasConcept C501734568 @default.
- W2023987592 hasConcept C502942594 @default.
- W2023987592 hasConcept C526805850 @default.
- W2023987592 hasConcept C54355233 @default.
- W2023987592 hasConcept C61511704 @default.
- W2023987592 hasConcept C71924100 @default.
- W2023987592 hasConcept C81885089 @default.
- W2023987592 hasConcept C86803240 @default.
- W2023987592 hasConceptScore W2023987592C104317684 @default.
- W2023987592 hasConceptScore W2023987592C120665830 @default.
- W2023987592 hasConceptScore W2023987592C121332964 @default.
- W2023987592 hasConceptScore W2023987592C121608353 @default.
- W2023987592 hasConceptScore W2023987592C126322002 @default.
- W2023987592 hasConceptScore W2023987592C13514818 @default.
- W2023987592 hasConceptScore W2023987592C142724271 @default.
- W2023987592 hasConceptScore W2023987592C143998085 @default.
- W2023987592 hasConceptScore W2023987592C2776149932 @default.
- W2023987592 hasConceptScore W2023987592C2776715637 @default.
- W2023987592 hasConceptScore W2023987592C2778256501 @default.
- W2023987592 hasConceptScore W2023987592C2779944767 @default.
- W2023987592 hasConceptScore W2023987592C2780844630 @default.