Matches in SemOpenAlex for { <https://semopenalex.org/work/W2766873376> ?p ?o ?g. }
- W2766873376 endingPage "122" @default.
- W2766873376 startingPage "110" @default.
- W2766873376 abstract "Data on somatic heterogeneity and germline-somatic interaction in multiple primary melanoma (MPM) patients are limited. We investigated the mutational status of BRAF, NRAS, and TERT promoter genes in 97 melanomas of 44 MPM patients and compared molecular and immunohistochemical findings. We further evaluated the association of somatic alterations with the germline MC1R genotype. Mutations in BRAF gene were identified in 41.2% (40/97) of melanomas, in NRAS in 2.1% (2/97), and in TERT promoter in 19.6% (19/97). Distribution of BRAF mutations did not differ across multiple melanomas (P = 0.85), whereas TERT promoter changes decreased from first to subsequent melanomas (P = 0.04). Intrapatient discrepancy of BRAF mutations among multiple tumors was detected in 14 of 44 MPM patients (32%) and of BRAF/NRAS/TERT promoter genes in 20 of 44 (45%). We observed a high rate of agreement between allele-specific TaqMan assay and immunohistochemistry in BRAFV600E detection (κ = 0.83, P < 0.01) with 86 of 97 melanomas (88.7%) presenting similar BRAF status. Germline MC1R variants were identified in 81.4% (35/43) of MPM patients with no association of MC1R genotype with somatic mutations or with intrapatient concordance of somatic mutational profile. Our results support the genetic diversity of multiple melanomas and show that somatic heterogeneity is not influenced by inherited MC1R variants. Immunohistochemistry may be useful as an initial screening test." @default.
- W2766873376 created "2017-11-10" @default.
- W2766873376 creator A5015050981 @default.
- W2766873376 creator A5019214982 @default.
- W2766873376 creator A5019401595 @default.
- W2766873376 creator A5021496401 @default.
- W2766873376 creator A5024444811 @default.
- W2766873376 creator A5032537616 @default.
- W2766873376 creator A5037383523 @default.
- W2766873376 creator A5038153493 @default.
- W2766873376 creator A5055362200 @default.
- W2766873376 creator A5065962683 @default.
- W2766873376 creator A5071539969 @default.
- W2766873376 creator A5079740067 @default.
- W2766873376 creator A5080423859 @default.
- W2766873376 date "2018-01-01" @default.
- W2766873376 modified "2023-09-27" @default.
- W2766873376 title "Heterogeneity of BRAF, NRAS, and TERT Promoter Mutational Status in Multiple Melanomas and Association with MC1R Genotype" @default.
- W2766873376 cites W1516437155 @default.
- W2766873376 cites W1744618496 @default.
- W2766873376 cites W1757182694 @default.
- W2766873376 cites W1965304382 @default.
- W2766873376 cites W1980625127 @default.
- W2766873376 cites W1985450903 @default.
- W2766873376 cites W1989827854 @default.
- W2766873376 cites W1993057815 @default.
- W2766873376 cites W1996429288 @default.
- W2766873376 cites W1998649993 @default.
- W2766873376 cites W2011254551 @default.
- W2766873376 cites W2013035104 @default.
- W2766873376 cites W2017098545 @default.
- W2766873376 cites W2032141839 @default.
- W2766873376 cites W2035640092 @default.
- W2766873376 cites W2037433552 @default.
- W2766873376 cites W2038504586 @default.
- W2766873376 cites W2056936705 @default.
- W2766873376 cites W2058219340 @default.
- W2766873376 cites W2061734521 @default.
- W2766873376 cites W2071621286 @default.
- W2766873376 cites W2080029881 @default.
- W2766873376 cites W2080516029 @default.
- W2766873376 cites W2080643677 @default.
- W2766873376 cites W2081047047 @default.
- W2766873376 cites W2085412766 @default.
- W2766873376 cites W2086659622 @default.
- W2766873376 cites W2086665248 @default.
- W2766873376 cites W2100648384 @default.
- W2766873376 cites W2104500293 @default.
- W2766873376 cites W2109545379 @default.
- W2766873376 cites W2127241076 @default.
- W2766873376 cites W2127630510 @default.
- W2766873376 cites W2142353380 @default.
- W2766873376 cites W2151446798 @default.
- W2766873376 cites W2155058789 @default.
- W2766873376 cites W2158637523 @default.
- W2766873376 cites W2161917991 @default.
- W2766873376 cites W2163675768 @default.
- W2766873376 cites W2167588573 @default.
- W2766873376 cites W2167835377 @default.
- W2766873376 cites W2168219489 @default.
- W2766873376 cites W2170910559 @default.
- W2766873376 cites W2218182193 @default.
- W2766873376 cites W2261233232 @default.
- W2766873376 cites W2329548599 @default.
- W2766873376 cites W2339864531 @default.
- W2766873376 cites W2474228978 @default.
- W2766873376 cites W2559791714 @default.
- W2766873376 cites W2561969821 @default.
- W2766873376 cites W2563821673 @default.
- W2766873376 cites W2589017165 @default.
- W2766873376 cites W4234254898 @default.
- W2766873376 doi "https://doi.org/10.1016/j.jmoldx.2017.10.002" @default.
- W2766873376 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29061376" @default.
- W2766873376 hasPublicationYear "2018" @default.
- W2766873376 type Work @default.
- W2766873376 sameAs 2766873376 @default.
- W2766873376 citedByCount "21" @default.
- W2766873376 countsByYear W27668733762017 @default.
- W2766873376 countsByYear W27668733762018 @default.
- W2766873376 countsByYear W27668733762019 @default.
- W2766873376 countsByYear W27668733762020 @default.
- W2766873376 countsByYear W27668733762021 @default.
- W2766873376 countsByYear W27668733762022 @default.
- W2766873376 countsByYear W27668733762023 @default.
- W2766873376 crossrefType "journal-article" @default.
- W2766873376 hasAuthorship W2766873376A5015050981 @default.
- W2766873376 hasAuthorship W2766873376A5019214982 @default.
- W2766873376 hasAuthorship W2766873376A5019401595 @default.
- W2766873376 hasAuthorship W2766873376A5021496401 @default.
- W2766873376 hasAuthorship W2766873376A5024444811 @default.
- W2766873376 hasAuthorship W2766873376A5032537616 @default.
- W2766873376 hasAuthorship W2766873376A5037383523 @default.
- W2766873376 hasAuthorship W2766873376A5038153493 @default.
- W2766873376 hasAuthorship W2766873376A5055362200 @default.
- W2766873376 hasAuthorship W2766873376A5065962683 @default.
- W2766873376 hasAuthorship W2766873376A5071539969 @default.
- W2766873376 hasAuthorship W2766873376A5079740067 @default.
- W2766873376 hasAuthorship W2766873376A5080423859 @default.