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2014 2
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Quoted phrase not found in phrase index: "EIF1AX Gene Mutation"
Page 1
Integrated genomic characterization of papillary thyroid carcinoma.
Cancer Genome Atlas Research Network. Cancer Genome Atlas Research Network. Cell. 2014 Oct 23;159(3):676-90. doi: 10.1016/j.cell.2014.09.050. Cell. 2014. PMID: 25417114 Free PMC article.
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to inclu …
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we describe the genomic landscape of 496 PTCs. We obse …
Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers.
Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA. Landa I, et al. J Clin Invest. 2016 Mar 1;126(3):1052-66. doi: 10.1172/JCI85271. Epub 2016 Feb 15. J Clin Invest. 2016. PMID: 26878173 Free PMC article.
RAS and BRAF sharply distinguished between PDTCs defined by the Turin (PDTC-Turin) versus MSKCC (PDTC-MSK) criteria, respectively. Mutations of EIF1AX, a component of the translational preinitiation complex, were markedly enriched in PDTCs and ATCs and had a strikin …
RAS and BRAF sharply distinguished between PDTCs defined by the Turin (PDTC-Turin) versus MSKCC (PDTC-MSK) criteria, respectively. Mutati …
Poorly Differentiated Carcinoma of the Thyroid Gland: Current Status and Future Prospects.
Ibrahimpasic T, Ghossein R, Shah JP, Ganly I. Ibrahimpasic T, et al. Thyroid. 2019 Mar;29(3):311-321. doi: 10.1089/thy.2018.0509. Thyroid. 2019. PMID: 30747050 Free PMC article. Review.
TERT promoter mutations represent the most common alteration in PDTC (40%). Mutation in translation initiation factor EIF1AX (11%) and tumor suppressor TP53 (16%) have also been reported in PDTC. High rates of novel mutations (MED12 and RBM10) have bee …
TERT promoter mutations represent the most common alteration in PDTC (40%). Mutation in translation initiation factor EIF1A …
Clinical use of Molecular Data in Thyroid Nodules and Cancer.
Alzahrani AS. Alzahrani AS. J Clin Endocrinol Metab. 2023 Oct 18;108(11):2759-2771. doi: 10.1210/clinem/dgad282. J Clin Endocrinol Metab. 2023. PMID: 37200449 Review.
The main drivers in differentiated TC pathogenesis are single-point mutations and gene fusions in components of the Mitogen-activated protein kinase (MAPK) and phosphoinositide-3-kinase-protein kinase B/Akt (PI3K/Akt) pathways. ...Currently, 3 commercially available …
The main drivers in differentiated TC pathogenesis are single-point mutations and gene fusions in components of the Mitogen-ac …
Uveal melanoma: Towards a molecular understanding.
Smit KN, Jager MJ, de Klein A, Kiliҫ E. Smit KN, et al. Prog Retin Eye Res. 2020 Mar;75:100800. doi: 10.1016/j.preteyeres.2019.100800. Epub 2019 Sep 26. Prog Retin Eye Res. 2020. PMID: 31563544 Review.
Several independent studies have recently identified the underlying genetic aberrancies in uveal melanoma, which allow improved tumor classification and prognostication of metastatic disease. In most cases, activating mutations in the Galpha11/Q pathway drive uveal melanom …
Several independent studies have recently identified the underlying genetic aberrancies in uveal melanoma, which allow improved tumor classi …
Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis.
Rose AM, Luo R, Radia UK, Kalirai H, Thornton S, Luthert PJ, Jayasena CN, Verity DH, Coupland SE, Rose GE. Rose AM, et al. BMC Cancer. 2018 Dec 17;18(1):1262. doi: 10.1186/s12885-018-5190-z. BMC Cancer. 2018. PMID: 30558566 Free PMC article.
MLPA was conducted to detect chromosomal alterations and Sanger sequencing used to identify point mutations in candidate melanoma driver genes (BRAF, NRAS, KRAS, GNA11, GNAQ), and other genes implicated in melanoma prognosis (EIF1AX, SF3B1). ...A recur …
MLPA was conducted to detect chromosomal alterations and Sanger sequencing used to identify point mutations in candidate melanoma dri …
SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas.
Küsters-Vandevelde HV, Creytens D, van Engen-van Grunsven AC, Jeunink M, Winnepenninckx V, Groenen PJ, Küsters B, Wesseling P, Blokx WA, Prinsen CF. Küsters-Vandevelde HV, et al. Acta Neuropathol Commun. 2016 Jan 15;4:5. doi: 10.1186/s40478-016-0272-0. Acta Neuropathol Commun. 2016. PMID: 26769193 Free PMC article.
Additionally, BAP1 immunohistochemistry was used as a surrogate marker for the detection of inactivating mutations in the BAP1 gene. RESULTS: Mutations in either SF3B1 or EIF1AX were identified in 8 out of 24 primary LMNs (33 %). ...Complete absence of …
Additionally, BAP1 immunohistochemistry was used as a surrogate marker for the detection of inactivating mutations in the BAP1 gen …
Recent developments in prognostic and predictive testing in uveal melanoma.
Field MG, Harbour JW. Field MG, et al. Curr Opin Ophthalmol. 2014 May;25(3):234-9. doi: 10.1097/ICU.0000000000000051. Curr Opin Ophthalmol. 2014. PMID: 24713608 Free PMC article. Review.
Mutations in BAP1, SF3B1, and EIF1AX are later events that are largely mutually exclusive. Mutations in BAP1 are strongly associated with metastasis, whereas those in SF3B1 and EIF1AX are associated with good prognosis. ...
Mutations in BAP1, SF3B1, and EIF1AX are later events that are largely mutually exclusive. Mutations in BAP1 are strong …
Mutation profiles of follicular thyroid tumors by targeted sequencing.
Duan H, Liu X, Ren X, Zhang H, Wu H, Liang Z. Duan H, et al. Diagn Pathol. 2019 May 10;14(1):39. doi: 10.1186/s13000-019-0817-1. Diagn Pathol. 2019. PMID: 31077238 Free PMC article.
A total of 80% EIF1AX exon 2 mutations (4/5) and 75% TSHR mutations (3/4) occurred in FTA, whereas the rest of them occurred in FT-UMP. ...Both EIF1AX and TERTp mutations predicted shorter disease-free survival (p = 0.007, p = 0.024, resp …
A total of 80% EIF1AX exon 2 mutations (4/5) and 75% TSHR mutations (3/4) occurred in FTA, whereas the rest of them occ …
Molecular profiling of primary uveal melanoma: results of a Polish cohort.
Kowalik A, Karpinski P, Markiewicz A, Orlowska-Heitzman J, Romanowska-Dixon B, Donizy P, Hoang MP. Kowalik A, et al. Melanoma Res. 2023 Apr 1;33(2):104-115. doi: 10.1097/CMR.0000000000000874. Epub 2023 Jan 30. Melanoma Res. 2023. PMID: 36719926
GNAQ mutations gene were detected in 40% (8 cases) and all were p.Q209P. ...BAP1 and GNAQ tumor suppressor genes are more often mutated in UM with metastasis, while GNA11 mutations are more frequently detected in non-metastasizing tumors. ...
GNAQ mutations gene were detected in 40% (8 cases) and all were p.Q209P. ...BAP1 and GNAQ tumor suppressor genes are mo …
29 results