PMID: 37138345

P16 immunohistochemistry is a sensitive and specific surrogate marker for CDKN2A homozygous deletion in gliomas.

Acta neuropathologica communications
Vij, Meenakshi M, Cho, Benjamin B BB, Yokoda, Raquel T RT, Rashidipour, Omid O, Umphlett, Melissa M, Richardson, Timothy E TE, Tsankova, Nadejda M NM
2023-05-03

51 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-140453136-A-T BRAF c.1799T>A p.V600E Missense 15/18 -
7-55259524-T-A EGFR c.2582T>A p.L861Q Missense 21/28 -
7-55221822-C-T EGFR c.866C>T p.A289V Missense 7/28 -
7-55233043-G-T EGFR c.1793G>T p.G598V Missense 15/28 -
7-55221821-G-A EGFR c.865G>A p.A289T Missense 7/28 -
17-7578406-C-T TP53 c.524G>A p.R175H Missense 5/11 -
12-25398284-C-T KRAS c.35G>A p.G12D Missense 2/5 -
17-7577121-G-A TP53 c.817C>T p.R273C Missense 8/11 -
17-7578526-C-A TP53 c.404G>T p.C135F Missense 5/11 -
12-112888210-G-A PTPN11 c.226G>A p.E76K Missense 3/16 -
17-7578517-G-A TP53 c.413C>T p.A138V Missense 5/11 -
10-89717730-A-G PTEN c.755A>G p.D252G Missense 7/9 -
7-55240690-C-G EGFR c.1934C>G p.S645C Missense 17/28 -
2-209113112-C-T IDH1 c.395G>A p.R132H Missense 4/10 -
17-7577565-T-C TP53 c.716A>G p.N239S Missense 7/11 -
12-112888172-A-G PTPN11 c.188A>G p.Y63C Missense 3/16 -
12-112888199-C-T PTPN11 c.215C>T p.A72V Missense 3/16 -
7-86394514-G-A GRM3 c.53G>A p.G18E Missense 2/6 -
10-89692896-G-A PTEN c.380G>A p.G127E Missense 5/9 -
3-178952006-T-C PIK3CA c.3061T>C p.Y1021H Missense 21/21 -
3-178951964-G-C PIK3CA c.3019G>C p.G1007R Missense 21/21 -
10-89692923-G-T PTEN c.407G>T p.C136F Missense 5/9 -
17-7578479-G-C TP53 c.451C>G p.P151A Missense 5/11 -
5-56177843-C-G MAP3K1 c.2816C>G p.S939C Missense 14/20 -
7-55268968-G-C EGFR c.3034G>C p.D1012H Missense 25/28 -
17-7578262-C-T TP53 c.587G>A p.R196Q Missense 6/11 -
10-89692851-T-C PTEN c.335T>C p.L112P Missense 5/9 -
17-29508736-G-A NF1 c.663G>A p.W221* Nonsense 7/58 -
5-1294065-CC-AT TERT c.935_936delGGinsAT p.R312H Missense 2/16 -
9-5081828-G-C JAK2 c.2538G>C p.E846D Missense 19/25 -
9-5081828-G-T JAK2 c.2538G>T p.E846D Missense 19/25 -
X-76939492-G-A ATRX c.1256C>T p.A419V Missense 9/35 -
5-38962438-T-C RICTOR c.1694A>G p.Y565C Missense 19/38 -
2-29754929-G-A ALK c.1006C>T p.P336S Missense 4/29 -
10-89720693-G-T PTEN c.844G>T p.G282* Nonsense 8/9 -
17-29508735-G-A NF1 c.662G>A p.W221* Nonsense 7/58 -
3-178916920-TGAA-T PIK3CA c.307_309delGAA p.E103del InFrameDeletion 2/21 -
10-89653809-G-T PTEN c.107G>T p.G36V Missense 2/9 -
10-89720826-A-G PTEN c.977A>G p.D326G Missense 8/9 -
17-78867557-G-A RPTOR c.2293G>A p.A765T Missense 20/34 -
17-29559092-G-T NF1 c.3199G>T p.D1067Y Missense 25/58 -
7-55229201-G-C EGFR c.1508G>C p.G503A Missense 13/28 -
1-27056271-CGGG-C ARID1A c.1267_1269delGGG p.G423del InFrameDeletion 2/20 -
13-110437267-CGCG-C IRS2 c.1131_1133delCGC p.A378del InFrameDeletion 1/2 -
12-1042189-CACG-C RAD52 c.34_36delCGT p.R12del InFrameDeletion 2/12 -
20-57466818-CGC-TGG GNAS c.37_39delCGCinsTGG p.R13W Missense 1/13 -
1-43803901-C-T MPL c.211C>T p.R71W Missense 2/12 -
6-49421400-TCT-ATG MMUT c.979_981delAGAinsCAT p.R327H Missense 5/13 -
19-11098425-C-T SMARCA4 c.943C>T p.P315S Missense 6/35 -
9-5080644-AGA-TGG JAK2 c.2395_2397delAGAinsTGG p.R799W Missense 18/25 -
2-29416173-C-G ALK c.4780G>C p.E1594Q Missense 29/29 -