ASPH c.249_250insTCCCA ;(p.L84Sfs*3)

Variant ID: 8-62596601-G-GTGGGA

NM_004318.3(ASPH):c.249_250insTCCCA;(p.L84Sfs*3)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: ASPH: 249_250insTCCCA
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Bmc Cancer
Shahi, Rajendra Bahadur RB; De Brakeleer, Sylvia S; Caljon, Ben B; Pauwels, Ingrid I; Bonduelle, Maryse M; Joris, Sofie S; Fontaine, Christel C; Vanhoeij, Marian M; Van Dooren, Sonia S; Teugels, Erik E; De Grève, Jacques J
Publication Date: 2019-04-04

Variant appearance in text: ASPH: 249_250insTCCCA
PubMed Link: 30947698
Variant Present in the following documents:
  • 12885_2019_5494_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page