MUC16 c.40677_40678insTGGT ;(p.P13560Wfs*22)

Variant ID: 19-8999497-G-GACCA

NM_024690.2(MUC16):c.40677_40678insTGGT;(p.P13560Wfs*22)

This variant was identified in 9 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: MUC16: 40677_40678insTGGT; P13560Wfs*22
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 4
View BVdb publication page



Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation
Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M
Publication Date: 2023-03-16

Variant appearance in text: MUC16: 40677_40678insTGGT; rs770233746
PubMed Link: 36928090
Variant Present in the following documents:
  • jci-133-164413-s196.xlsx, sheet 1
View BVdb publication page



Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: MUC16: 40677_40678insTGGT
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: MUC16: 40677_40678insTGGT; Pro13560Trpfs*22; rs770233746
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM16_ESM.xlsx, sheet 1
View BVdb publication page



A Population-Specific Major Allele Reference Genome From The United Arab Emirates Population.

Frontiers In Genetics
Daw Elbait, Gihan G; Henschel, Andreas A; Tay, Guan K GK; Al Safar, Habiba S HS
Publication Date: 2021

Variant appearance in text: rs770233746
PubMed Link: 33968136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Genome Medicine
Quevedo, Rene R; Spreafico, Anna A; Bruce, Jeff J; Danesh, Arnavaz A; El Ghamrasni, Samah S; Giesler, Amanda A; Hanna, Youstina Y; Have, Cherry C; Li, Tiantian T; Yang, S Y Cindy SYC; Zhang, Tong T; Asa, Sylvia L SL; Haibe-Kains, Benjamin B; Krzyzanowska, Monika M; Smith, Adam C AC; Singh, Simron S; Siu, Lillian L LL; Pugh, Trevor J TJ
Publication Date: 2020-04-28

Variant appearance in text: MUC16: 40677_40678insTGGT; P13560fs
PubMed Link: 32345369
Variant Present in the following documents:
  • 13073_2020_730_MOESM5_ESM.xlsx, sheet 1
  • 13073_2020_730_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: MUC16: 40677_40678insTGGT; rs770233746
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.

Human Genome Variation
Takahashi, Kazumi K; Hayano, Takahide T; Sugimoto, Ryota R; Kashiwagi, Hirofumi H; Shinoda, Mari M; Nishijima, Yoshihiro Y; Suzuki, Takahiro T; Suzuki, Shingo S; Ohnuki, Yuko Y; Kondo, Akane A; Shiina, Takashi T; Nakaoka, Hirofumi H; Inoue, Ituro I; Izumi, Shun-Ichiro SI
Publication Date: 2018

Variant appearance in text: MUC16: 40677_40678insTGGT; P13560fs
PubMed Link: 30302266
Variant Present in the following documents:
  • 41439_2018_28_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: MUC16: 40677_40678insTGGT; P13560fs
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page