APC c.416_419del ;(p.K139Rfs*30)

Variant ID: 5-112103077-GAGAA-G

NM_000038.5(APC):c.416_419del;(p.K139Rfs*30)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: APC: 416_419delAAGA; K139Rfs*30
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: APC: 416_419delAAGA; K139Rfs*30
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer
Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ
Publication Date: 2020-02

Variant appearance in text: APC: 413_416delAGAA
PubMed Link: 31857723
Variant Present in the following documents:
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 4
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

Familial Cancer
Papp, Janos J; Kovacs, Marietta Eva ME; Matrai, Zoltan Z; Orosz, Enikő E; Kásler, Miklós M; Børresen-Dale, Anne-Lise AL; Olah, Edith E
Publication Date: 2016-01

Variant appearance in text: APC: 416_419del; Lys139Argfs*30
PubMed Link: 26446593
Variant Present in the following documents:
  • Main text
  • 10689_2015_Article_9845.pdf
View BVdb publication page



Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15

Variant appearance in text: APC: 416_419delAAGA; Lys139fs
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page



Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

Bmc Medicine
Kanter-Smoler, Gunilla G; Fritzell, Kaisa K; Rohlin, Anna A; Engwall, Yvonne Y; Hallberg, Birgitta B; Bergman, Annika A; Meuller, Johan J; Grönberg, Henrik H; Karlsson, Per P; Björk, Jan J; Nordling, Margareta M
Publication Date: 2008-04-24

Variant appearance in text: N/A
PubMed Link: 18433509
Variant Present in the following documents:
View BVdb publication page