APC c.1500T>A ;(p.Y500*)

Variant ID: 5-112162896-T-A

NM_000038.5(APC):c.1500T>A;(p.Y500*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: APC: 1500T>A; Y500*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Gut
Li, Jingyun J; Wang, Rui R; Zhou, Xin X; Wang, Wendong W; Gao, Shuai S; Mao, Yunuo Y; Wu, Xinglong X; Guo, Limei L; Liu, Haijing H; Wen, Lu L; Fu, Wei W; Tang, Fuchou F
Publication Date: 2020-07

Variant appearance in text: APC: Tyr500*
PubMed Link: 31744909
Variant Present in the following documents:
  • gutjnl-2019-319438supp006.xlsx, sheet 3
  • gutjnl-2019-319438supp006.xlsx, sheet 4
View BVdb publication page



Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

The Journal Of Molecular Diagnostics : Jmd
Dymerska, Dagmara D; Serrano-Fernández, Pablo P; Suchy, Janina J; Pławski, Andrzej A; Słomski, Ryszard R; Kaklewski, Krzysztof K; Scott, Rodney J RJ; Gronwald, Jacek J; Kładny, Józef J; Byrski, Tomasz T; Huzarski, Tomasz T; Lubiński, Jan J; Kurzawski, Grzegorz G
Publication Date: 2010-01

Variant appearance in text: APC: 1500T>A
PubMed Link: 20007843
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent APC gene mutations in Polish FAP families.

Hereditary Cancer In Clinical Practice
Pławski, Andrzej A; Podralska, Marta M; Słomski, Ryszard R
Publication Date: 2007-12-15

Variant appearance in text: APC: Y500X
PubMed Link: 19725996
Variant Present in the following documents:
  • Main text
  • 1897-4287-5-4-195.pdf
View BVdb publication page