APC c.2547_2548del ;(p.D849Efs*62)

Variant ID: 5-112173836-GAT-G

NM_000038.5(APC):c.2547_2548del;(p.D849Efs*62)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Scientific Reports
Lim, Yoojoo Y; Kim, Sheehyun S; Kang, Jun-Kyu JK; Kim, Hwang-Phill HP; Jang, Hoon H; Han, Hyojun H; Kim, Hyoki H; Kim, Min Jung MJ; Lee, Kyung-Hun KH; Ryoo, Seung-Bum SB; Park, Ji Won JW; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Kang, Gyeong Hoon GH; Han, Sae-Won SW; Kim, Tae-You TY
Publication Date: 2021-08-11

Variant appearance in text: APC: 2547_2548delTA; Asp849fs
PubMed Link: 34381078
Variant Present in the following documents:
  • 41598_2021_95345_MOESM5_ESM.xlsx, sheet 1
  • 41598_2021_95345_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: APC: 2547_2548delTA; D849Efs*62
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature.

International Journal Of Molecular And Cellular Medicine
Kashfi, Seyed Mohammad Hossein SM; Behboudi Farahbakhsh, Faeghe F; Golmohammadi, Mina M; Nazemalhosseini Mojarad, Ehsan E; Azimzadeh, Pedram P; Asadzadeh Aghdaie, Hamid H
Publication Date: 2014

Variant appearance in text: APC: 2547_2548delTA; Asp849fsX62
PubMed Link: 25317407
Variant Present in the following documents:
  • Main text
  • ijcm-3-196.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: 2547_2548delTA; Asp849fs
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page