APC c.3077A>G ;(p.N1026S)

Variant ID: 5-112174368-A-G

NM_000038.5(APC):c.3077A>G;(p.N1026S)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022

Variant appearance in text: APC: N1026S
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: APC: N1026S
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.

Genes
Disciglio, Vittoria V; Forte, Giovanna G; Fasano, Candida C; Sanese, Paola P; Lepore Signorile, Martina M; De Marco, Katia K; Grossi, Valentina V; Cariola, Filomena F; Simone, Cristiano C
Publication Date: 2021-02-28

Variant appearance in text: APC: N1026S
PubMed Link: 33670833
Variant Present in the following documents:
  • Main text
  • genes-12-00353.pdf
View BVdb publication page



Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.

Plos One
Karabachev, Alexander D AD; Martini, Dylan J DJ; Hermel, David J DJ; Solcz, Dana D; Richardson, Marcy E ME; Pesaran, Tina T; Sarkar, Indra Neil IN; Greenblatt, Marc S MS
Publication Date: 2020

Variant appearance in text: APC: N1026S
PubMed Link: 32750050
Variant Present in the following documents:
  • Main text
  • pone.0233673.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: APC: N1026S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



IFN/STAT signaling controls tumorigenesis and the drug response in colorectal cancer.

Cancer Science
Sakahara, Mizuho M; Okamoto, Takuya T; Oyanagi, Jun J; Takano, Hiroshi H; Natsume, Yasuko Y; Yamanaka, Hitomi H; Kusama, Daisuke D; Fusejima, Mishio M; Tanaka, Norio N; Mori, Seiich S; Kawachi, Hiroshi H; Ueno, Masashi M; Sakai, Yoshiharu Y; Noda, Tetsuo T; Nagayama, Satoshi S; Yao, Ryoji R
Publication Date: 2019-04

Variant appearance in text: APC: N1026S
PubMed Link: 30724425
Variant Present in the following documents:
  • CAS-110-1293.pdf
View BVdb publication page



Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.

Molecular Medicine Reports
Liu, Wei Qing WQ; Dong, Jian J; Peng, Yan Xia YX; Li, Wen Liang WL; Yang, Jun J
Publication Date: 2018-12

Variant appearance in text: APC: N1026S
PubMed Link: 30272267
Variant Present in the following documents:
  • mmr-18-06-4931.pdf
View BVdb publication page



Current status of familial gastrointestinal polyposis syndromes.

World Journal Of Gastrointestinal Oncology
Jung, Ioan I; Gurzu, Simona S; Turdean, Gligore Sabin GS
Publication Date: 2015-11-15

Variant appearance in text: APC: N1026S
PubMed Link: 26600934
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allele-specific expression of APC in adenomatous polyposis families.

Gastroenterology
Castellsagué, Ester E; González, Sara S; Guinó, Elisabet E; Stevens, Kristen N KN; Borràs, Ester E; Raymond, Victoria M VM; Lázaro, Conxi C; Blanco, Ignacio I; Gruber, Stephen B SB; Capellá, Gabriel G
Publication Date: 2010-08

Variant appearance in text: APC: 3077A>G; Asn1026Ser
PubMed Link: 20434453
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.

Mutation Research
Heinen, Christopher D CD
Publication Date: 2010-11-10

Variant appearance in text: APC: N1026S
PubMed Link: 19766128
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

The Journal Of Molecular Diagnostics : Jmd
Kaufmann, Astrid A; Vogt, Stefanie S; Uhlhaas, Siegfried S; Stienen, Dietlinde D; Kurth, Ingo I; Hameister, Horst H; Mangold, Elisabeth E; Kötting, Judith J; Kaminsky, Elke E; Propping, Peter P; Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2009-03

Variant appearance in text: APC: 3077A>G; Asn1026Ser
PubMed Link: 19196998
Variant Present in the following documents:
  • Main text
View BVdb publication page