APC c.5017G>A ;(p.E1673K)

Variant ID: 5-112176308-G-A

NM_000038.5(APC):c.5017G>A;(p.E1673K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: APC: 5017G>A; E1673K; rs587779796
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Nature Communications
Möhrmann, Lino L; Werner, Maximilian M; Oleś, Małgorzata M; Mock, Andreas A; Uhrig, Sebastian S; Jahn, Arne A; Kreutzfeldt, Simon S; Fröhlich, Martina M; Hutter, Barbara B; Paramasivam, Nagarajan N; Richter, Daniela D; Beck, Katja K; Winter, Ulrike U; Pfütze, Katrin K; Heilig, Christoph E CE; Teleanu, Veronica V; Lipka, Daniel B DB; Zapatka, Marc M; Hanf, Dorothea D; List, Catrin C; Allgäuer, Michael M; Penzel, Roland R; Rüter, Gina G; Jelas, Ivan I; Hamacher, Rainer R; Falkenhorst, Johanna J; Wagner, Sebastian S; Brandts, Christian H CH; Boerries, Melanie M; Illert, Anna L AL; Metzeler, Klaus H KH; Westphalen, C Benedikt CB; Desuki, Alexander A; Kindler, Thomas T; Folprecht, Gunnar G; Weichert, Wilko W; Brors, Benedikt B; Stenzinger, Albrecht A; Schröck, Evelin E; Hübschmann, Daniel D; Horak, Peter P; Heining, Christoph C; Fröhling, Stefan S; Glimm, Hanno H
Publication Date: 2022-08-02

Variant appearance in text: APC: 5017G>A; E1673K
PubMed Link: 35918329
Variant Present in the following documents:
  • 41467_2022_31866_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene
Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I
Publication Date: 2021-04

Variant appearance in text: APC: 5017G>A; E1673K
PubMed Link: 33742126
Variant Present in the following documents:
  • EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1
View BVdb publication page



ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene
Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I
Publication Date: 2021-04

Variant appearance in text: APC: 5017G>A; E1673K
PubMed Link: 33742126
Variant Present in the following documents:
  • EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: APC: E1673K
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: APC: 5017G>A; Glu1673Lys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Targeted mutational profiling of peripheral T-cell lymphoma not otherwise specified highlights new mechanisms in a heterogeneous pathogenesis.

Leukemia
Schatz, J H JH; Horwitz, S M SM; Teruya-Feldstein, J J; Lunning, M A MA; Viale, A A; Huberman, K K; Socci, N D ND; Lailler, N N; Heguy, A A; Dolgalev, I I; Migliacci, J C JC; Pirun, M M; Palomba, M L ML; Weinstock, D M DM; Wendel, H-G HG
Publication Date: 2015-01

Variant appearance in text: APC: E1673K
PubMed Link: 25257991
Variant Present in the following documents:
  • Main text
View BVdb publication page