APC c.1621C>T ;(p.Q541*)

Variant ID: 5-112163698-C-T

NM_000038.5(APC):c.1621C>T;(p.Q541*)

This variant was identified in 11 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: 1621C>T; Gln541Ter; rs137854572
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: APC: 1621C>T; Gln541Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Precision medicine-based therapies in advanced colorectal cancer: The University of California San Diego Molecular Tumor Board experience.

Molecular Oncology
Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Lee, Suzanna S; Okamura, Ryosuke R; Fanta, Paul T PT; Kurzrock, Razelle R
Publication Date: 2022-07

Variant appearance in text: APC: Q541*
PubMed Link: 35238467
Variant Present in the following documents:
  • MOL2-16-2575-s001.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: APC: Q541*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: APC: Q541X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Gut
Kleeman, Sam O SO; Koelzer, Viktor H VH; Jones, Helen Js HJ; Vazquez, Ester Gil EG; Davis, Hayley H; East, James E JE; Arnold, Roland R; Koppens, Martijn Aj MA; Blake, Andrew A; Domingo, Enric E; Cunningham, Chris C; Beggs, Andrew D AD; Pestinger, Valerie V; Loughrey, Maurice B MB; Wang, Lai-Mun LM; Lannagan, Tamsin Rm TR; Woods, Susan L SL; Worthley, Daniel D; Consortium, S Cort SC; Tomlinson, Ian I; Dunne, Philip D PD; Maughan, Timothy T; Leedham, Simon J SJ
Publication Date: 2020-06

Variant appearance in text: APC: 1621C>T; Q541*
PubMed Link: 31563876
Variant Present in the following documents:
  • gutjnl-2019-319126supp003.xlsx, sheet 3
View BVdb publication page



Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Cancer Medicine
Chang, Ya-Sian YS; Lee, Chien-Chin CC; Ke, Tao-Wei TW; Chang, Chieh-Min CM; Chao, Dy-San DS; Huang, Hsi-Yuan HY; Chang, Jan-Gowth JG
Publication Date: 2019-07

Variant appearance in text: APC: Q541*
PubMed Link: 31127692
Variant Present in the following documents:
  • Main text
  • CAM4-8-3738.pdf
View BVdb publication page



The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

Biomed Research International
Censi, F F; Tosto, F F; Floridia, G G; Marra, M M; Salvatore, M M; Baffico, A M AM; Grasso, M M; Melis, M A MA; Pelo, E E; Radice, P P; Ravani, A A; Rosatelli, C C; Resta, N N; Russo, S S; Seia, M M; Varesco, L L; Falbo, V V; Taruscio, D D
Publication Date: 2013

Variant appearance in text: APC: 1621C>T
PubMed Link: 23484150
Variant Present in the following documents:
  • Main text
  • BMRI2013-739010.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: 1621C>T; Gln541X
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial adenomatous polyposis.

Orphanet Journal Of Rare Diseases
Half, Elizabeth E; Bercovich, Dani D; Rozen, Paul P
Publication Date: 2009-10-12

Variant appearance in text: APC: Q541X
PubMed Link: 19822006
Variant Present in the following documents:
  • 1750-1172-4-22.pdf
View BVdb publication page



Fundic gland polyps in familial adenomatous polyposis: neoplasms with frequent somatic adenomatous polyposis coli gene alterations.

The American Journal Of Pathology
Abraham, S C SC; Nobukawa, B B; Giardiello, F M FM; Hamilton, S R SR; Wu, T T TT
Publication Date: 2000-09

Variant appearance in text: APC: Q541X
PubMed Link: 10980114
Variant Present in the following documents:
  • Main text
View BVdb publication page