APC c.1195_1196delinsCA ;(p.R399Q)

Variant ID: 5-112154924-AG-CA

NM_000038.5(APC):c.1195_1196delinsCA;(p.R399Q)

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Meta-Analysis of 49 SNPs Covering 25,446 Cases and 41,106 Controls Identifies Polymorphisms in Hormone Regulation and DNA Repair Genes Associated with Increased Endometrial Cancer Risk.

Genes
Das, Agneesh Pratim AP; Chaudhary, Nisha N; Tyagi, Shrishty S; Agarwal, Subhash M SM
Publication Date: 2023-03-17

Variant appearance in text: APC: R399Q
PubMed Link: 36981012
Variant Present in the following documents:
  • genes-14-00741.pdf
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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: APC: R399Q
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
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The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review.

Cancers
Wang, Guanwu G; Heij, Lara Rosaline LR; Liu, Dong D; Dahl, Edgar E; Lang, Sven Arke SA; Ulmer, Tom Florian TF; Luedde, Tom T; Neumann, Ulf Peter UP; Bednarsch, Jan J
Publication Date: 2022-12-02

Variant appearance in text: APC: Arg399Gln
PubMed Link: 36497451
Variant Present in the following documents:
  • cancers-14-05969.pdf
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Targeting DNA damage response as a potential therapeutic strategy for head and neck squamous cell carcinoma.

Frontiers In Oncology
Lei, Huimin H; He, Ading A; Jiang, Yingying Y; Ruan, Min M; Han, Nannan N
Publication Date: 2022

Variant appearance in text: APC: Arg399Gln
PubMed Link: 36338767
Variant Present in the following documents:
  • fonc-12-1031944.pdf
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Noninvasive circulating tumor cell and urine cellular XPC (rs2228001, A2815C) and XRCC1 (rs25487, G1196A) polymorphism detection as an effective screening panel for genitourinary system cancers.

Translational Cancer Research
Wu, Cen C; Xu, Cheng C; Wang, Guaxiu G; Zhang, Dahu D; Zhao, Xiaoyu X
Publication Date: 2019-12

Variant appearance in text: APC: Arg399Gln
PubMed Link: 35117037
Variant Present in the following documents:
  • Main text
  • tcr-08-08-2803.pdf
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A comprehensive meta-analysis and a case-control study give insights into genetic susceptibility of lung cancer and subgroups.

Scientific Reports
Sengupta, Debmalya D; Banerjee, Souradeep S; Mukhopadhyay, Pramiti P; Mitra, Ritabrata R; Chaudhuri, Tamohan T; Sarkar, Abhijit A; Bhattacharjee, Gautam G; Nath, Somsubhra S; Roychoudhury, Susanta S; Bhattacharjee, Samsiddhi S; Sengupta, Mainak M
Publication Date: 2021-07-16

Variant appearance in text: APC: Arg399Gln
PubMed Link: 34272429
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_92275.pdf
View BVdb publication page



The Association of Polymorphisms in Base Excision Repair Genes with Ovarian Cancer Susceptibility in Chinese Women: A Two-Center Case-Control Study.

Journal Of Cancer
Zhang, Mingyao M; Zhao, Zhiguang Z; Chen, Sailing S; Liang, Zongwen Z; Zhu, Jiawei J; Zhao, Manman M; Xu, Chaoyi C; He, Jing J; Duan, Ping P; Zhang, Anqi A
Publication Date: 2021

Variant appearance in text: APC: Arg399Gln
PubMed Link: 33391423
Variant Present in the following documents:
  • jcav12p0264.pdf
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Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes.

Cancers
Rybicka, Magda M; Woziwodzka, Anna A; Sznarkowska, Alicja A; Romanowski, Tomasz T; Stalke, Piotr P; Dręczewski, Marcin M; Verrier, Eloi R ER; Baumert, Thomas F TF; Bielawski, Krzysztof Piotr KP
Publication Date: 2020-11-07

Variant appearance in text: APC: Arg399Gln
PubMed Link: 33171788
Variant Present in the following documents:
  • Main text
View BVdb publication page



MUTYH: Not just polyposis.

World Journal Of Clinical Oncology
Curia, Maria Cristina MC; Catalano, Teresa T; Aceto, Gitana Maria GM
Publication Date: 2020-07-24

Variant appearance in text: APC: Arg399Gln
PubMed Link: 32821650
Variant Present in the following documents:
  • Main text
  • WJCO-11-428.pdf
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A Scoping Review of Interactions between Omega-3 Long-Chain Polyunsaturated Fatty Acids and Genetic Variation in Relation to Cancer Risk.

Nutrients
Yurko-Mauro, Karin K; Van Elswyk, Mary M; Teo, Lynn L
Publication Date: 2020-06-02

Variant appearance in text: APC: Arg399Gln
PubMed Link: 32498320
Variant Present in the following documents:
  • Main text
  • nutrients-12-01647.pdf
View BVdb publication page



Environmental exposures and breast cancer risk in the context of underlying susceptibility: A systematic review of the epidemiological literature.

Environmental Research
Zeinomar, Nur N; Oskar, Sabine S; Kehm, Rebecca D RD; Sahebzeda, Shamin S; Terry, Mary Beth MB
Publication Date: 2020-08

Variant appearance in text: APC: Arg399Gln
PubMed Link: 32445942
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rating the environmental and genetic risk factors for colorectal cancer.

Journal Of Medicine And Life
Toma, M M; Beluşică, L L; Stavarachi, M M; Apostol, P P; Spandole, S S; Radu, I I; Cimponeriu, D D
Publication Date: 2012

Variant appearance in text: APC: Arg399Gln
PubMed Link: 31803304
Variant Present in the following documents:
  • Main text
  • JMedLife-5-152.pdf
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Outcome Definition Influences the Relationship Between Genetic Polymorphisms of ERCC1, ERCC2, SLC22A2 and Cisplatin Nephrotoxicity in Adult Testicular Cancer Patients.

Genes
Zazuli, Zulfan Z; Otten, Leila S LS; Drögemöller, Britt I BI; Medeiros, Mara M; Monzon, Jose G JG; Wright, Galen E B GEB; Kollmannsberger, Christian K CK; Bedard, Philippe L PL; Chen, Zhuo Z; Gelmon, Karen A KA; McGoldrick, Nicole N; Kitchlu, Abhijat A; Vijverberg, Susanne J H SJH; Masereeuw, Rosalinde R; Ross, Colin J D CJD; Liu, Geoffrey G; Carleton, Bruce C BC; Maitland-van der Zee, Anke H AH
Publication Date: 2019-05-10

Variant appearance in text: APC: Arg399Gln
PubMed Link: 31083486
Variant Present in the following documents:
  • genes-10-00364.pdf
View BVdb publication page



SNPs in predicting clinical efficacy and toxicity of chemotherapy: walking through the quicksand.

Oncotarget
Palmirotta, Raffaele R; Carella, Claudia C; Silvestris, Erica E; Cives, Mauro M; Stucci, Stefania Luigia SL; Tucci, Marco M; Lovero, Domenica D; Silvestris, Franco F
Publication Date: 2018-05-18

Variant appearance in text: APC: Arg399Gln
PubMed Link: 29861877
Variant Present in the following documents:
  • Main text
  • oncotarget-09-25355.pdf
View BVdb publication page



XPD-The Lynchpin of NER: Molecule, Gene, Polymorphisms, and Role in Colorectal Carcinogenesis.

Frontiers In Molecular Biosciences
Sameer, Aga Syed AS; Nissar, Saniya S
Publication Date: 2018

Variant appearance in text: APC: Arg399Gln
PubMed Link: 29616226
Variant Present in the following documents:
  • fmolb-05-00023.pdf
View BVdb publication page



Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology
Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A
Publication Date: 2017-06-14

Variant appearance in text: APC: Arg399Gln
PubMed Link: 28652652
Variant Present in the following documents:
  • Main text
  • WJG-23-3978.pdf
View BVdb publication page



Cell cycle-dependent degradation of the methyltransferase SETD3 attenuates cell proliferation and liver tumorigenesis.

The Journal Of Biological Chemistry
Cheng, Xiaoqing X; Hao, Yuan Y; Shu, Wenjie W; Zhao, Mengjie M; Zhao, Chen C; Wu, Yuan Y; Peng, Xiaodan X; Yao, Pinfang P; Xiao, Daibiao D; Qing, Guoliang G; Pan, Zhengying Z; Yin, Lei L; Hu, Desheng D; Du, Hai-Ning HN
Publication Date: 2017-06-02

Variant appearance in text: APC: R399Q
PubMed Link: 28442573
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics in Pediatric Oncology: Review of Gene-Drug Associations for Clinical Use.

International Journal Of Molecular Sciences
Mlakar, Vid V; Huezo-Diaz Curtis, Patricia P; Satyanarayana Uppugunduri, Chakradhara Rao CR; Krajinovic, Maja M; Ansari, Marc M
Publication Date: 2016-09-08

Variant appearance in text: APC: R399Q
PubMed Link: 27618021
Variant Present in the following documents:
  • Main text
  • ijms-17-01502.pdf
View BVdb publication page



Gut Microbiota Imbalance and Base Excision Repair Dynamics in Colon Cancer.

Journal Of Cancer
Ray, Debolina D; Kidane, Dawit D
Publication Date: 2016

Variant appearance in text: APC: Arg399Gln
PubMed Link: 27471558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Response to angiotensin blockade with irbesartan in a patient with metastatic colorectal cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Jones, M R MR; Schrader, K A KA; Shen, Y Y; Pleasance, E E; Ch'ng, C C; Dar, N N; Yip, S S; Renouf, D J DJ; Schein, J E JE; Mungall, A J AJ; Zhao, Y Y; Moore, R R; Ma, Y Y; Sheffield, B S BS; Ng, T T; Jones, S J M SJ; Marra, M A MA; Laskin, J J; Lim, H J HJ
Publication Date: 2016-05

Variant appearance in text: APC: Arg399Gln
PubMed Link: 27022066
Variant Present in the following documents:
  • supp_mdw060_mdw060supp_table2.xlsx, sheet 2
View BVdb publication page



Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One
de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP
Publication Date: 2016

Variant appearance in text: APC: R399Q
PubMed Link: 26919633
Variant Present in the following documents:
  • pone.0149405.s010.xlsx, sheet 2
View BVdb publication page



Single Nucleotide Polymorphisms as Prognostic and Predictive Factors of Adjuvant Chemotherapy in Colorectal Cancer of Stages I and II.

Gastroenterology Research And Practice
Horvat, Matej M; Potočnik, Uroš U; Repnik, Katja K; Kavalar, Rajko R; Štabuc, Borut B
Publication Date: 2016

Variant appearance in text: APC: Arg399Gln
PubMed Link: 26884752
Variant Present in the following documents:
  • Main text
View BVdb publication page



Treatment of non-muscle invasive bladder cancer with Bacillus Calmette-Guerin (BCG): Biological markers and simulation studies.

Bba Clinical
Kiselyov, Alex A; Bunimovich-Mendrazitsky, Svetlana S; Startsev, Vladimir V
Publication Date: 2015-12

Variant appearance in text: APC: Arg399Gln
PubMed Link: 26673853
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Challenges of deciphering gastric cancer heterogeneity.

World Journal Of Gastroenterology
Hudler, Petra P
Publication Date: 2015-10-07

Variant appearance in text: APC: Arg399Gln
PubMed Link: 26457012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer.

Cancer Research And Treatment
Joo, Jungnam J; Yoon, Kyong-Ah KA; Hayashi, Tomonori T; Kong, Sun-Young SY; Shin, Hye-Jin HJ; Park, Boram B; Kim, Young Min YM; Hwang, Sang-Hyun SH; Kim, Jeongseon J; Shin, Aesun A; Kim, Joo-Young JY
Publication Date: 2016-04

Variant appearance in text: APC: Arg399Gln
PubMed Link: 26130668
Variant Present in the following documents:
  • Main text
  • crt-2015-098.pdf
View BVdb publication page



Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years.

World Journal Of Gastroenterology
Panczyk, Mariusz M
Publication Date: 2014-08-07

Variant appearance in text: APC: Arg399Gln
PubMed Link: 25110414
Variant Present in the following documents:
  • Main text
View BVdb publication page



XPD gene polymorphism and colorectal cancer risk.

Gastroenterology And Hepatology From Bed To Bench
Kashfi, Seyed Mohammad Hossein SM; Nazemalhosseini Mojarad, Ehsan E; Haghighi, Mahdi Montazer MM
Publication Date: 2013

Variant appearance in text: APC: ARG399GLN
PubMed Link: 24834255
Variant Present in the following documents:
  • GHFBB-6-110.pdf
View BVdb publication page



Genetic susceptibility to therapy-related leukemia after Hodgkin lymphoma or non-Hodgkin lymphoma: role of drug metabolism, apoptosis and DNA repair.

Blood Cancer Journal
Ding, Y Y; Sun, C-L CL; Li, L L; Li, M M; Francisco, L L; Sabado, M M; Hahn, B B; Gyorffy, J J; Noe, J J; Larson, G P GP; Forman, S J SJ; Bhatia, R R; Bhatia, S S
Publication Date: 2012-03

Variant appearance in text: APC: Arg399Gln
PubMed Link: 22829253
Variant Present in the following documents:
View BVdb publication page



Involvement of oxidatively damaged DNA and repair in cancer development and aging.

American Journal Of Translational Research
Tudek, Barbara B; Winczura, Alicja A; Janik, Justyna J; Siomek, Agnieszka A; Foksinski, Marek M; Oliński, Ryszard R
Publication Date: 2010-05-15

Variant appearance in text: APC: Arg399Gln
PubMed Link: 20589166
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: APC: R399Q
PubMed Link: 18547414
Variant Present in the following documents:
  • Main text
  • 1755-8794-1-24.pdf
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Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer.

British Journal Of Cancer
Mort, R R; Mo, L L; McEwan, C C; Melton, D W DW
Publication Date: 2003-07-21

Variant appearance in text: APC: Arg399Gln
PubMed Link: 12865926
Variant Present in the following documents:
  • Main text
  • 89-6601061a.pdf
View BVdb publication page