Variant ID: 1-45797505-C-G

NM_012222.2(MUTYH):c.1005G>C;(p.Gln335His)

This variant was identified in 68 publications




Publications:


MUTYH: Not just polyposis.

World Journal Of Clinical Oncology
MC Curia, T Catalano, GM Aceto
Publication Date: 2020-07-24

Variant appearance in text: rs3219489
PubMed Link: 32821650
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oxidative Damage in Sporadic Colorectal Cancer: Molecular Mapping of Base Excision Repair Glycosylases in Colorectal Cancer Patients.

International Journal Of Molecular Sciences
P Vodicka, M Urbanova, P Makovicky, K Tomasova, M Kroupa, R Stetina, A Opattova, K Kostovcikova, A Siskova, M Schneiderova, V Vymetalkova, L Vodickova
Publication Date: 2020-04-02

Variant appearance in text: rs3219489
PubMed Link: 32252452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome.

Non-Coding Rna Research
Z Abduljaleel, M Athar, FA Al-Allaf, S Al-Dehlawi, JR Vazquez
Publication Date: 2019-12

Variant appearance in text: rs3219489
PubMed Link: 32072083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population.

Scientific Reports
Z Corredor, MIDS Filho, L Rodríguez-Ribera, A Velázquez, A Hernández, C Catalano, K Hemminki, E Coll, I Silva, JM Diaz, J Ballarin, M Vallés Prats, J Calabia Martínez, A Försti, R Marcos, S Pastor
Publication Date: 2020-01-10

Variant appearance in text: rs3219489
PubMed Link: 31924810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinicopathological and molecular characteristics of abdominal desmoid tumors in the Chinese population: A single-center report of 15 cases.

Oncology Letters
J Wang, N Jia, Q Lin, Y Huang, J Li, Q Jiang, W Liu, J Xu, Y Hou, J Liu, M Li, W Lu, Y Zhou, Y Zhang, H Tong
Publication Date: 2019-12

Variant appearance in text: MUTYH: 1005G>C
PubMed Link: 31807167
Variant Present in the following documents:
  • Main text
  • ol-18-06-6443.pdf
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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports
W Dos Santos, T Sobanski, AC de Carvalho, AF Evangelista, M Matsushita, GN Berardinelli, MA de Oliveira, RM Reis, DP Guimarães
Publication Date: 2019-09-23

Variant appearance in text: MUTYH: Gln335His; rs3219489
PubMed Link: 31548566
Variant Present in the following documents:
  • 41598_2019_49611_MOESM1_ESM.pdf
View BVdb publication page



Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Journal Of Cancer
J Liu, B Zheng, Y Li, Y Yuan, C Xing
Publication Date: 2019

Variant appearance in text: rs3219489
PubMed Link: 31031852
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the MUTYH Gln324His (CAG/CAC) variant with cervical carcinoma and HR-HPV infection in a Chinese population.

Medicine
H Chen, H Wang, J Liu, Q Cheng, X Chen, F Ye
Publication Date: 2019-04

Variant appearance in text: rs3219489
PubMed Link: 31027119
Variant Present in the following documents:
  • Main text
  • medi-98-e15359.pdf
View BVdb publication page



Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Frontiers In Oncology
P Rizzolo, V Silvestri, A Bucalo, V Zelli, V Valentini, I Catucci, I Zanna, G Masala, S Bianchi, AM Spinelli, S Tommasi, MG Tibiletti, A Russo, L Varesco, A Coppa, D Calistri, L Cortesi, A Viel, B Bonanni, J Azzollini, S Manoukian, M Montagna, P Radice, D Palli, P Peterlongo, L Ottini
Publication Date: 2018

Variant appearance in text: rs3219489
PubMed Link: 30564557
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-gene and gene-environment interaction data for platinum-based chemotherapy in non-small cell lung cancer.

Scientific Data
LY Wang, JJ Cui, JY Liu, AX Guo, ZY Zhao, YZ Liu, JC Wu, M Li, CP Hu, Y Gao, HH Zhou, JY Yin
Publication Date: 2018-12-11

Variant appearance in text: rs3219489
PubMed Link: 30531820
Variant Present in the following documents:
  • sdata2018284-s2.docx
View BVdb publication page



Establishment and Characterization of gc-006-03, a Novel Human Signet Ring Cell Gastric Cancer Cell Line Derived from Metastatic Ascites.

Journal Of Cancer
X Su, Y Xue, J Wei, X Huo, Y Gong, H Zhang, R Han, Y Chen, H Chen, J Chen
Publication Date: 2018

Variant appearance in text: rs3219489
PubMed Link: 30271482
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated Genomic Analysis of Hürthle Cell Cancer Reveals Oncogenic Drivers, Recurrent Mitochondrial Mutations, and Unique Chromosomal Landscapes.

Cancer Cell
I Ganly, V Makarov, S Deraje, Y Dong, E Reznik, V Seshan, G Nanjangud, S Eng, P Bose, F Kuo, LGT Morris, I Landa, PB Carrillo Albornoz, N Riaz, YE Nikiforov, K Patel, C Umbricht, M Zeiger, E Kebebew, E Sherman, R Ghossein, JA Fagin, TA Chan
Publication Date: 2018-08-13

Variant appearance in text: rs3219489
PubMed Link: 30107176
Variant Present in the following documents:
  • NIHMS986371-supplement-2.xlsx
View BVdb publication page



Polymorphisms of DNA repair genes are associated with colorectal cancer in patients with Lynch syndrome.

Molecular Genetics & Genomic Medicine
AB Kamiza, LL Hsieh, R Tang, HT Chien, CH Lai, LL Chiu, TP Lo, KY Hung, JF You, WC Wang, CA Hsiung, CC Yeh
Publication Date: 2018-04-17

Variant appearance in text: rs3219489
PubMed Link: 29664240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics
M Dominguez-Valentin, S Nakken, H Tubeuf, D Vodak, PO Ekstrøm, AM Nissen, M Morak, E Holinski-Feder, A Martins, P Møller, E Hovig
Publication Date: 2018-02-20

Variant appearance in text: rs3219489
PubMed Link: 29458332
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between dietary acrylamide intake and genetic variants for estrogen receptor-positive breast cancer risk.

European Journal Of Nutrition
JGF Hogervorst, PA van den Brandt, RWL Godschalk, FJ van Schooten, LJ Schouten
Publication Date: 2019-04

Variant appearance in text: rs3219489
PubMed Link: 29445914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports
J Wang, Q Liu, S Yuan, W Xie, Y Liu, Y Xiang, N Wu, L Wu, X Ma, T Cai, Y Zhang, Z Sun, Y Li
Publication Date: 2017-08-21

Variant appearance in text: rs3219489
PubMed Link: 28827732
Variant Present in the following documents:
  • 41598_2017_7737_MOESM1_ESM.pdf
View BVdb publication page



The Association of Low-Penetrance Variants in DNA Repair Genes with Colorectal Cancer: A Systematic Review and Meta-Analysis.

Clinical And Translational Gastroenterology
N Aggarwal, ND Donald, S Malik, SS Selvendran, MJ McPhail, KJ Monahan
Publication Date: 2017-07-27

Variant appearance in text: rs3219489
PubMed Link: 28749454
Variant Present in the following documents:
  • Main text
  • ctg201735x1.pdf
View BVdb publication page



Gene-gene and gene-environment interactions influence platinum-based chemotherapy response and toxicity in non-small cell lung cancer patients.

Scientific Reports
JJ Cui, LY Wang, T Zhu, WJ Gong, HH Zhou, ZQ Liu, JY Yin
Publication Date: 2017-07-11

Variant appearance in text: rs3219489
PubMed Link: 28698656
Variant Present in the following documents:
  • 41598_2017_5246_MOESM1_ESM.doc
View BVdb publication page



DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: The role of base excision repair genes polymorphisms.

Oncology Letters
AP Azevedo, SN Silva, JP De Lima, A Reichert, F Lima, E Júnior, J Rueff
Publication Date: 2017-06

Variant appearance in text: MUTYH: Q335H; rs3219489
PubMed Link: 28599464
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype.

Oncotarget
P Carrera-Lasfuentes, A Lanas, L Bujanda, M Strunk, E Quintero, S Santolaria, R Benito, F Sopeña, E Piazuelo, C Thomson, A Pérez-Aisa, D Nicolás-Pérez, E Hijona, J Espinel, R Campo, M Manzano, F Geijo, M Pellise, M Zaballa, F González-Huix, J Espinós, L Titó, L Barranco, M D'Amato, MA García-González
Publication Date: 2017-05-30

Variant appearance in text: rs3219489
PubMed Link: 28415781
Variant Present in the following documents:
  • oncotarget-08-35848-s004.doc
  • oncotarget-08-35848-s007.doc
  • oncotarget-08-35848-s008.doc
  • oncotarget-08-35848-s009.doc
  • oncotarget-08-35848-s010.doc
View BVdb publication page



Interactions between dietary acrylamide intake and genes for ovarian cancer risk.

European Journal Of Epidemiology
JGF Hogervorst, PA van den Brandt, RWL Godschalk, FJ van Schooten, LJ Schouten
Publication Date: 2017-05

Variant appearance in text: rs3219489
PubMed Link: 28391539
Variant Present in the following documents:
  • 10654_2017_244_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis.

Bmc Musculoskeletal Disorders
SY Chen, HH Chen, YC Huang, SP Liu, YJ Lin, SF Lo, YY Chang, HW Lin, CM Huang, FJ Tsai
Publication Date: 2017-02-07

Variant appearance in text: rs3219489
PubMed Link: 28173856
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial adenomatous polyposis in China.

Oncology Letters
J Yang, QW Liu, LW Li, QZ Wang, M Hong, J Dong
Publication Date: 2016-12

Variant appearance in text: MUTYH: Q335H
PubMed Link: 28105195
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.

Plos One
TE Galesloot, N Verweij, M Traglia, C Barbieri, F van Dijk, AJ Geurts-Moespot, D Girelli, LA Kiemeney, FC Sweep, MA Swertz, P van der Meer, C Camaschella, D Toniolo, SH Vermeulen, P van der Harst, DW Swinkels
Publication Date: 2016

Variant appearance in text: rs3219489
PubMed Link: 27846281
Variant Present in the following documents:
  • pone.0166628.s009.xlsx
View BVdb publication page



The influence of single nucleotide polymorphisms on the association between dietary acrylamide intake and endometrial cancer risk.

Scientific Reports
JG Hogervorst, PA van den Brandt, RW Godschalk, FJ van Schooten, LJ Schouten
Publication Date: 2016-10-07

Variant appearance in text: rs3219489
PubMed Link: 27713515
Variant Present in the following documents:
  • Main text
  • srep34902-s1.doc
View BVdb publication page



Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.

Anticancer Research
M Kappil, MB Terry, L Delgado-Cruzata, Y Liao, RM Santella
Publication Date: 2016-09

Variant appearance in text: rs3219489
PubMed Link: 27630279
Variant Present in the following documents:
  • Main text
View BVdb publication page



TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.

Oncotarget
PN Gray, H Vuong, P Tsai, HM Lu, W Mu, V Hsuan, J Hoo, S Shah, L Uyeda, S Fox, H Patel, M Janicek, S Brown, L Dobrea, L Wagman, E Plimack, R Mehra, EA Golemis, M Bilusic, M Zibelman, A Elliott
Publication Date: 2016-10-18

Variant appearance in text: rs3219489
PubMed Link: 27626691
Variant Present in the following documents:
  • oncotarget-07-68206-s009.docx
  • oncotarget-07-68206-s010.docx
  • oncotarget-07-68206-s014.docx
View BVdb publication page



Gene-gene interactions in gastrointestinal cancer susceptibility.

Oncotarget
J Kim, S Yum, C Kang, SJ Kang
Publication Date: 2016-10-11

Variant appearance in text: rs3219489
PubMed Link: 27588484
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Journal Of Cancer
D Ray, D Kidane
Publication Date: 2016

Variant appearance in text: rs3219489
PubMed Link: 27471558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.

Oncology Letters
J Yang, WQ Liu, WL Li, C Chen, Z Zhu, M Hong, ZQ Wang, J Dong
Publication Date: 2016-07

Variant appearance in text: MUTYH: Q335H; rs3219489
PubMed Link: 27347161
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of Single Nucleotide Polymorphisms of Base Excision Repair Genes on DNA Damage and Efficiency of DNA Repair in Recurrent Depression Disorder.

Molecular Neurobiology
P Czarny, D Kwiatkowski, M Toma, J Kubiak, A Sliwinska, M Talarowska, J Szemraj, M Maes, P Galecki, T Sliwinski
Publication Date: 2017-08

Variant appearance in text: rs3219489
PubMed Link: 27324896
Variant Present in the following documents:
  • 12035_2016_9971_MOESM1_ESM.docx
  • 12035_2016_9971_MOESM10_ESM.docx
  • 12035_2016_9971_MOESM2_ESM.docx
  • 12035_2016_9971_MOESM3_ESM.docx
  • 12035_2016_9971_MOESM4_ESM.docx
  • 12035_2016_9971_MOESM5_ESM.docx
  • 12035_2016_9971_MOESM6_ESM.docx
  • 12035_2016_9971_MOESM7_ESM.docx
  • 12035_2016_9971_MOESM8_ESM.docx
  • 12035_2016_9971_MOESM9_ESM.docx
  • aaaaaMain text
View BVdb publication page



Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.

Scientific Reports
K Yamaguchi, S Nagayama, E Shimizu, M Komura, R Yamaguchi, T Shibuya, M Arai, S Hatakeyama, T Ikenoue, M Ueno, S Miyano, S Imoto, Y Furukawa
Publication Date: 2016-05-24

Variant appearance in text: rs3219489
PubMed Link: 27217144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Re-evaluation of the WHO (2010) formaldehyde indoor air quality guideline for cancer risk assessment.

Archives Of Toxicology
GD Nielsen, ST Larsen, P Wolkoff
Publication Date: 2017-01

Variant appearance in text: rs3219489
PubMed Link: 27209488
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome instability in Alzheimer disease.

Mechanisms Of Ageing And Development
Y Hou, H Song, DL Croteau, M Akbari, VA Bohr
Publication Date: 2017-01

Variant appearance in text: rs3219489
PubMed Link: 27105872
Variant Present in the following documents:
  • Main text
View BVdb publication page



Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.

Human Genome Variation
T Ikenoue, K Yamaguchi, M Komura, S Imoto, R Yamaguchi, E Shimizu, S Kasuya, T Shibuya, S Hatakeyama, S Miyano, Y Furukawa
Publication Date: 2015

Variant appearance in text: rs3219489
PubMed Link: 27081525
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

World Journal Of Gastroenterology
YC Chang, JG Chang, TC Liu, CY Lin, SF Yang, CM Ho, WT Chen, YS Chang
Publication Date: 2016-02-21

Variant appearance in text: rs3219489
PubMed Link: 26900293
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and keratoconus in a Polish subpopulation.

Archives Of Medical Science : Ams
E Synowiec, KA Wójcik, A Czubatka, P Polakowski, J Izdebska, J Szaflik, J Błasiak, JP Szaflik
Publication Date: 2015-10-12

Variant appearance in text: rs3219489
PubMed Link: 26528356
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.

Journal Of Experimental & Clinical Cancer Research : Cr
GM Aceto, F Fantini, S De Iure, M Di Nicola, G Palka, R Valanzano, P Di Gregorio, V Stigliano, M Genuardi, P Battista, A Cama, MC Curia
Publication Date: 2015-10-28

Variant appearance in text: rs3219489
PubMed Link: 26511139
Variant Present in the following documents:
  • Main text
View BVdb publication page



MUTYH Gene Polymorphisms as Risk Factors for Rheumatoid Arthritis.

Biomed Research International
YJ Kung, KS Tsai, CM Huang, HJ Lin, TH Chen, YA Hsu, CY Chang, YS Huang, L Wan
Publication Date: 2015

Variant appearance in text: rs3219489
PubMed Link: 26273655
Variant Present in the following documents:
  • Main text
View BVdb publication page



Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Genome Medicine
A Patwardhan, J Harris, N Leng, G Bartha, DM Church, S Luo, C Haudenschild, M Pratt, J Zook, M Salit, J Tirch, M Morra, S Chervitz, M Li, M Clark, S Garcia, G Chandratillake, S Kirk, E Ashley, M Snyder, R Altman, C Bustamante, AJ Butte, J West, R Chen
Publication Date: 2015

Variant appearance in text: rs3219489
PubMed Link: 26269718
Variant Present in the following documents:
  • 13073_2015_197_MOESM8_ESM.xlsx
View BVdb publication page



Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Nature Communications
E Schulz, P Klampfl, S Holzapfel, AR Janecke, P Ulz, W Renner, K Kashofer, S Nojima, A Leitner, A Zebisch, A Wölfler, S Hofer, A Gerger, S Lax, C Beham-Schmid, V Steinke, E Heitzer, JB Geigl, C Windpassinger, G Hoefler, MR Speicher, CR Boland, A Kumanogoh, H Sill
Publication Date: 2014-10-13

Variant appearance in text: rs3219489
PubMed Link: 25307848
Variant Present in the following documents:
  • ncomms6191-s1.pdf
View BVdb publication page



Analysis of BRCA2 loss of heterozygosity in tumor tissue using droplet digital polymerase chain reaction.

Human Pathology
RL Cochran, K Cravero, D Chu, B Erlanger, PV Toro, JA Beaver, DJ Zabransky, HY Wong, J Cidado, S Croessmann, H Parsons, M Kim, SJ Wheelan, P Argani, B Ho Park
Publication Date: 2014-07

Variant appearance in text: rs3219489
PubMed Link: 24824029
Variant Present in the following documents:
  • NIHMS585859-supplement-02.xlsx
View BVdb publication page



Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

Oxidative Medicine And Cellular Longevity
K Shinmura, M Goto, H Tao, H Kato, R Suzuki, S Nakamura, T Matsuda, G Yin, M Morita, S Kono, H Sugimura
Publication Date: 2014

Variant appearance in text: rs3219489
PubMed Link: 24799981
Variant Present in the following documents:
  • Main text
View BVdb publication page



A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.

Nature Genetics
S Kohsaka, N Shukla, N Ameur, T Ito, CK Ng, L Wang, D Lim, A Marchetti, A Viale, M Pirun, ND Socci, LX Qin, R Sciot, J Bridge, S Singer, P Meyers, LH Wexler, FG Barr, S Dogan, JA Fletcher, JS Reis-Filho, M Ladanyi
Publication Date: 2014-06

Variant appearance in text: rs3219489
PubMed Link: 24793135
Variant Present in the following documents:
  • NIHMS635209-supplement-Table_3.xlsx
View BVdb publication page



DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Plos Genetics
A Osorio, RL Milne, K Kuchenbaecker, T Vaclová, G Pita, R Alonso, P Peterlongo, I Blanco, M de la Hoya, M Duran, O Díez, T Ramón Y Cajal, I Konstantopoulou, C Martínez-Bouzas, R Andrés Conejero, P Soucy, L McGuffog, D Barrowdale, A Lee, , B Arver, J Rantala, N Loman, H Ehrencrona, OI Olopade, MS Beattie, SM Domchek, K Nathanson, TR Rebbeck, BK Arun, BY Karlan, C Walsh, J Lester, EM John, AS Whittemore, MB Daly, M Southey, J Hopper, MB Terry, SS Buys, R Janavicius, CM Dorfling, EJ van Rensburg, L Steele, SL Neuhausen, YC Ding, TV Hansen, L Jønson, B Ejlertsen, AM Gerdes, M Infante, B Herráez, LT Moreno, JN Weitzel, J Herzog, K Weeman, S Manoukian, B Peissel, D Zaffaroni, G Scuvera, B Bonanni, F Mariette, S Volorio, A Viel, L Varesco, L Papi, L Ottini, MG Tibiletti, P Radice, D Yannoukakos, J Garber, S Ellis, D Frost, R Platte, E Fineberg, G Evans, F Lalloo, L Izatt, R Eeles, J Adlard, R Davidson, T Cole, D Eccles, J Cook, S Hodgson, C Brewer, M Tischkowitz, F Douglas, M Porteous, L Side, L Walker, P Morrison, A Donaldson, J Kennedy, C Foo, AK Godwin, RK Schmutzler, B Wappenschmidt, K Rhiem, C Engel, A Meindl, N Ditsch, N Arnold, HJ Plendl, D Niederacher, C Sutter, S Wang-Gohrke, D Steinemann, S Preisler-Adams, K Kast, R Varon-Mateeva, A Gehrig, D Stoppa-Lyonnet, OM Sinilnikova, S Mazoyer, F Damiola, B Poppe, K Claes, M Piedmonte, K Tucker, F Backes, G Rodríguez, W Brewster, K Wakeley, T Rutherford, T Caldés, H Nevanlinna, K Aittomäki, MA Rookus, TA van Os, L van der Kolk, JL de Lange, HE Meijers-Heijboer, AH van der Hout, CJ van Asperen, EB Gómez Garcia, N Hoogerbrugge, JM Collée, CH van Deurzen, RB van der Luijt, P Devilee, , E Olah, C Lázaro, A Teulé, M Menéndez, A Jakubowska, C Cybulski, J Gronwald, J Lubinski, K Durda, K Jaworska-Bieniek, OT Johannsson, C Maugard, M Montagna, S Tognazzo, MR Teixeira, S Healey, , C Olswold, L Guidugli, N Lindor, S Slager, CI Szabo, J Vijai, M Robson, N Kauff, L Zhang, R Rau-Murthy, A Fink-Retter, CF Singer, C Rappaport, D Geschwantler Kaulich, G Pfeiler, MK Tea, A Berger, CM Phelan, MH Greene, PL Mai, F Lejbkowicz, I Andrulis, AM Mulligan, G Glendon, AE Toland, A Bojesen, IS Pedersen, L Sunde, M Thomassen, TA Kruse, UB Jensen, E Friedman, Y Laitman, SP Shimon, J Simard, DF Easton, K Offit, FJ Couch, G Chenevix-Trench, AC Antoniou, J Benitez
Publication Date: 2014-04

Variant appearance in text: rs3219489
PubMed Link: 24698998
Variant Present in the following documents:
  • pgen.1004256.s002.xls
View BVdb publication page



Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
JA O'Rawe, H Fang, S Rynearson, R Robison, ES Kiruluta, G Higgins, K Eilbeck, MG Reese, GJ Lyon
Publication Date: 2013

Variant appearance in text: rs3219489
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s015.xlsx
View BVdb publication page



Oxidative stress and nucleic acid oxidation in patients with chronic kidney disease.

Oxidative Medicine And Cellular Longevity
CC Sung, YC Hsu, CC Chen, YF Lin, CC Wu
Publication Date: 2013

Variant appearance in text: rs3219489
PubMed Link: 24058721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.

Plos One
S Picelli, J Lorenzo Bermejo, J Chang-Claude, M Hoffmeister, C Fernández-Rozadilla, A Carracedo, A Castells, S Castellví-Bel, , A Naccarati, B Pardini, L Vodickova, H Müller, BA Talseth-Palmer, G Stibbard, P Peterlongo, C Nici, S Veneroni, L Li, G Casey, A Tenesa, SM Farrington, I Tomlinson, V Moreno, T van Wezel, J Wijnen, M Dunlop, P Radice, RJ Scott, P Vodicka, C Ruiz-Ponte, H Brenner, S Buch, H Völzke, J Hampe, C Schafmayer, A Lindblom
Publication Date: 2013

Variant appearance in text: rs3219489
PubMed Link: 24039736
Variant Present in the following documents:
  • Main text
  • pone.0072091.s001.doc
  • pone.0072091.s002.doc
View BVdb publication page



Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

Gut
X Ma, B Zhang, W Zheng
Publication Date: 2014-02

Variant appearance in text: rs3219489
PubMed Link: 23946381
Variant Present in the following documents:
  • NIHMS535098-supplement-Webappendix.pdf
View BVdb publication page



DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

International Journal Of Molecular Epidemiology And Genetics
JA Doherty, LC Sakoda, MM Loomis, MJ Barnett, L Julianto, MD Thornquist, ML Neuhouser, NS Weiss, GE Goodman, C Chen
Publication Date: 2013

Variant appearance in text: rs3219489
PubMed Link: 23565320
Variant Present in the following documents:
  • Main text
View BVdb publication page



XRCC3 gene polymorphism is associated with survival in Japanese lung cancer patients.

International Journal Of Molecular Sciences
K Osawa, C Nakarai, K Uchino, M Yoshimura, N Tsubota, J Takahashi, Y Kido
Publication Date: 2012-12-05

Variant appearance in text: rs3219489
PubMed Link: 23443124
Variant Present in the following documents:
  • Main text
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Genetic variability in DNA repair proteins in age-related macular degeneration.

International Journal Of Molecular Sciences
J Blasiak, E Synowiec, A Salminen, K Kaarniranta
Publication Date: 2012-10-18

Variant appearance in text: rs3219489
PubMed Link: 23202958
Variant Present in the following documents:
  • Main text
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Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.

Carcinogenesis
AG Raetz, Y Xie, S Kundu, MK Brinkmeyer, C Chang, SS David
Publication Date: 2012-11

Variant appearance in text: rs3219489
PubMed Link: 22926731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of base excision repair gene polymorphisms with ESRD risk in a Chinese population.

Oxidative Medicine And Cellular Longevity
Z Cai, H Chen, J Tao, W Guo, X Liu, B Zheng, W Sun, Y Wang
Publication Date: 2012

Variant appearance in text: rs3219489
PubMed Link: 22720119
Variant Present in the following documents:
  • Main text
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Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

American Journal Of Human Genetics
JJ Johnston, WS Rubinstein, FM Facio, D Ng, LN Singh, JK Teer, JC Mullikin, LG Biesecker
Publication Date: 2012-07-13

Variant appearance in text: rs3219489
PubMed Link: 22703879
Variant Present in the following documents:
  • mmc1.pdf
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Detailed analysis of Japanese population substructure with a focus on the southwest islands of Japan.

Plos One
T Nishiyama, H Kishino, S Suzuki, R Ando, H Niimura, H Uemura, M Horita, K Ohnaka, N Kuriyama, H Mikami, N Takashima, K Mastuo, Y Guang, K Wakai, N Hamajima, H Tanaka,
Publication Date: 2012

Variant appearance in text: rs3219489
PubMed Link: 22509376
Variant Present in the following documents:
  • pone.0035000.s006.doc
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MUTYH gene variants and breast cancer in a Dutch case–control study.

Breast Cancer Research And Treatment
AA Out, M Wasielewski, PE Huijts, IJ van Minderhout, JJ Houwing-Duistermaat, CM Tops, M Nielsen, C Seynaeve, JT Wijnen, MH Breuning, CJ van Asperen, M Schutte, FJ Hes, P Devilee
Publication Date: 2012-07

Variant appearance in text: rs3219489
PubMed Link: 22297469
Variant Present in the following documents:
  • Main text
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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research
W Wang, P Shen, S Thiyagarajan, S Lin, C Palm, R Horvath, T Klopstock, D Cutler, L Pique, I Schrijver, RW Davis, M Mindrinos, TP Speed, C Scharfe
Publication Date: 2011-01

Variant appearance in text: rs3219489
PubMed Link: 20843780
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study.

Cancer Causes & Control : Ccc
I Agalliu, EM Kwon, CA Salinas, JS Koopmeiners, EA Ostrander, JL Stanford
Publication Date: 2010-02

Variant appearance in text: rs3219489
PubMed Link: 19902366
Variant Present in the following documents:
  • Main text
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Analysis of candidate genes in occurrence and growth of colorectal adenomas.

Journal Of Oncology
S Olschwang, D Vernerey, V Cottet, A Pariente, B Nalet, J Lafon, J Faivre, P Laurent-Puig, C Bonithon-Kopp, C Bonaiti-Pellié
Publication Date: 2009

Variant appearance in text: rs3219489
PubMed Link: 19888426
Variant Present in the following documents:
  • Main text
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Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.

Bmc Cancer
J Conde, SN Silva, AP Azevedo, V Teixeira, JE Pina, J Rueff, JF Gaspar
Publication Date: 2009-09-25

Variant appearance in text: rs3219489
PubMed Link: 19781088
Variant Present in the following documents:
  • Main text
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Recurring mutations found by sequencing an acute myeloid leukemia genome.

The New England Journal Of Medicine
ER Mardis, L Ding, DJ Dooling, DE Larson, MD McLellan, K Chen, DC Koboldt, RS Fulton, KD Delehaunty, SD McGrath, LA Fulton, DP Locke, VJ Magrini, RM Abbott, TL Vickery, JS Reed, JS Robinson, T Wylie, SM Smith, L Carmichael, JM Eldred, CC Harris, J Walker, JB Peck, F Du, AF Dukes, GE Sanderson, AM Brummett, E Clark, JF McMichael, RJ Meyer, JK Schindler, CS Pohl, JW Wallis, X Shi, L Lin, H Schmidt, Y Tang, C Haipek, ME Wiechert, JV Ivy, J Kalicki, G Elliott, RE Ries, JE Payton, P Westervelt, MH Tomasson, MA Watson, J Baty, S Heath, WD Shannon, R Nagarajan, DC Link, MJ Walter, TA Graubert, JF DiPersio, RK Wilson, TJ Ley
Publication Date: 2009-09-10

Variant appearance in text: MUTYH: Q335H; rs3219489
PubMed Link: 19657110
Variant Present in the following documents:
  • NIHMS320783-supplement-supp_app.pdf
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Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

British Journal Of Cancer
DM Kweekel, NF Antonini, JW Nortier, CJ Punt, H Gelderblom, HJ Guchelaar
Publication Date: 2009-07-21

Variant appearance in text: rs3219489
PubMed Link: 19536092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma.

Carcinogenesis
M Forsbring, ES Vik, B Dalhus, TH Karlsen, A Bergquist, E Schrumpf, M Bjørås, KM Boberg, I Alseth
Publication Date: 2009-07

Variant appearance in text: rs3219489
PubMed Link: 19443904
Variant Present in the following documents:
  • Main text
View BVdb publication page



MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population.

Journal Of Experimental & Clinical Cancer Research : Cr
A Miyaishi, K Osawa, Y Osawa, N Inoue, K Yoshida, M Kasahara, A Tsutou, Y Tabuchi, K Sakamoto, N Tsubota, J Takahashi
Publication Date: 2009-01-22

Variant appearance in text: rs3219489
PubMed Link: 19161591
Variant Present in the following documents:
  • Main text
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Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.

Journal Of Experimental & Clinical Cancer Research : Cr
M Kasahara, K Osawa, K Yoshida, A Miyaishi, Y Osawa, N Inoue, A Tsutou, Y Tabuchi, K Tanaka, M Yamamoto, E Shimada, J Takahashi
Publication Date: 2008-09-30

Variant appearance in text: rs3219489
PubMed Link: 18823566
Variant Present in the following documents:
  • Main text
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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Z Dai, AC Papp, D Wang, H Hampel, W Sadee
Publication Date: 2008-06-11

Variant appearance in text: rs3219489
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls
  • aaaaaMain text
View BVdb publication page



Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

American Journal Of Human Genetics
X Wu, J Gu, HB Grossman, CI Amos, C Etzel, M Huang, Q Zhang, RE Millikan, S Lerner, CP Dinney, MR Spitz
Publication Date: 2006-03

Variant appearance in text: rs3219489
PubMed Link: 16465622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.933G>C p.Gln311His missense_variant 12/16 -
ENST00000355498.2 c.930G>C p.Gln310His missense_variant 12/16 -
ENST00000372098.3 c.1005G>C p.Gln335His missense_variant 12/16 -
ENST00000372100.5 c.963G>C p.Gln321His missense_variant 12/16 -
ENST00000372104.1 c.930G>C p.Gln310His missense_variant 13/17 -
ENST00000372110.3 c.975G>C p.Gln325His missense_variant 12/16 -
ENST00000372115.3 c.972G>C p.Gln324His missense_variant 12/16 -
ENST00000412971.1 c.546G>C p.Gln182His missense_variant 7/7 -
ENST00000448481.1 c.963G>C p.Gln321His missense_variant 12/16 -
ENST00000450313.1 c.1014G>C p.Gln338His missense_variant 12/16 -
ENST00000456914.2 c.930G>C p.Gln310His missense_variant 12/16 -
ENST00000462388.1 n.794G>C - non_coding_transcript_exon_variant 5/5 -
ENST00000466231.1 n.295G>C - non_coding_transcript_exon_variant 3/3 -
ENST00000467459.1 c.347G>C p.Ser116Thr missense_variant,NMD_transcript_variant 4/8 -
ENST00000475516.1 c.*743G>C - 3_prime_UTR_variant,NMD_transcript_variant 12/16 -
ENST00000481571.1 c.*743G>C - 3_prime_UTR_variant,NMD_transcript_variant 12/16 -
ENST00000482094.1 n.251G>C - non_coding_transcript_exon_variant 1/5 -
ENST00000488731.2 c.188-277G>C - intron_variant - 3/6
ENST00000528013.2 c.972G>C p.Gln324His missense_variant 12/16 -
ENST00000528332.2 c.230-277G>C - intron_variant - 3/6
ENST00000529892.1 c.177+190G>C - intron_variant - 2/5
ENST00000529984.1 c.188-277G>C - intron_variant - 3/6
ENST00000531105.1 c.116-2396G>C - intron_variant - 2/2
ENST00000533178.1 c.*259G>C - 3_prime_UTR_variant,NMD_transcript_variant 6/10 -
NM_001048171.1 c.972G>C p.Gln324His missense_variant 12/16 -
NM_001048172.1 c.933G>C p.Gln311His missense_variant 12/16 -
NM_001048173.1 c.930G>C p.Gln310His missense_variant 12/16 -
NM_001048174.1 c.930G>C p.Gln310His missense_variant 12/16 -
NM_001128425.1 c.1014G>C p.Gln338His missense_variant 12/16 -
NM_001293190.1 c.975G>C p.Gln325His missense_variant 12/16 -
NM_001293191.1 c.963G>C p.Gln321His missense_variant 12/16 -
NM_001293192.1 c.654G>C p.Gln218His missense_variant 12/16 -
NM_001293195.1 c.930G>C p.Gln310His missense_variant 13/17 -
NM_001293196.1 c.654G>C p.Gln218His missense_variant 12/16 -
NM_001350650.1 c.585G>C p.Gln195His missense_variant 11/15 -
NM_001350651.1 c.585G>C p.Gln195His missense_variant 11/15 -
NM_012222.2 c.1005G>C p.Gln335His missense_variant 12/16 -
NR_146882.1 n.1188G>C - non_coding_transcript_exon_variant 12/17 -
NR_146883.1 n.1002G>C - non_coding_transcript_exon_variant 11/16 -