Variant ID: 1-45798555-T-C

NM_012222.2(MUTYH):c.495+35A>G

This variant was identified in 16 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: rs3219487
PubMed Link: 32821650
Variant Present in the following documents:
  • Main text
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: rs3219487
PubMed Link: 31031852
Variant Present in the following documents:
  • Main text
View BVdb publication page



ESCC ATLAS: A population wide compendium of biomarkers for Esophageal Squamous Cell Carcinoma.

Scientific Reports
A Tungekar, S Mandarthi, PR Mandaviya, VP Gadekar, A Tantry, S Kotian, J Reddy, D Prabha, S Bhat, S Sahay, R Mascarenhas, RR Badkillaya, MK Nagasampige, M Yelnadu, H Pawar, P Hebbar, MK Kashyap
Publication Date: 2018-08-24

Variant appearance in text: rs3219487
PubMed Link: 30143675
Variant Present in the following documents:
  • 41598_2018_30579_MOESM2_ESM.xlsx
View BVdb publication page



DNArCdb: A database of cancer biomarkers in DNA repair genes that includes variants related to multiple cancer phenotypes.

Dna Repair
P Silvestrov, SJ Maier, M Fang, GA Cisneros
Publication Date: 2018-10

Variant appearance in text: rs3219487
PubMed Link: 30098577
Variant Present in the following documents:
  • NIHMS984255-supplement-si.pdf
View BVdb publication page



Host genetic variation in mucosal immunity pathways influences the upper airway microbiome.

Microbiome
C Igartua, ER Davenport, Y Gilad, DL Nicolae, J Pinto, C Ober
Publication Date: 2017-02-01

Variant appearance in text: rs3219487
PubMed Link: 28143570
Variant Present in the following documents:
  • 40168_2016_227_MOESM3_ESM.xlsx
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: rs3219487
PubMed Link: 27347161
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Chinese Journal Of Cancer
V Disciglio, A Devecchi, O Palumbo, M Carella, D Penso, M Milione, G Valle, MA Pierotti, M Vitellaro, L Bertario, S Canevari, S Signoroni, L De Cecco
Publication Date: 2016-06-07

Variant appearance in text: rs3219487
PubMed Link: 27267075
Variant Present in the following documents:
  • 40880_2016_115_MOESM1_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: rs3219487
PubMed Link: 25307848
Variant Present in the following documents:
  • ncomms6191-s1.pdf
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: rs3219487
PubMed Link: 24799981
Variant Present in the following documents:
  • Main text
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: rs3219487
PubMed Link: 24698998
Variant Present in the following documents:
  • pgen.1004256.s002.xls
View BVdb publication page



Genetic variation in the base excision repair pathway, environmental risk factors, and colorectal adenoma risk.

Plos One
R Corral, JP Lewinger, AD Joshi, AJ Levine, DJ Vandenberg, RW Haile, MC Stern
Publication Date: 2013

Variant appearance in text: rs3219487
PubMed Link: 23951112
Variant Present in the following documents:
  • pone.0071211.s001.xlsx
  • pone.0071211.s002.xlsx
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: rs3219487
PubMed Link: 23565320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population.

Carcinogenesis
WQ Li, N Hu, PL Hyland, Y Gao, ZM Wang, K Yu, H Su, CY Wang, LM Wang, SJ Chanock, L Burdett, T Ding, YL Qiao, JH Fan, Y Wang, Y Xu, JX Shi, F Gu, W Wheeler, XQ Xiong, C Giffen, MA Tucker, SM Dawsey, ND Freedman, CC Abnet, AM Goldstein, PR Taylor
Publication Date: 2013-07

Variant appearance in text: rs3219487
PubMed Link: 23504502
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guérin.

Plos One
H Wei, A Kamat, M Chen, HL Ke, DW Chang, J Yin, HB Grossman, CP Dinney, X Wu
Publication Date: 2012

Variant appearance in text: rs3219487
PubMed Link: 22701660
Variant Present in the following documents:
  • pone.0038533.s004.doc
View BVdb publication page



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: rs3219487
PubMed Link: 22297469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein E/C1 locus variants modify renal cell carcinoma risk.

Cancer Research
LE Moore, P Brennan, S Karami, I Menashe, SI Berndt, LM Dong, A Meisner, M Yeager, S Chanock, J Colt, K Schwartz, F Davis, D Zaridze, V Mattveev, V Janout, H Kollarova, V Bencko, M Navratilova, N Szeszenia-Dabrowska, D Mates, I Holcatova, P Boffetta, WH Chow, PS Rosenberg, N Rothman
Publication Date: 2009-10-15

Variant appearance in text: rs3219487
PubMed Link: 19808960
Variant Present in the following documents:
  • NIHMS141004-supplement-1.xlsx
  • NIHMS141004-supplement-3.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.423+35A>G - intron_variant - 6/15
ENST00000355498.2 c.420+35A>G - intron_variant - 6/15
ENST00000372098.3 c.495+35A>G - intron_variant - 6/15
ENST00000372100.5 c.453+35A>G - intron_variant - 6/15
ENST00000372104.1 c.420+35A>G - intron_variant - 7/16
ENST00000372110.3 c.465+35A>G - intron_variant - 6/15
ENST00000372115.3 c.462+35A>G - intron_variant - 6/15
ENST00000412971.1 c.37-49A>G - intron_variant - 1/6
ENST00000435155.1 c.453+35A>G - intron_variant - 6/9
ENST00000448481.1 c.453+35A>G - intron_variant - 6/15
ENST00000450313.1 c.504+35A>G - intron_variant - 6/15
ENST00000456914.2 c.420+35A>G - intron_variant - 6/15
ENST00000461495.1 c.*159+35A>G - intron_variant,NMD_transcript_variant - 5/9
ENST00000462387.1 n.777A>G - non_coding_transcript_exon_variant 3/3 -
ENST00000462388.1 n.63A>G - non_coding_transcript_exon_variant 1/5 -
ENST00000467940.1 c.*343+35A>G - intron_variant,NMD_transcript_variant - 6/9
ENST00000470256.1 c.308-49A>G - intron_variant,NMD_transcript_variant - 4/8
ENST00000475516.1 c.*233+35A>G - intron_variant,NMD_transcript_variant - 6/15
ENST00000476789.1 n.812A>G - non_coding_transcript_exon_variant 5/5 -
ENST00000478796.1 n.407+35A>G - intron_variant,non_coding_transcript_variant - 1/4
ENST00000479746.2 n.655A>G - non_coding_transcript_exon_variant 5/5 -
ENST00000481139.1 n.845A>G - non_coding_transcript_exon_variant 4/4 -
ENST00000481571.1 c.*233+35A>G - intron_variant,NMD_transcript_variant - 6/15
ENST00000483642.1 n.887A>G - non_coding_transcript_exon_variant 4/5 -
ENST00000485484.1 n.721+35A>G - intron_variant,non_coding_transcript_variant - 4/4
ENST00000488731.2 c.116-49A>G - intron_variant - 2/6
ENST00000492494.1 n.769A>G - non_coding_transcript_exon_variant 4/5 -
ENST00000525160.1 c.*71+35A>G - intron_variant,NMD_transcript_variant - 4/6
ENST00000528013.2 c.462+35A>G - intron_variant - 6/15
ENST00000528332.2 c.158-49A>G - intron_variant - 2/6
ENST00000529984.1 c.116-49A>G - intron_variant - 2/6
ENST00000531105.1 c.115+1508A>G - intron_variant - 2/2
ENST00000533178.1 c.122-196A>G - intron_variant,NMD_transcript_variant - 1/9
NM_001048171.1 c.462+35A>G - intron_variant - 6/15
NM_001048172.1 c.423+35A>G - intron_variant - 6/15
NM_001048173.1 c.420+35A>G - intron_variant - 6/15
NM_001048174.1 c.420+35A>G - intron_variant - 6/15
NM_001128425.1 c.504+35A>G - intron_variant - 6/15
NM_001293190.1 c.465+35A>G - intron_variant - 6/15
NM_001293191.1 c.453+35A>G - intron_variant - 6/15
NM_001293192.1 c.144+35A>G - intron_variant - 6/15
NM_001293195.1 c.420+35A>G - intron_variant - 7/16
NM_001293196.1 c.144+35A>G - intron_variant - 6/15
NM_001350650.1 c.75+35A>G - intron_variant - 5/14
NM_001350651.1 c.75+35A>G - intron_variant - 5/14
NM_012222.2 c.495+35A>G - intron_variant - 6/15
NR_146882.1 n.678+35A>G - intron_variant,non_coding_transcript_variant - 6/16
NR_146883.1 n.492+35A>G - intron_variant,non_coding_transcript_variant - 5/15