Variant ID: 1-45800156-C-A

NM_012222.2(MUTYH):c.64G>T;(p.Val22Leu)

This variant was identified in 17 publications




Publications:


Drug screening approach combines epigenetic sensitization with immunochemotherapy in cancer.

Clinical Epigenetics
C Facciotto, J Casado, L Turunen, SK Leivonen, M Tumiati, V Rantanen, L Kauppi, R Lehtonen, S Leppä, K Wennerberg, S Hautaniemi
Publication Date: 2019-12-11

Variant appearance in text: rs3219484
PubMed Link: 31829282
Variant Present in the following documents:
  • 13148_2019_781_MOESM5_ESM.xlsx
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: rs3219484
PubMed Link: 31027119
Variant Present in the following documents:
  • medi-98-e15359.pdf
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: rs3219484
PubMed Link: 30098577
Variant Present in the following documents:
  • Main text
  • NIHMS984255-supplement-si.pdf
View BVdb publication page



The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget
AM Muscat, NC Wong, KJ Drummond, EM Algar, M Khasraw, R Verhaak, K Field, MA Rosenthal, DM Ashley
Publication Date: 2018-01-30

Variant appearance in text: rs3219484
PubMed Link: 29487696
Variant Present in the following documents:
  • oncotarget-09-7844-s003.xlsx
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: rs3219484
PubMed Link: 29458332
Variant Present in the following documents:
  • Main text
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: rs3219484
PubMed Link: 28749454
Variant Present in the following documents:
  • ctg201735x1.pdf
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: rs3219484
PubMed Link: 28415781
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

Plos One
JD Mosley, SL Van Driest, EK Larkin, PE Weeke, JS Witte, QS Wells, JH Karnes, Y Guo, L Bastarache, LM Olson, CA McCarty, JA Pacheco, GP Jarvik, DS Carrell, EB Larson, DR Crosslin, IJ Kullo, G Tromp, H Kuivaniemi, DJ Carey, MD Ritchie, JC Denny, DM Roden
Publication Date: 2013

Variant appearance in text: rs3219484
PubMed Link: 24349080
Variant Present in the following documents:
  • pone.0081503.s006.xlsx
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: rs3219484
PubMed Link: 24039736
Variant Present in the following documents:
  • pone.0072091.s002.doc
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: rs3219484
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: rs3219484
PubMed Link: 23565320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in the LEPR, CRY1, RNASEL, IL4, and ARVCF genes are prognostic markers of prostate cancer-specific mortality.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
DW Lin, LM FitzGerald, R Fu, EM Kwon, SL Zheng, S Kolb, F Wiklund, P Stattin, WB Isaacs, J Xu, EA Ostrander, Z Feng, H Grönberg, JL Stanford
Publication Date: 2011-09

Variant appearance in text: rs3219484
PubMed Link: 21846818
Variant Present in the following documents:
  • NIHMS311155-supplement-1.xls
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: rs3219484
PubMed Link: 19902366
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: rs3219484
PubMed Link: 19808960
Variant Present in the following documents:
  • NIHMS141004-supplement-1.xlsx
  • NIHMS141004-supplement-3.xlsx
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: rs3219484
PubMed Link: 19443904
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3219484
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls
View BVdb publication page



Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery.

Cancer Biology & Therapy
AC Tan, JB Fan, C Karikari, M Bibikova, EW Garcia, L Zhou, D Barker, D Serre, G Feldmann, RH Hruban, AP Klein, M Goggins, FJ Couch, TJ Hudson, RL Winslow, A Maitra, A Chakravarti
Publication Date: 2008-01

Variant appearance in text: rs3219484
PubMed Link: 18059179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.22G>T p.Val8Leu missense_variant 2/16 -
ENST00000355498.2 c.22G>T p.Val8Leu missense_variant 2/16 -
ENST00000372098.3 c.64G>T p.Val22Leu missense_variant 2/16 -
ENST00000372100.5 c.22G>T p.Val8Leu missense_variant 2/16 -
ENST00000372104.1 c.22G>T p.Val8Leu missense_variant 3/17 -
ENST00000372110.3 c.64G>T p.Val22Leu missense_variant 2/16 -
ENST00000372115.3 c.64G>T p.Val22Leu missense_variant 2/16 -
ENST00000412971.1 c.37-1650G>T - intron_variant - 1/6
ENST00000435155.1 c.22G>T p.Val8Leu missense_variant 2/10 -
ENST00000448481.1 c.22G>T p.Val8Leu missense_variant 2/16 -
ENST00000450313.1 c.64G>T p.Val22Leu missense_variant 2/16 -
ENST00000456914.2 c.22G>T p.Val8Leu missense_variant 2/16 -
ENST00000461495.1 c.64G>T p.Val22Leu missense_variant,NMD_transcript_variant 2/10 -
ENST00000462387.1 n.242G>T - non_coding_transcript_exon_variant 2/3 -
ENST00000467940.1 c.80G>T p.Arg27Leu missense_variant,NMD_transcript_variant 2/10 -
ENST00000470256.1 c.22G>T p.Val8Leu missense_variant,NMD_transcript_variant 2/9 -
ENST00000474703.1 n.144G>T - non_coding_transcript_exon_variant 2/5 -
ENST00000475516.1 c.22G>T p.Val8Leu missense_variant,NMD_transcript_variant 2/16 -
ENST00000476789.1 n.242G>T - non_coding_transcript_exon_variant 2/5 -
ENST00000479746.2 n.85G>T - non_coding_transcript_exon_variant 2/5 -
ENST00000481139.1 n.225G>T - non_coding_transcript_exon_variant 2/4 -
ENST00000481571.1 c.64G>T p.Val22Leu missense_variant,NMD_transcript_variant 2/16 -
ENST00000483127.1 c.40G>T p.Val14Leu missense_variant 3/4 -
ENST00000483642.1 n.203G>T - non_coding_transcript_exon_variant 2/5 -
ENST00000485484.1 n.72G>T - non_coding_transcript_exon_variant 2/5 -
ENST00000488731.2 c.22G>T p.Val8Leu missense_variant 2/7 -
ENST00000492494.1 n.85G>T - non_coding_transcript_exon_variant 2/5 -
ENST00000525160.1 c.64G>T p.Val22Leu missense_variant,NMD_transcript_variant 2/7 -
ENST00000528013.2 c.22G>T p.Val8Leu missense_variant 2/16 -
ENST00000528332.2 c.64G>T p.Val22Leu missense_variant 2/7 -
ENST00000529984.1 c.22G>T p.Val8Leu missense_variant 2/7 -
ENST00000531105.1 c.22G>T p.Val8Leu missense_variant 2/3 -
ENST00000533178.1 c.28G>T p.Val10Leu missense_variant,NMD_transcript_variant 1/10 -
ENST00000534453.1 n.288G>T - non_coding_transcript_exon_variant 2/2 -
NM_001048171.1 c.64G>T p.Val22Leu missense_variant 2/16 -
NM_001048172.1 c.22G>T p.Val8Leu missense_variant 2/16 -
NM_001048173.1 c.22G>T p.Val8Leu missense_variant 2/16 -
NM_001048174.1 c.22G>T p.Val8Leu missense_variant 2/16 -
NM_001128425.1 c.64G>T p.Val22Leu missense_variant 2/16 -
NM_001293190.1 c.64G>T p.Val22Leu missense_variant 2/16 -
NM_001293191.1 c.22G>T p.Val8Leu missense_variant 2/16 -
NM_001293192.1 c.-191G>T - 5_prime_UTR_variant 2/16 -
NM_001293195.1 c.22G>T p.Val8Leu missense_variant 3/17 -
NM_001293196.1 c.-191G>T - 5_prime_UTR_variant 2/16 -
NM_001350650.1 c.-250G>T - 5_prime_UTR_variant 2/15 -
NM_001350651.1 c.-186G>T - 5_prime_UTR_variant 2/15 -
NM_012222.2 c.64G>T p.Val22Leu missense_variant 2/16 -
NR_146882.1 n.280G>T - non_coding_transcript_exon_variant 2/17 -
NR_146883.1 n.168G>T - non_coding_transcript_exon_variant 2/16 -