Variant ID: 1-45797760-T-C

NM_012222.2(MUTYH):c.925-2A>G

This variant was identified in 10 publications




Publications:


Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.

Annals Of Translational Medicine
GT Lang, JX Shi, L Huang, AY Cao, CH Zhang, CG Song, ZG Zhuang, X Hu, W Huang, ZM Shao
Publication Date: 2020-11

Variant appearance in text: rs77542170
PubMed Link: 33313162
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One
JW Lee, NKD Kim, SH Lee, HW Cho, Y Ma, HY Ju, KH Yoo, KW Sung, HH Koo, WY Park
Publication Date: 2019

Variant appearance in text: rs77542170
PubMed Link: 31747416
Variant Present in the following documents:
  • pone.0224227.s002.xlsx
View BVdb publication page



Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Cold Spring Harbor Molecular Case Studies
ML Thibodeau, EY Zhao, C Reisle, C Ch'ng, HL Wong, Y Shen, MR Jones, HJ Lim, S Young, C Cremin, E Pleasance, W Zhang, R Holt, P Eirew, J Karasinska, SE Kalloger, G Taylor, E Majounie, M Bonakdar, Z Zong, D Bleile, R Chiu, I Birol, K Gelmon, C Lohrisch, KL Mungall, AJ Mungall, R Moore, YP Ma, A Fok, S Yip, A Karsan, D Huntsman, DF Schaeffer, J Laskin, MA Marra, DJ Renouf, SJM Jones, KA Schrader
Publication Date: 2019-04

Variant appearance in text: rs77542170
PubMed Link: 30833417
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers.

International Journal Of Cancer
W Luo, P Tian, Y Wang, H Xu, L Chen, C Tang, Y Shu, S Zhang, Z Wang, J Zhang, L Zhang, L Jiang, L Liu, G Che, C Guo, H Zhang, J Wang, W Li
Publication Date: 2018-10-01

Variant appearance in text: rs77542170
PubMed Link: 29667179
Variant Present in the following documents:
  • IJC-143-1696-s009.pdf
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
MS DeRycke, S Gunawardena, JR Balcom, AM Pickart, LA Waltman, AJ French, S McDonnell, SM Riska, ZC Fogarty, MC Larson, S Middha, BW Eckloff, YW Asmann, MJ Ferber, RW Haile, S Gallinger, M Clendenning, C Rosty, AK Win, DD Buchanan, JL Hopper, PA Newcomb, L Le Marchand, EL Goode, NM Lindor, SN Thibodeau
Publication Date: 2017-09

Variant appearance in text: rs77542170
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx
View BVdb publication page



Generation and molecular characterization of pancreatic cancer patient-derived xenografts reveals their heterologous nature.

Oncotarget
J Jung, CH Lee, HS Seol, YS Choi, E Kim, EJ Lee, JK Rhee, SR Singh, ES Jun, B Han, SM Hong, SC Kim, S Chang
Publication Date: 2016-09-20

Variant appearance in text: rs77542170
PubMed Link: 27613834
Variant Present in the following documents:
  • oncotarget-07-62533-s002.docx
View BVdb publication page



Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

Variant appearance in text: rs77542170
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

Oncotarget
PH Lin, WH Kuo, AC Huang, YS Lu, CH Lin, SH Kuo, MY Wang, CY Liu, FT Cheng, MH Yeh, HY Li, YH Yang, YH Hsu, SC Fan, LY Li, SL Yu, KJ Chang, PL Chen, YH Ni, CS Huang
Publication Date: 2016-02-16

Variant appearance in text: rs77542170
PubMed Link: 26824983
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
E Olfson, CE Cottrell, NO Davidson, CA Gurnett, JW Heusel, NO Stitziel, LS Chen, S Hartz, R Nagarajan, NL Saccone, LJ Bierut
Publication Date: 2015

Variant appearance in text: rs77542170
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls
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: rs77542170
PubMed Link: 24799981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000456914.2 c.850-2A>G - splice_acceptor_variant - 10/15
ENST00000450313.1 c.934-2A>G - splice_acceptor_variant - 10/15
ENST00000354383.6 c.853-2A>G - splice_acceptor_variant - 10/15
ENST00000355498.2 c.850-2A>G - splice_acceptor_variant - 10/15
ENST00000372098.3 c.925-2A>G - splice_acceptor_variant - 10/15
ENST00000372100.5 c.883-2A>G - splice_acceptor_variant - 10/15
ENST00000372104.1 c.850-2A>G - splice_acceptor_variant - 11/16
ENST00000372110.3 c.895-2A>G - splice_acceptor_variant - 10/15
ENST00000372115.3 c.892-2A>G - splice_acceptor_variant - 10/15
ENST00000412971.1 c.466-2A>G - splice_acceptor_variant - 5/6
ENST00000448481.1 c.883-2A>G - splice_acceptor_variant - 10/15
ENST00000461495.1 c.*589-2A>G - splice_acceptor_variant,NMD_transcript_variant - 9/9
ENST00000462388.1 n.541-2A>G - splice_acceptor_variant,non_coding_transcript_variant - 4/4
ENST00000466231.1 n.215-2A>G - splice_acceptor_variant,non_coding_transcript_variant - 1/2
ENST00000467459.1 c.244-2A>G - splice_acceptor_variant,NMD_transcript_variant - 2/7
ENST00000470256.1 c.*179-2A>G - splice_acceptor_variant,NMD_transcript_variant - 8/8
ENST00000475516.1 c.*663-2A>G - splice_acceptor_variant,NMD_transcript_variant - 10/15
ENST00000481571.1 c.*663-2A>G - splice_acceptor_variant,NMD_transcript_variant - 10/15
ENST00000488731.2 c.188-532A>G - intron_variant - 3/6
ENST00000528013.2 c.892-2A>G - splice_acceptor_variant - 10/15
ENST00000528332.2 c.230-532A>G - intron_variant - 3/6
ENST00000529892.1 c.114-2A>G - splice_acceptor_variant - 1/5
ENST00000529984.1 c.188-532A>G - intron_variant - 3/6
ENST00000531105.1 c.115+2303A>G - intron_variant - 2/2
ENST00000533178.1 c.*179-2A>G - splice_acceptor_variant,NMD_transcript_variant - 4/9
NM_001048171.1 c.892-2A>G - splice_acceptor_variant - 10/15
NM_001048172.1 c.853-2A>G - splice_acceptor_variant - 10/15
NM_001048173.1 c.850-2A>G - splice_acceptor_variant - 10/15
NM_001048174.1 c.850-2A>G - splice_acceptor_variant - 10/15
NM_001128425.1 c.934-2A>G - splice_acceptor_variant - 10/15
NM_001293190.1 c.895-2A>G - splice_acceptor_variant - 10/15
NM_001293191.1 c.883-2A>G - splice_acceptor_variant - 10/15
NM_001293192.1 c.574-2A>G - splice_acceptor_variant - 10/15
NM_001293195.1 c.850-2A>G - splice_acceptor_variant - 11/16
NM_001293196.1 c.574-2A>G - splice_acceptor_variant - 10/15
NM_001350650.1 c.505-2A>G - splice_acceptor_variant - 9/14
NM_001350651.1 c.505-2A>G - splice_acceptor_variant - 9/14
NM_012222.2 c.925-2A>G - splice_acceptor_variant - 10/15
NR_146882.1 n.1108-2A>G - splice_acceptor_variant,non_coding_transcript_variant - 10/16
NR_146883.1 n.922-2A>G - splice_acceptor_variant,non_coding_transcript_variant - 9/15