ERCC1 c.321+74C>G

Variant ID: 19-45924362-G-C

NM_001983.3(ERCC1):c.321+74C>G

This variant was identified in 32 publications

View GRCh38 version.




Publications:


The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis.

Frontiers In Oncology
Zhang, Lu L; Pozsgai, Éva É; Song, Yongan Y; Macharia, John J; Alfatafta, Huda H; Zheng, Jia J; Li, Zhaoyi Z; Liu, Hongbo H; Kiss, István I
Publication Date: 2023

Variant appearance in text: rs3212948
PubMed Link: 36874118
Variant Present in the following documents:
  • Main text
  • fonc-13-1094309.pdf
View BVdb publication page



Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology
Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H
Publication Date: 2022

Variant appearance in text: rs3212948
PubMed Link: 36632298
Variant Present in the following documents:
  • rpor-27-6-1058.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3212948
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: ERCC1: 321+74C>G; rs3212948
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology
Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M
Publication Date: 2022

Variant appearance in text: rs3212948
PubMed Link: 35112701
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20210172-s4.pdf
View BVdb publication page



Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology
Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M
Publication Date: 2022

Variant appearance in text: rs3212948
PubMed Link: 35112701
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20210172-s4.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ERCC1: 321+74C>G; rs3212948
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic Polymorphisms and the Efficacy of Platinum-Based Chemotherapy: Review.

Pharmacogenomics And Personalized Medicine
Afifah, Nadiya Nurul NN; Diantini, Ajeng A; Intania, Ruri R; Abdulah, Rizky R; Barliana, Melisa I MI
Publication Date: 2020

Variant appearance in text: rs3212948
PubMed Link: 33116759
Variant Present in the following documents:
  • Main text
  • pgpm-13-427.pdf
View BVdb publication page



Expression and Genetic Polymorphisms of ERCC1 in Chinese Han Patients with Oral Squamous Cell Carcinoma.

Biomed Research International
Wang, Chaokui C; Gan, Ning N; Liu, Ping P; Chen, Hongying H; Li, Yong Y; Li, Xian X
Publication Date: 2020

Variant appearance in text: rs3212948
PubMed Link: 33029487
Variant Present in the following documents:
  • Main text
  • BMRI2020-1207809.pdf
View BVdb publication page



The role of ERCC1 and AFP gene polymorphism in hepatocellular carcinoma.

Medicine
Huang, Yu-Liang YL; Wu, Jun-Rong JR; Fang, Min M; Zhao, Hui-Liu HL; Liu, Zhi-Min ZM; Ye, Jian J; Huang, Ling-Sha LS; Zhu, Bo B
Publication Date: 2019-04

Variant appearance in text: rs3212948
PubMed Link: 30946366
Variant Present in the following documents:
  • Main text
View BVdb publication page



The influence of genetic variability of DNA repair mechanisms on the risk of malignant mesothelioma.

Radiology And Oncology
Levpuscek, Kristina K; Goricar, Katja K; Kovac, Viljem V; Dolzan, Vita V; Franko, Alenka A
Publication Date: 2019-03-14

Variant appearance in text: rs3212948
PubMed Link: 30893058
Variant Present in the following documents:
  • Main text
  • raon-53-206.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ERCC1: 321+74C>G; rs3212948
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs3212948
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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
Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y
Publication Date: 2017-08-21

Variant appearance in text: rs3212948
PubMed Link: 28827732
Variant Present in the following documents:
  • 41598_2017_7737_MOESM1_ESM.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs3212948
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs3212948
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs3212948
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Use a survival model to correlate single-nucleotide polymorphisms of DNA repair genes with radiation dose-response in patients with non-small cell lung cancer.

Radiotherapy And Oncology : Journal Of The European Society For Therapeutic Radiology And Oncology
Jin, Jian-Yue JY; Wang, Weili W; Ten Haken, Randall K RK; Chen, Jie J; Bi, Nan N; Sadek, Ramses R; Zhang, Hong H; Lawrence, Theodore S TS; Kong, Feng-Ming Spring FM
Publication Date: 2015-10

Variant appearance in text: rs3212948
PubMed Link: 26253951
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional intronic ERCC1 polymorphism from regulomeDB can predict survival in lung cancer after surgery.

Oncotarget
Lee, Shin Yup SY; Hong, Mi Jeong MJ; Jeon, Hyo-Sung HS; Choi, Yi Young YY; Choi, Jin Eun JE; Kang, Hyo-Gyoung HG; Jung, Deuk Kju DK; Jin, Chengcheng C; Do, Sook Kyung SK; Yoo, Seung Soo SS; Seok, Yangki Y; Lee, Eung Bae EB; Shin, Kyung Min KM; Jeong, Ji Yun JY; Lee, Won Kee WK; Lee, Jaehee J; Cha, Seung Ick SI; Kim, Chang Ho CH; Kim, Young Tae YT; Jheon, Sanghoon S; Park, Jae Yong JY
Publication Date: 2015-09-15

Variant appearance in text: rs3212948
PubMed Link: 26056042
Variant Present in the following documents:
  • Main text
  • oncotarget-06-24522.pdf
View BVdb publication page



Genetic variation affects congenital heart defect susceptibility in offspring exposed to maternal tobacco use.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Tang, Xinyu X; Hobbs, Charlotte A CA; Cleves, Mario A MA; Erickson, Stephen W SW; MacLeod, Stewart L SL; Malik, Sadia S; ,
Publication Date: 2015-10

Variant appearance in text: rs3212948
PubMed Link: 26033827
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association studies of ERCC1 polymorphisms with lung cancer susceptibility: a systematic review and meta-analysis.

Plos One
Zhu, Jinhong J; Hua, Rui-Xi RX; Jiang, Jing J; Zhao, Li-Qin LQ; Sun, Xiuwei X; Luan, Jinwei J; Lang, Yaoguo Y; Sun, Yanqi Y; Shang, Kun K; Peng, Shiyun S; Ma, Jianqun J
Publication Date: 2014

Variant appearance in text: rs3212948
PubMed Link: 24841208
Variant Present in the following documents:
  • Main text
  • pone.0097616.pdf
View BVdb publication page



Single nucleotide polymorphisms in nucleotide excision repair genes, cancer treatment, and head and neck cancer survival.

Cancer Causes & Control : Ccc
Wyss, Annah B AB; Weissler, Mark C MC; Avery, Christy L CL; Herring, Amy H AH; Bensen, Jeannette T JT; Barnholtz-Sloan, Jill S JS; Funkhouser, William K WK; Olshan, Andrew F AF
Publication Date: 2014-04

Variant appearance in text: rs3212948
PubMed Link: 24487794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single-nucleotide polymorphisms in nucleotide excision repair genes, cigarette smoking, and the risk of head and neck cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wyss, Annah B AB; Herring, Amy H AH; Avery, Christy L CL; Weissler, Mark C MC; Bensen, Jeannette T JT; Barnholtz-Sloan, Jill S JS; Funkhouser, William K WK; Olshan, Andrew F AF
Publication Date: 2013-08

Variant appearance in text: rs3212948
PubMed Link: 23720401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Are race-specific ERCC1 haplotypes in melanoma cases versus controls related to the predictive and prognostic value of ERCC1 N118N?

Bmj Open
Gao, Rui R; Reece, Kelie M KM; Sissung, Tristan T; Fu, Samuel H SH; Venzon, David J DJ; Reed, Eddie E; Spencer, Shawn D SD; Price, Douglas K DK; Figg, William D WD
Publication Date: 2013-01-03

Variant appearance in text: rs3212948
PubMed Link: 23293248
Variant Present in the following documents:
  • Main text
View BVdb publication page



ERCC1 and XRCC1 as biomarkers for lung and head and neck cancer.

Pharmacogenomics And Personalized Medicine
Vaezi, Alec A; Feldman, Chelsea H CH; Niedernhofer, Laura J LJ
Publication Date: 2011

Variant appearance in text: rs3212948
PubMed Link: 23226053
Variant Present in the following documents:
  • Main text
  • pgpm-4-047.pdf
View BVdb publication page



Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

International Journal Of Cancer
Etemadi, Arash A; Islami, Farhad F; Phillips, David H DH; Godschalk, Roger R; Golozar, Asieh A; Kamangar, Farin F; Malekshah, Akbar Fazel-Tabar AF; Pourshams, Akram A; Elahi, Seerat S; Ghojaghi, Farhad F; Strickland, Paul T PT; Taylor, Philip R PR; Boffetta, Paolo P; Abnet, Christian C CC; Dawsey, Sanford M SM; Malekzadeh, Reza R; van Schooten, Frederik J FJ
Publication Date: 2013-06-15

Variant appearance in text: rs3212948
PubMed Link: 23175176
Variant Present in the following documents:
  • Main text
View BVdb publication page



MAP3K7 and GSTZ1 are associated with human longevity: a two-stage case-control study using a multilocus genotyping.

Age (Dordrecht, Netherlands)
Di Cianni, Fausta F; Campa, Daniele D; Tallaro, Federica F; Rizzato, Cosmeri C; De Rango, Francesco F; Barale, Roberto R; Passarino, Giuseppe G; Canzian, Federico F; Gemignani, Federica F; Montesanto, Alberto A; Landi, Stefano S; Rose, Giuseppina G
Publication Date: 2013-08

Variant appearance in text: rs3212948
PubMed Link: 22576335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations and patient-reported quality of life among patients with lung cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Sloan, Jeff A JA; de Andrade, Mariza M; Decker, Paul P; Wampfler, Jason J; Oswold, Curtis C; Clark, Matthew M; Yang, Ping P
Publication Date: 2012-05-10

Variant appearance in text: rs3212948
PubMed Link: 22454423
Variant Present in the following documents:
  • Main text
View BVdb publication page



[Research progress of lung cancer on single nuleotide polymorphism].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
Hua, Feng F; Zhou, Qinghua Q
Publication Date: 2011-02

Variant appearance in text: rs3212948
PubMed Link: 21342648
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association studies of excision repair cross-complementation group 1 (ERCC1) haplotypes with lung and head and neck cancer risk in a Caucasian population.

Cancer Epidemiology
Jones, Nathan R NR; Spratt, Thomas E TE; Berg, Arthur S AS; Muscat, Joshua E JE; Lazarus, Philip P; Gallagher, Carla J CJ
Publication Date: 2011-04

Variant appearance in text: rs3212948
PubMed Link: 20863778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Plos One
Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS
Publication Date: 2010-08-18

Variant appearance in text: rs3212948
PubMed Link: 20805886
Variant Present in the following documents:
  • pone.0012260.s004.pdf
View BVdb publication page



Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy.

British Journal Of Cancer
Paré, L L; Marcuello, E E; Altés, A A; del Río, E E; Sedano, L L; Salazar, J J; Cortés, A A; Barnadas, A A; Baiget, M M
Publication Date: 2008-10-07

Variant appearance in text: rs3212948
PubMed Link: 18797464
Variant Present in the following documents:
  • Main text
  • 6604671a.pdf
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: rs3212948
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page