ERCC2 c.1238-1558G>T

Variant ID: 19-45862515-C-A

NM_000400.3(ERCC2):c.1238-1558G>T

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Genetic scores for predicting longevity in the Croatian oldest-old population.

Plos One
Šetinc, Maja M; Celinšćak, Željka Ž; Bočkor, Luka L; Ćorić, Tanja T; Kolarić, Branko B; Stojanović Marković, Anita A; Zajc Petranović, Matea M; Peričić Salihović, Marijana M; Smolej Narančić, Nina N; Škarić-Jurić, Tatjana T
Publication Date: 2023

Variant appearance in text: rs50871
PubMed Link: 36735720
Variant Present in the following documents:
  • Main text
  • pone.0279971.pdf
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Gene polymorphisms and prognosis 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: rs50871
PubMed Link: 36632296
Variant Present in the following documents:
  • rpor-27-6-1045.pdf
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Alteration of the Nucleotide Excision Repair (NER) Pathway in Soft Tissue Sarcoma.

International Journal Of Molecular Sciences
Pasqui, Adriano A; Boddi, Anna A; Campanacci, Domenico Andrea DA; Scoccianti, Guido G; Bernini, Andrea A; Grasso, Daniela D; Gambale, Elisabetta E; Scolari, Federico F; Palchetti, Ilaria I; Palomba, Annarita A; Fancelli, Sara S; Caliman, Enrico E; Antonuzzo, Lorenzo L; Pillozzi, Serena S
Publication Date: 2022-07-28

Variant appearance in text: rs50871
PubMed Link: 35955506
Variant Present in the following documents:
  • Main text
  • ijms-23-08360.pdf
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Genetic polymorphisms and haplotypes of ERCC1 and ERCC2 associated with quality of life, depression, and anxiety status among patients with lung cancer.

Bmc Cancer
Tang, Yunxiang Y; Zhang, Ruike R; Li, Yinan Y; Xu, Shuyu S; Wang, Hao H; Xu, Jingzhou J; Xiao, Lei L; Wang, Yajing Y; Du, Jing J; Huang, Yujia Y; Su, Tong T
Publication Date: 2021-07-21

Variant appearance in text: rs50871
PubMed Link: 34284736
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8570.pdf
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ERCC2 gene single-nucleotide polymorphism as a prognostic factor for locally advanced head and neck carcinomas after definitive cisplatin-based radiochemotherapy.

The Pharmacogenomics Journal
Guberina, Maja M; Sak, Ali A; Pöttgen, Christoph C; Tinhofer-Keilholz, Ingeborg I; Budach, Volker V; Balermpas, Panagiotis P; Von der Grün, Jens J; Rödel, Claus Michael CM; Gkika, Eleni E; Grosu, Anca-Ligia AL; Abdollahi, Amir A; Debus, Jürgen J; Belka, Claus C; Pigorsch, Steffi S; Combs, Stephani E SE; Mönnich, David D; Zips, Daniel D; De-Colle, Chiara C; Welz, Stefan S; Linge, Annett A; Lohaus, Fabian F; Baretton, Gustavo G; Gauler, Thomas T; Baumann, Michael M; Krause, Mechthild M; Schuler, Martin M; Bankfalvi, Agnes A; Höing, Benedikt B; Lang, Stephan S; Stuschke, Martin M
Publication Date: 2021-02

Variant appearance in text: rs50871
PubMed Link: 32546699
Variant Present in the following documents:
  • Main text
  • 41397_2020_Article_174.pdf
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Nucleotide excision repair pathway gene polymorphisms are associated with risk and prognosis of colorectal cancer.

World Journal Of Gastroenterology
Li, Yan-Ke YK; Xu, Qian Q; Sun, Li-Ping LP; Gong, Yue-Hua YH; Jing, Jing-Jing JJ; Xing, Cheng-Zhong CZ; Yuan, Yuan Y
Publication Date: 2020-01-21

Variant appearance in text: rs50871
PubMed Link: 31988591
Variant Present in the following documents:
  • Main text
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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: ERCC2: 1238-1558G>T; rs50871
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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Genetic Variations and Cisplatin Nephrotoxicity: A Systematic Review.

Frontiers In Pharmacology
Zazuli, Zulfan Z; Vijverberg, Susanne S; Slob, Elise E; Liu, Geoffrey G; Carleton, Bruce B; Veltman, Joris J; Baas, Paul P; Masereeuw, Rosalinde R; Maitland-van der Zee, Anke-Hilse AH
Publication Date: 2018

Variant appearance in text: rs50871
PubMed Link: 30319427
Variant Present in the following documents:
  • Main text
  • fphar-09-01111.pdf
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The genetic component of human longevity: New insights from the analysis of pathway-based SNP-SNP interactions.

Aging Cell
Dato, Serena S; Soerensen, Mette M; De Rango, Francesco F; Rose, Giuseppina G; Christensen, Kaare K; Christiansen, Lene L; Passarino, Giuseppe G
Publication Date: 2018-06

Variant appearance in text: rs50871
PubMed Link: 29577582
Variant Present in the following documents:
  • Main text
  • ACEL-17-e12755.pdf
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Contribution of DNA repair xeroderma pigmentosum group D genotypes to pancreatic cancer risk in the Chinese Han population.

Genetics And Molecular Biology
Yan, Dong D; Liang, Xiao-Hui XH; Ding, Wei W; Xu, Xin-Jian XJ; Wang, Xi-Yan XY
Publication Date: 2018

Variant appearance in text: rs50871
PubMed Link: 29260835
Variant Present in the following documents:
  • Main text
  • 1415-4757-gmb-1678-4685-gmb-2017-0033.pdf
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Genetic variants in ERCC1 and XPC predict survival outcome of non-small cell lung cancer patients treated with platinum-based therapy.

Scientific Reports
Zhang, Ruoxin R; Jia, Ming M; Xue, Huijing H; Xu, Yuan Y; Wang, Mengyun M; Zhu, Meiling M; Sun, Menghong M; Chang, Jianhua J; Wei, Qingyi Q
Publication Date: 2017-09-06

Variant appearance in text: rs50871
PubMed Link: 28878296
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10800.pdf
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Polymorphisms of multiple genes involved in NER pathway predict prognosis of gastric cancer.

Oncotarget
Liu, Jingwei J; Deng, Na N; Xu, Qian Q; Sun, Liping L; Tu, Huakang H; Wang, Zhenning Z; Xing, Chengzhong C; Yuan, Yuan Y
Publication Date: 2016-07-26

Variant appearance in text: rs50871
PubMed Link: 27340861
Variant Present in the following documents:
  • Main text
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Fine-mapping markers of lung cancer susceptibility in a sub-region of chromosome 19q13.3 among Chinese.

Oncotarget
Yin, Jiaoyang J; Wang, Huiwen H; Vogel, Ulla U; Wang, Chunhong C; Ma, Yegang Y; Hou, Wei W; Zhang, Ying Y; Guo, Li L; Li, Xinxin X
Publication Date: 2016-09-20

Variant appearance in text: rs50871
PubMed Link: 27183913
Variant Present in the following documents:
  • Main text
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Polymorphisms in DNA repair and oxidative stress genes associated with pre-treatment cognitive function in breast cancer survivors: an exploratory study.

Springerplus
Koleck, Theresa A TA; Bender, Catherine M CM; Sereika, Susan M SM; Brufsky, Adam M AM; Lembersky, Barry C BC; McAuliffe, Priscilla F PF; Puhalla, Shannon L SL; Rastogi, Priya P; Conley, Yvette P YP
Publication Date: 2016

Variant appearance in text: rs50871
PubMed Link: 27099827
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_2061.pdf
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The association of six polymorphisms of five genes involved in three steps of nucleotide excision repair pathways with hepatocellular cancer risk.

Oncotarget
Wang, Bengang B; Xu, Qian Q; Yang, Huai-Wei HW; Sun, Li-Ping LP; Yuan, Yuan Y
Publication Date: 2016-04-12

Variant appearance in text: rs50871
PubMed Link: 26967386
Variant Present in the following documents:
  • Main text
  • oncotarget-07-20357.pdf
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Association of NER pathway gene polymorphisms with susceptibility to laryngeal cancer in a Chinese population.

International Journal Of Clinical And Experimental Pathology
Sun, Yanan Y; Tan, Lijun L; Li, Huijun H; Qin, Xiaowei X; Liu, Jiangtao J
Publication Date: 2015

Variant appearance in text: rs50871
PubMed Link: 26617899
Variant Present in the following documents:
  • Main text
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Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis.

International Journal Of Molecular Sciences
Ravegnini, Gloria G; Nannini, Margherita M; Sammarini, Giulia G; Astolfi, Annalisa A; Biasco, Guido G; Pantaleo, Maria A MA; Hrelia, Patrizia P; Angelini, Sabrina S
Publication Date: 2015-07-09

Variant appearance in text: rs50871
PubMed Link: 26184165
Variant Present in the following documents:
  • Main text
  • ijms-16-15592.pdf
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Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Publication Date: 2015-04

Variant appearance in text: rs50871
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
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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: rs50871
PubMed Link: 24487794
Variant Present in the following documents:
  • Main text
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Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.

Plos One
Zhang, Lu L; Xu, Jia-Wei JW; Qu, Xin X; Liu, Dong-Rui DR; Liu, Ping P; Zhao, Xin-Zhi XZ
Publication Date: 2013

Variant appearance in text: rs50871
PubMed Link: 23776437
Variant Present in the following documents:
  • Main text
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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: rs50871
PubMed Link: 23720401
Variant Present in the following documents:
  • Main text
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Gastrointestinal stromal tumors, somatic mutations and candidate genetic risk variants.

Plos One
O'Brien, Katie M KM; Orlow, Irene I; Antonescu, Cristina R CR; Ballman, Karla K; McCall, Linda L; DeMatteo, Ronald R; Engel, Lawrence S LS
Publication Date: 2013

Variant appearance in text: rs50871
PubMed Link: 23637977
Variant Present in the following documents:
  • Main text
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Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population.

Carcinogenesis
Li, Wen-Qing WQ; Hu, Nan N; Hyland, Paula L PL; Gao, Ying Y; Wang, Zhao-Ming ZM; Yu, Kai K; Su, Hua H; Wang, Chao-Yu CY; Wang, Le-Min LM; Chanock, Stephen J SJ; Burdett, Laurie L; Ding, Ti T; Qiao, You-Lin YL; Fan, Jin-Hu JH; Wang, Yuan Y; Xu, Yi Y; Shi, Jian-Xin JX; Gu, Fangyi F; Wheeler, William W; Xiong, Xiao-Qin XQ; Giffen, Carol C; Tucker, Margaret A MA; Dawsey, Sanford M SM; Freedman, Neal D ND; Abnet, Christian C CC; Goldstein, Alisa M AM; Taylor, Philip R PR
Publication Date: 2013-07

Variant appearance in text: rs50871
PubMed Link: 23504502
Variant Present in the following documents:
  • Main text
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Polymorphisms of nucleotide excision repair genes predict melanoma survival.

The Journal Of Investigative Dermatology
Li, Chunying C; Yin, Ming M; Wang, Li-E LE; Amos, Christopher I CI; Zhu, Dakai D; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Grimm, Elizabeth A EA; Wei, Qingyi Q
Publication Date: 2013-07

Variant appearance in text: rs50871
PubMed Link: 23407396
Variant Present in the following documents:
  • Main text
  • nihms425831.pdf
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Nucleotide excision DNA repair is associated with age-related vascular dysfunction.

Circulation
Durik, Matej M; Kavousi, Maryam M; van der Pluijm, Ingrid I; Isaacs, Aaron A; Cheng, Caroline C; Verdonk, Koen K; Loot, Annemarieke E AE; Oeseburg, Hisko H; Bhaggoe, Usha Musterd UM; Leijten, Frank F; van Veghel, Richard R; de Vries, René R; Rudez, Goran G; Brandt, Renata R; Ridwan, Yanto R YR; van Deel, Elza D ED; de Boer, Martine M; Tempel, Dennie D; Fleming, Ingrid I; Mitchell, Gary F GF; Verwoert, Germaine C GC; Tarasov, Kirill V KV; Uitterlinden, Andre G AG; Hofman, Albert A; Duckers, Henricus J HJ; van Duijn, Cornelia M CM; Oostra, Ben A BA; Witteman, Jacqueline C M JC; Duncker, Dirk J DJ; Danser, A H Jan AH; Hoeijmakers, Jan H JH; Roks, Anton J M AJ
Publication Date: 2012-07-24

Variant appearance in text: rs50871
PubMed Link: 22705887
Variant Present in the following documents:
  • Main text
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Germ line variation in nucleotide excision repair genes and lung cancer risk in smokers.

International Journal Of Molecular Epidemiology And Genetics
Sakoda, Lori C LC; Loomis, Melissa M MM; Doherty, Jennifer A JA; Julianto, Liberto L; Barnett, Matt J MJ; Neuhouser, Marian L ML; Thornquist, Mark D MD; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C
Publication Date: 2012

Variant appearance in text: rs50871
PubMed Link: 22493747
Variant Present in the following documents:
  • Main text
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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: rs50871
PubMed Link: 22454423
Variant Present in the following documents:
  • Main text
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Polymorphisms in nucleotide excision repair genes and endometrial cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Doherty, Jennifer A JA; Weiss, Noel S NS; Fish, Sherianne S; Fan, Wenhong W; Loomis, Melissa M MM; Sakoda, Lori C LC; Rossing, Mary Anne MA; Zhao, Lue Ping LP; Chen, Chu C
Publication Date: 2011-09

Variant appearance in text: rs50871
PubMed Link: 21750170
Variant Present in the following documents:
  • Main text
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Comprehensive pathway-based interrogation of genetic variations in the nucleotide excision DNA repair pathway and risk of bladder cancer.

Cancer
Xing, Jinliang J; Dinney, Colin P CP; Shete, Sanjay S; Huang, Maosheng M; Hildebrandt, Michelle A MA; Chen, Zhinan Z; Gu, Jian J
Publication Date: 2012-01-01

Variant appearance in text: rs50871
PubMed Link: 21692063
Variant Present in the following documents:
  • Main text
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Polymorphisms in ABCB1 and ERCC2 associated with ovarian cancer outcome.

International Journal Of Molecular Epidemiology And Genetics
Peethambaram, Prema P; Fridley, Brooke L BL; Vierkant, Robert A RA; Larson, Melissa C MC; Kalli, Kimberly R KR; Elliott, Elaine A EA; Oberg, Ann L AL; White, Kristin L KL; Rider, David N DN; Keeney, Gary L GL; Cunningham, Julie M JM; Hartmann, Lynn C LC; Goode, Ellen L EL
Publication Date: 2011

Variant appearance in text: rs50871
PubMed Link: 21686133
Variant Present in the following documents:
  • Main text
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