ERCC2 c.1238-1492T>A

Variant ID: 19-45862449-A-T

NM_000400.3(ERCC2):c.1238-1492T>A

This variant was identified in 25 publications

View GRCh38 version.




Publications:


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: rs50872
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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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: rs50872
PubMed Link: 34284736
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8570.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: rs50872
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: rs50872
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • 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: rs50872
PubMed Link: 30319427
Variant Present in the following documents:
  • Main text
  • fphar-09-01111.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: rs50872
PubMed Link: 29260835
Variant Present in the following documents:
  • Main text
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Association between ERCC1 Polymorphism and the Risk and Clinicopathological Features of Breast Cancer in Thai Women in the Lower Northeastern Region

Asian Pacific Journal Of Cancer Prevention : Apjcp
Pongsavee, Malinee M; Wisuwan, Kamol K; Tiwawech, Danai D
Publication Date: 2017-11-26

Variant appearance in text: rs50872
PubMed Link: 29172271
Variant Present in the following documents:
  • Main text
  • APJCP-18-2999.pdf
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A diagnostic microdosing approach to investigate platinum sensitivity in non-small cell lung cancer.

International Journal Of Cancer
Wang, Si-Si SS; Zimmermann, Maike M; Zhang, Hongyong H; Lin, Tzu-Yin TY; Malfatti, Michael M; Haack, Kurt K; Turteltaub, Kenneth W KW; Cimino, George D GD; de Vere White, Ralph R; Pan, Chong-Xian CX; Henderson, Paul T PT
Publication Date: 2017-08-01

Variant appearance in text: rs50872
PubMed Link: 28437852
Variant Present in the following documents:
  • Main text
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Nucleotide excision repair pathway gene polymorphisms are linked to breast cancer risk in a Chinese population.

Oncotarget
He, Bang-Shun BS; Xu, Tao T; Pan, Yu-Qin YQ; Wang, Han-Jin HJ; Cho, William C WC; Lin, Kang K; Sun, Hui-Ling HL; Gao, Tian-Yi TY; Wang, Shu-Kui SK
Publication Date: 2016-12-20

Variant appearance in text: rs50872
PubMed Link: 27768589
Variant Present in the following documents:
  • Main text
  • oncotarget-07-84872.pdf
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The genetic variations in DNA repair genes ERCC2 and XRCC1 were associated with the overall survival of advanced non-small-cell lung cancer patients.

Cancer Medicine
Wang, Suhan S; Wang, Jianzhong J; Bai, Yansen Y; Wang, Qing Q; Liu, Li L; Zhang, Kai K; Hong, Xiaohua X; Deng, Qifei Q; Zhang, Xiaomin X; He, Meian M; Wu, Tangchun T; Xu, Ping P; Guo, Huan H
Publication Date: 2016-09

Variant appearance in text: rs50872
PubMed Link: 27465648
Variant Present in the following documents:
  • Main text
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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: rs50872
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: rs50872
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: rs50872
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: rs50872
PubMed Link: 26967386
Variant Present in the following documents:
  • Main text
  • oncotarget-07-20357.pdf
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Genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancer.

Bmc Pharmacology & Toxicology
Lambrechts, Sandrina S; Lambrechts, Diether D; Despierre, Evelyn E; Van Nieuwenhuysen, Els E; Smeets, Dominiek D; Debruyne, Philip R PR; Renard, Vincent V; Vroman, Philippe P; Luyten, Daisy D; Neven, Patrick P; Amant, Frédéric F; Leunen, Karin K; Vergote, Ignace I; ,
Publication Date: 2015-02-27

Variant appearance in text: rs50872
PubMed Link: 25881102
Variant Present in the following documents:
  • Main text
  • 40360_2015_Article_1.pdf
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Can pharmacogenetics explain efficacy and safety of cisplatin pharmacotherapy?

Frontiers In Genetics
Roco, Angela A; Cayún, Juan J; Contreras, Stephania S; Stojanova, Jana J; Quiñones, Luis L
Publication Date: 2014

Variant appearance in text: rs50872
PubMed Link: 25452763
Variant Present in the following documents:
  • Main text
  • fgene-05-00391.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: rs50872
PubMed Link: 24487794
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: rs50872
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: rs50872
PubMed Link: 23637977
Variant Present in the following documents:
  • Main text
  • pone.0062119.pdf
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Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
White, Kristin L KL; Vierkant, Robert A RA; Fogarty, Zachary C ZC; Charbonneau, Bridget B; Block, Matthew S MS; Pharoah, Paul D P PD; Chenevix-Trench, Georgia G; , ; Rossing, Mary Anne MA; Cramer, Daniel W DW; Pearce, Celeste Leigh CL; Schildkraut, Joellen M JM; Menon, Usha U; Kjaer, Susanne Kruger SK; Levine, Douglas A DA; Gronwald, Jacek J; Culver, Hoda Anton HA; Whittemore, Alice S AS; Karlan, Beth Y BY; Lambrechts, Diether D; Wentzensen, Nicolas N; Kupryjanczyk, Jolanta J; Chang-Claude, Jenny J; Bandera, Elisa V EV; Hogdall, Estrid E; Heitz, Florian F; Kaye, Stanley B SB; Fasching, Peter A PA; Campbell, Ian I; Goodman, Marc T MT; Pejovic, Tanja T; Bean, Yukie Y; Lurie, Galina G; Eccles, Diana D; Hein, Alexander A; Beckmann, Matthias W MW; Ekici, Arif B AB; Paul, James J; Brown, Robert R; Flanagan, James M JM; Harter, Philipp P; du Bois, Andreas A; Schwaab, Ira I; Hogdall, Claus K CK; Lundvall, Lene L; Olson, Sara H SH; Orlow, Irene I; Paddock, Lisa E LE; Rudolph, Anja A; Eilber, Ursula U; Dansonka-Mieszkowska, Agnieszka A; Rzepecka, Iwona K IK; Ziolkowska-Seta, Izabela I; Brinton, Louise L; Yang, Hannah H; Garcia-Closas, Montserrat M; Despierre, Evelyn E; Lambrechts, Sandrina S; Vergote, Ignace I; Walsh, Christine C; Lester, Jenny J; Sieh, Weiva W; McGuire, Valerie V; Rothstein, Joseph H JH; Ziogas, Argyrios A; Lubinski, Jan J; Cybulski, Cezary C; Menkiszak, Janusz J; Jensen, Allan A; Gayther, Simon A SA; Ramus, Susan J SJ; Gentry-Maharaj, Aleksandra A; Berchuck, Andrew A; Wu, Anna H AH; Pike, Malcolm C MC; Van Denberg, David D; Terry, Kathryn L KL; Vitonis, Allison F AF; Doherty, Jennifer A JA; Johnatty, Sharon E SE; Defazio, Anna A; Song, Honglin H; Tyrer, Jonathan J; Sellers, Thomas A TA; Phelan, Catherine M CM; Kalli, Kimberly R KR; Cunningham, Julie M JM; Fridley, Brooke L BL; Goode, Ellen L EL
Publication Date: 2013-05

Variant appearance in text: rs50872
PubMed Link: 23513043
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: rs50872
PubMed Link: 22493747
Variant Present in the following documents:
  • Main text
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Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer.

Molecular Carcinogenesis
Buch, Shama C SC; Diergaarde, Brenda B; Nukui, Tomoko T; Day, Roger S RS; Siegfried, Jill M JM; Romkes, Marjorie M; Weissfeld, Joel L JL
Publication Date: 2012-10

Variant appearance in text: rs50872
PubMed Link: 21976407
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: rs50872
PubMed Link: 21750170
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: rs50872
PubMed Link: 21686133
Variant Present in the following documents:
  • Main text
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Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies.

British Journal Of Haematology
Shen, Min M; Menashe, Idan I; Morton, Lindsay M LM; Zhang, Yawei Y; Armstrong, Bruce B; Wang, Sophia S SS; Lan, Qing Q; Hartge, Patricia P; Purdue, Mark P MP; Cerhan, James R JR; Grulich, Andrew A; Cozen, Wendy W; Yeager, Meredith M; Holford, Theodore R TR; Vajdic, Claire M CM; Davis, Scott S; Leaderer, Brian B; Kricker, Anne A; Severson, Richard K RK; Zahm, Shelia H SH; Chatterjee, Nilanjan N; Rothman, Nathaniel N; Chanock, Stephen J SJ; Zheng, Tongzhang T
Publication Date: 2010-11

Variant appearance in text: rs50872
PubMed Link: 20813000
Variant Present in the following documents:
  • Main text
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