ERCC2 c.1832-70C>T

Variant ID: 19-45856144-G-A

NM_000400.3(ERCC2):c.1832-70C>T

This variant was identified in 29 publications

View GRCh38 version.




Publications:


Influence of Single-Nucleotide Polymorphisms on Clinical Outcomes of Capecitabine-Based Chemotherapy in Colorectal Cancer Patients: A Systematic Review.

Cancers
Cura, Yasmin Y; Pérez-Ramírez, Cristina C; Sánchez-Martín, Almudena A; Membrive-Jimenez, Cristina C; Valverde-Merino, María Isabel MI; González-Flores, Encarnación E; Morales, Alberto Jiménez AJ
Publication Date: 2023-03-17

Variant appearance in text: ERCC2: 1832-70C>T; rs1799787
PubMed Link: 36980706
Variant Present in the following documents:
  • Main text
  • cancers-15-01821.pdf
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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: ERCC2: 1832-70C>T; rs1799787
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs1799787
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs1799787
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
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Cellular Mechanisms Accounting for the Refractoriness of Colorectal Carcinoma to Pharmacological Treatment.

Cancers
Marin, Jose J G JJG; Macias, Rocio I R RIR; Monte, Maria J MJ; Herraez, Elisa E; Peleteiro-Vigil, Ana A; Blas, Beatriz Sanchez de BS; Sanchon-Sanchez, Paula P; Temprano, Alvaro G AG; Espinosa-Escudero, Ricardo A RA; Lozano, Elisa E; Briz, Oscar O; Romero, Marta R MR
Publication Date: 2020-09-11

Variant appearance in text: ERCC2: 1832-70C>T; rs1799787
PubMed Link: 32933095
Variant Present in the following documents:
  • Main text
  • cancers-12-02605.pdf
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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: rs1799787
PubMed Link: 30319427
Variant Present in the following documents:
  • Main text
  • fphar-09-01111.pdf
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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: rs1799787
PubMed Link: 28827732
Variant Present in the following documents:
  • 41598_2017_7737_MOESM1_ESM.pdf
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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: rs1799787
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



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: rs1799787
PubMed Link: 27183913
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1799787
PubMed Link: 27099827
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_2061.pdf
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Polymorphisms in DNA repair genes of XRCC1, XPA, XPC, XPD and associations with lung cancer risk in Chinese people.

Thoracic Cancer
Mei, Chaorong C; Hou, Mei M; Guo, Shanxian S; Hua, Feng F; Zheng, Dejie D; Xu, Feng F; Jiang, Yong Y; Li, Lu L; Qiao, Youlin Y; Fan, Yaguang Y; Zhou, Qinghua Q
Publication Date: 2014-05

Variant appearance in text: rs1799787
PubMed Link: 26767006
Variant Present in the following documents:
  • Main text
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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: rs1799787
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
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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: rs1799787
PubMed Link: 24487794
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1799787
PubMed Link: 23776437
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: rs1799787
PubMed Link: 23720401
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1799787
PubMed Link: 23637977
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1799787
PubMed Link: 23513043
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1799787
PubMed Link: 23407396
Variant Present in the following documents:
  • Main text
  • nihms425831.pdf
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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: rs1799787
PubMed Link: 22493747
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: rs1799787
PubMed Link: 22454423
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1799787
PubMed Link: 21976407
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: rs1799787
PubMed Link: 21692063
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1799787
PubMed Link: 21686133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study.

Carcinogenesis
Roberts, Michelle R MR; Shields, Peter G PG; Ambrosone, Christine B CB; Nie, Jing J; Marian, Catalin C; Krishnan, Shiva S SS; Goerlitz, David S DS; Modali, Ramakrishna R; Seddon, Michael M; Lehman, Teresa T; Amend, Kandace L KL; Trevisan, Maurizio M; Edge, Stephen B SB; Freudenheim, Jo L JL
Publication Date: 2011-08

Variant appearance in text: ERCC2: 1832-70C>T; rs1799787
PubMed Link: 21622940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic effects and modifiers of radiotherapy and chemotherapy on survival in pancreatic cancer.

Pancreas
Zeng, Hongmei H; Yu, Herbert H; Lu, Lingeng L; Jain, Dhanpat D; Kidd, Mark S MS; Saif, M Wasif MW; Chanock, Stephen J SJ; Hartge, Patricia P; , ; Risch, Harvey A HA
Publication Date: 2011-07

Variant appearance in text: rs1799787
PubMed Link: 21487324
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA repair genotype interacts with arsenic exposure to increase bladder cancer risk.

Toxicology Letters
Andrew, Angeline S AS; Mason, Rebecca A RA; Kelsey, Karl T KT; Schned, Alan R AR; Marsit, Carmen J CJ; Nelson, Heather H HH; Karagas, Margaret R MR
Publication Date: 2009-05-22

Variant appearance in text: rs1799787
PubMed Link: 19429237
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotype frequencies in a sub-region of chromosome 19q13.3, related to risk and prognosis of cancer, differ dramatically between ethnic groups.

Bmc Medical Genetics
Schierup, Mikkel H MH; Mailund, Thomas T; Li, Heng H; Wang, Jun J; Tjønneland, Anne A; Vogel, Ulla U; Bolund, Lars L; Nexø, Bjørn A BA
Publication Date: 2009-03-03

Variant appearance in text: rs1799787
PubMed Link: 19257887
Variant Present in the following documents:
  • 1471-2350-10-20.pdf
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Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.

International Journal Of Cancer
Chang, Jeffrey S JS; Wrensch, Margaret R MR; Hansen, Helen M HM; Sison, Jennette D JD; Aldrich, Melinda C MC; Quesenberry, Charles P CP; Seldin, Michael F MF; Kelsey, Karl T KT; Kittles, Rick A RA; Silva, Gabriel G; Wiencke, John K JK
Publication Date: 2008-11-01

Variant appearance in text: rs1799787
PubMed Link: 18709642
Variant Present in the following documents:
  • Main text
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Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

Bmc Bioinformatics
Xie, Qian Q; Ratnasinghe, Luke D LD; Hong, Huixiao H; Perkins, Roger R; Tang, Ze-Zhong ZZ; Hu, Nan N; Taylor, Philip R PR; Tong, Weida W
Publication Date: 2005-07-15

Variant appearance in text: rs1799787
PubMed Link: 16026601
Variant Present in the following documents:
  • Main text
  • 1471-2105-6-S2-S4.pdf
View BVdb publication page