ERCC2 c.2251A>C ;(p.K751Q)

Variant ID: 19-45854919-T-G

NM_000400.3(ERCC2):c.2251A>C;(p.K751Q)

This variant was identified in 591 publications

View GRCh38 version.




Publications:


Relationship between IDH1/2 and TERT promoter mutation and the prognosis of human glioma patients.

Pakistan Journal Of Medical Sciences
Liu, Xipeng X; Liu, Ming M; Cao, Bing B; Qiao, Jianxin J; Zhang, Xiufeng X
Publication Date: 2023

Variant appearance in text: rs13181
PubMed Link: 37250582
Variant Present in the following documents:
  • Main text
  • PJMS-39-843.pdf
View BVdb publication page



Association of TP53 Single Nucleotide Polymorphisms with Prostate Cancer in a Racially Diverse Cohort of Men.

Biomedicines
Duncan, Allison A; Nousome, Darryl D; Ricks, Randy R; Kuo, Huai-Ching HC; Ravindranath, Lakshmi L; Dobi, Albert A; Cullen, Jennifer J; Srivastava, Shiv S; Chesnut, Gregory T GT; Petrovics, Gyorgy G; Kohaar, Indu I
Publication Date: 2023-05-09

Variant appearance in text: XPD: Lys751Gln
PubMed Link: 37239075
Variant Present in the following documents:
  • biomedicines-11-01404.pdf
View BVdb publication page



Analysis and validation of aging-related genes in prognosis and immune function of glioblastoma.

Bmc Medical Genomics
Mu, Jianhua J; Gong, Jianan J; Shi, Miao M; Zhang, Yinian Y
Publication Date: 2023-05-19

Variant appearance in text: ERCC2: K751Q
PubMed Link: 37208656
Variant Present in the following documents:
  • Main text
  • 12920_2023_Article_1538.pdf
View BVdb publication page



Translation of nutrigenomic research for personalised and precision nutrition for cancer prevention and for cancer survivors.

Redox Biology
Malcomson, F C FC; Mathers, J C JC
Publication Date: 2023-04-22

Variant appearance in text: rs13181
PubMed Link: 37105011
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ERCC2: K751Q
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Association of Clinical Aspects and Genetic Variants with the Severity of Cisplatin-Induced Ototoxicity in Head and Neck Squamous Cell Carcinoma: A Prospective Cohort Study.

Cancers
Macedo, Ligia Traldi LT; Costa, Ericka Francislaine Dias EFD; Carvalho, Bruna Fernandes BF; Lourenço, Gustavo Jacob GJ; Calonga, Luciane L; Castilho, Arthur Menino AM; Chone, Carlos Takahiro CT; Lima, Carmen Silvia Passos CSP
Publication Date: 2023-03-14

Variant appearance in text: XPD: 2251A>C; rs13181
PubMed Link: 36980643
Variant Present in the following documents:
  • Main text
  • cancers-15-01759.pdf
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: ERCC2: 2251A>C; Lys751Gln
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Strong Cumulative Evidence of Associations of 6 Single Nucleotide Polymorphisms with Ovarian Cancer Risk: An Umbrella Review.

Journal Of Clinical Medicine
Huo, Ying-Jun YJ; Li, Xiao-Ying XY; Zhang, Meng M; Gao, Chang C; Xiao, Qian Q; Zhao, Yu-Hong YH; Gao, Song S; Gong, Ting-Ting TT; Wu, Qi-Jun QJ
Publication Date: 2023-03-03

Variant appearance in text: rs13181
PubMed Link: 36902812
Variant Present in the following documents:
  • jcm-12-02025.pdf
View BVdb publication page



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: rs13181
PubMed Link: 36874118
Variant Present in the following documents:
  • Main text
  • fonc-13-1094309.pdf
View BVdb publication page



Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: ERCC2: Lys751Gln
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 5
View BVdb publication page



Contribution of Genetic Polymorphisms in Human Health.

International Journal Of Environmental Research And Public Health
Chiarella, Pieranna P; Capone, Pasquale P; Sisto, Renata R
Publication Date: 2023-01-04

Variant appearance in text: rs13181
PubMed Link: 36673670
Variant Present in the following documents:
  • ijerph-20-00912.pdf
View BVdb publication page



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: rs13181
PubMed Link: 36632296
Variant Present in the following documents:
  • Main text
  • rpor-27-6-1045.pdf
View BVdb publication page



Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso.

Molecular Genetics & Genomic Medicine
Adico, Marc Donald Wilfried MDW; Zouré, Abdou Azaque AA; Sombié, Herman Karim HK; Kiendrebeogo, Touwendpoulimdé Isabelle TI; Dabré, Soayebo S; Amegnona, Lanyo Jospin LJ; Bakyono, Bélélé Siméon BS; Traoré, Lassina L; Ouedraogo, Teega-Wendé Clarisse TC; Ouedraogo, Rogomenoma Alice RA; Zohoncon, Théodora M TM; Yonli, Albert Théophane AT; Bayala, Bagora B; Bambara, Hierrhum Aboubacar HA; Djigma, Florencia W FW; Simpore, Jacques J
Publication Date: 2023-01-03

Variant appearance in text: ERCC2: 2251A>C; rs13181
PubMed Link: 36594475
Variant Present in the following documents:
  • Main text
  • MGG3-11-e2134.pdf
View BVdb publication page



Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review.

Bmc Cancer
Hurkmans, Evelien G E EGE; Brand, Annouk C A M ACAM; Verdonschot, Job A J JAJ; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH
Publication Date: 2022-12-19

Variant appearance in text: rs13181
PubMed Link: 36536332
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_10434.pdf
  • 12885_2022_10434_MOESM2_ESM.pdf
View BVdb publication page



The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review.

Cancers
Wang, Guanwu G; Heij, Lara Rosaline LR; Liu, Dong D; Dahl, Edgar E; Lang, Sven Arke SA; Ulmer, Tom Florian TF; Luedde, Tom T; Neumann, Ulf Peter UP; Bednarsch, Jan J
Publication Date: 2022-12-02

Variant appearance in text: ERCC2: Lys751Gln; rs13181
PubMed Link: 36497451
Variant Present in the following documents:
  • Main text
  • cancers-14-05969.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: rs13181
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Nephrotoxic effect of heavy metals and the role of DNA repair gene among secondary aluminum smelter workers.

Environmental Science And Pollution Research International
Moubarz, Gehan G; Mohammed, Atef M F AMF; Saleh, Inas A IA; Shahy, Eman M EM; Helmy, Mona A MA
Publication Date: 2022-11-23

Variant appearance in text: XPD: Lys751Gln; rs13181
PubMed Link: 36418822
Variant Present in the following documents:
  • Main text
  • 11356_2022_Article_24270.pdf
View BVdb publication page



Polymorphisms of nucleotide excision repair genes associated with colorectal cancer risk: Meta-analysis and trial sequential analysis.

Frontiers In Genetics
Yi, Chuncheng C; Li, Tiandong T; Shen, Yajing Y; Wang, Peng P; Dai, Liping L; Shi, Jianxiang J; Wang, Keyan K; Sun, Changqing C; Ye, Hua H
Publication Date: 2022

Variant appearance in text: rs13181
PubMed Link: 36386844
Variant Present in the following documents:
  • Main text
  • fgene-13-1009938.pdf
View BVdb publication page



Classic and New Markers in Diagnostics and Classification of Breast Cancer.

Cancers
Beňačka, Roman R; Szabóová, Daniela D; Guľašová, Zuzana Z; Hertelyová, Zdenka Z; Radoňák, Jozef J
Publication Date: 2022-11-05

Variant appearance in text: ERCC2: Lys751Gln
PubMed Link: 36358862
Variant Present in the following documents:
  • Main text
  • cancers-14-05444.pdf
View BVdb publication page



SOD2 Gene Variants (rs4880 and rs5746136) and Their Association with Breast Cancer Risk.

Current Issues In Molecular Biology
Gallegos-Arreola, Martha P MP; Ramírez-Patiño, Ramiro R; Sánchez-López, Josefina Y JY; Zúñiga-González, Guillermo M GM; Figuera, Luis E LE; Delgado-Saucedo, Jorge I JI; Gómez-Meda, Belinda C BC; Rosales-Reynoso, Mónica A MA; Puebla-Pérez, Ana M AM; Lemus-Varela, María L ML; Garibaldi-Ríos, Asbiel F AF; Marín-Domínguez, Nayely A NA; Pacheco-Verduzco, Diana P DP; Mohamed-Flores, Emaan A EA
Publication Date: 2022-10-26

Variant appearance in text: rs13181
PubMed Link: 36354667
Variant Present in the following documents:
  • cimb-44-00355.pdf
View BVdb publication page



Targeting DNA damage response as a potential therapeutic strategy for head and neck squamous cell carcinoma.

Frontiers In Oncology
Lei, Huimin H; He, Ading A; Jiang, Yingying Y; Ruan, Min M; Han, Nannan N
Publication Date: 2022

Variant appearance in text: rs13181
PubMed Link: 36338767
Variant Present in the following documents:
  • Main text
  • fonc-12-1031944.pdf
View BVdb publication page



Different Gene Sets Are Associated With Azacitidine Response In Vitro Versus in Myelodysplastic Syndrome Patients.

Hemasphere
Le Pannérer, Marguerite-Marie MM; Diesch, Jeannine J; Casquero, Raquel R; Maher, Michael M; Garcia, Olga O; Haferlach, Torsten T; Zuber, Johannes J; Kündgen, Andrea A; Götze, Katharina S KS; Buschbeck, Marcus M
Publication Date: 2022-11

Variant appearance in text: ERCC2: Lys751Gln
PubMed Link: 36310757
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics
Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E
Publication Date: 2022-10-17

Variant appearance in text: rs13181
PubMed Link: 36253817
Variant Present in the following documents:
  • 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
  • 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: ERCC2: K751Q
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs13181
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



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: ERCC2: K751Q; rs13181
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
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.

Acta Neuropathologica
Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F
Publication Date: 2022-10

Variant appearance in text: ERCC2: 2251A>C; K751Q; rs13181
PubMed Link: 35925403
Variant Present in the following documents:
  • 401_2022_2473_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: ERCC2: 2251A>C; Lys751Gln; rs13181
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Pharmacogenetics of taxane-induced neurotoxicity in breast cancer: Systematic review and meta-analysis.

Clinical And Translational Science
Guijosa, Alberto A; Freyria, Ana A; Espinosa-Fernandez, Jose Rodrigo JR; Estrada-Mena, Francisco J FJ; Armenta-Quiroga, Ana Sofía AS; Ortega-Treviño, Maria Fernanda MF; Catalán, Rodrigo R; Antonio-Aguirre, Bani B; Villarreal-Garza, Cynthia C; Perez-Ortiz, Andric C AC
Publication Date: 2022-10

Variant appearance in text: rs13181
PubMed Link: 35892315
Variant Present in the following documents:
  • Main text
  • CTS-15-2403.pdf
View BVdb publication page



Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Cancers
Dumont, Martine M; Weber-Lassalle, Nana N; Joly-Beauparlant, Charles C; Ernst, Corinna C; Droit, Arnaud A; Feng, Bing-Jian BJ; Dubois, Stéphane S; Collin-Deschesnes, Annie-Claude AC; Soucy, Penny P; Vallée, Maxime M; Fournier, Frédéric F; Lemaçon, Audrey A; Adank, Muriel A MA; Allen, Jamie J; Altmüller, Janine J; Arnold, Norbert N; Ausems, Margreet G E M MGEM; Berutti, Riccardo R; Bolla, Manjeet K MK; Bull, Shelley S; Carvalho, Sara S; Cornelissen, Sten S; Dufault, Michael R MR; Dunning, Alison M AM; Engel, Christoph C; Gehrig, Andrea A; Geurts-Giele, Willemina R R WRR; Gieger, Christian C; Green, Jessica J; Hackmann, Karl K; Helmy, Mohamed M; Hentschel, Julia J; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Horváth, Judit J; Ikram, M Arfan MA; Kaulfuß, Silke S; Keeman, Renske R; Kuang, Da D; Luccarini, Craig C; Maier, Wolfgang W; Martens, John W M JWM; Niederacher, Dieter D; Nürnberg, Peter P; Ott, Claus-Eric CE; Peters, Annette A; Pharoah, Paul D P PDP; Ramirez, Alfredo A; Ramser, Juliane J; Riedel-Heller, Steffi S; Schmidt, Gunnar G; Shah, Mitul M; Scherer, Martin M; Stäbler, Antje A; Strom, Tim M TM; Sutter, Christian C; Thiele, Holger H; van Asperen, Christi J CJ; van der Kolk, Lizet L; van der Luijt, Rob B RB; Volk, Alexander E AE; Wagner, Michael M; Waisfisz, Quinten Q; Wang, Qin Q; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Genome Of The Netherlands Project, ; Ghs Study Group, ; Devilee, Peter P; Tavtigian, Sean S; Bader, Gary D GD; Meindl, Alfons A; Goldgar, David E DE; Andrulis, Irene L IL; Schmutzler, Rita K RK; Easton, Douglas F DF; Schmidt, Marjanka K MK; Hahnen, Eric E; Simard, Jacques J
Publication Date: 2022-07-11

Variant appearance in text: ERCC2: Lys751Gln
PubMed Link: 35884425
Variant Present in the following documents:
  • cancers-14-03363.pdf
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: ERCC2: K751Q; rs13181
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Biodegradable Ultrasmall-in-Nano Architectures Loaded with Cisplatin Prodrug in Combination with Ionizing Radiation Induces DNA Damage and Apoptosis in Pancreatic Ductal Adenocarcinoma.

Cancers
Che, Pei Pei PP; Mapanao, Ana Katrina AK; Gregori, Alessandro A; Ermini, Maria Laura ML; Zamborlin, Agata A; Capula, Mjriam M; Ngadimin, Danitsja D; Slotman, Ben J BJ; Voliani, Valerio V; Sminia, Peter P; Giovannetti, Elisa E
Publication Date: 2022-06-20

Variant appearance in text: XPD: Lys751Gln
PubMed Link: 35740699
Variant Present in the following documents:
  • Main text
  • cancers-14-03034.pdf
View BVdb publication page



The interplay between XPG-Asp1104His polymorphism and reproductive risk factors elevates risk of breast cancer in Tanzanian women: A multiple interaction analysis.

Cancer Medicine
Adolf, Ismael C IC; Rweyemamu, Linus P LP; Akan, Gokce G; Mselle, Ted F TF; Dharsee, Nazima N; Namkinga, Lucy A LA; Lyantagaye, Sylvester L SL; Atalar, Fatmahan F
Publication Date: 2022-06-12

Variant appearance in text: XPD: Lys751Gln; rs13181
PubMed Link: 35691022
Variant Present in the following documents:
  • Main text
  • CAM4-12-472.pdf
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: ERCC2: K751Q; rs13181
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Genome-wide analysis identify novel germline genetic variations in ADCY1 influencing platinum-based chemotherapy response in non-small cell lung cancer.

Acta Pharmaceutica Sinica. B
Mao, Chenxue C; Chen, Juan J; Zou, Ting T; Zhou, Yuankang Y; Liu, Junyan J; Li, Xi X; Li, Xiangping X; Li, Min M; Pan, Pinhua P; Zhuo, Wei W; Gao, Yang Y; Hu, Shuo S; Xiao, Desheng D; Wu, Lin L; Wang, Zhan Z; Xu, Heng H; Yang, Wen W; Xu, Yingjie Y; Xiao, Haihua H; Hanada, Kazuhiko K; Zhang, Wei W; Zhou, Honghao H; Yin, Jiye J; Liu, Zhaoqian Z
Publication Date: 2022-03

Variant appearance in text: rs13181
PubMed Link: 35530157
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Prediction of lung cancer risk in Chinese population with genetic-environment factor using extreme gradient boosting.

Cancer Medicine
Li, Yutao Y; Zou, Zixiu Z; Gao, Zhunyi Z; Wang, Yi Y; Xiao, Man M; Xu, Chang C; Jiang, Gengxi G; Wang, Haijian H; Jin, Li L; Wang, Jiucun J; Wang, Huai Zhou HZ; Guo, Shicheng S; Wu, Junjie J
Publication Date: 2022-05-02

Variant appearance in text: rs13181
PubMed Link: 35499292
Variant Present in the following documents:
  • Main text
  • CAM4-11-4469.pdf
View BVdb publication page



The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population.

Evolutionary Bioinformatics Online
Khan, Abdul Rafay AR; Shah, Sayed Hajan SH; Ajaz, Sadia S; Firasat, Sadaf S; Abid, Aiysha A; Raza, Ali A
Publication Date: 2022

Variant appearance in text: rs13181
PubMed Link: 35497687
Variant Present in the following documents:
  • Main text
  • 10.1177_11769343221095834.pdf
View BVdb publication page



The current state of genetic risk models for the development of kidney cancer: a review and validation.

Bju International
Harrison, Hannah H; Li, Nicole N; Saunders, Catherine L CL; Rossi, Sabrina H SH; Dennis, Joe J; Griffin, Simon J SJ; Stewart, Grant D GD; Usher-Smith, Juliet A JA
Publication Date: 2022-11

Variant appearance in text: XPD: Lys751Gln; rs13181
PubMed Link: 35460182
Variant Present in the following documents:
  • BJU-130-550-s004.pdf
View BVdb publication page



The associations between interleukin-17 single-nucleotide polymorphism and colorectal cancer susceptibility: a systematic review and meta-analysis.

World Journal Of Surgical Oncology
Li, Gaoming G; Ma, Jingfu J; Zhang, Ning N; Li, Xiaogang X; Li, Fangfang F; Jiang, Yuxing Y
Publication Date: 2022-04-12

Variant appearance in text: XPD: Lys751Gln
PubMed Link: 35410225
Variant Present in the following documents:
  • 12957_2022_Article_2586.pdf
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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: ERCC2: 2251A>C; Lys751Gln; rs13181
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
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The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer
Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J
Publication Date: 2022-02

Variant appearance in text: ERCC2: Lys751Gln
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
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Polymorphisms in DNA Repair and Xenobiotic Biotransformation Enzyme Genes and Lung Cancer Risk in Coal Mine Workers.

Life (Basel, Switzerland)
Minina, Varvara V; Timofeeva, Anna A; Torgunakova, Anastasya A; Soboleva, Olga O; Bakanova, Marina M; Savchenko, Yana Y; Voronina, Elena E; Glushkov, Andrey A; Prosekov, Alexander A; Fucic, Aleksandra A
Publication Date: 2022-02-09

Variant appearance in text: ERCC2: Lys751Gln; rs13181
PubMed Link: 35207542
Variant Present in the following documents:
  • Main text
  • life-12-00255.pdf
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The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Bmc Cancer
Yang, Yefan Y; Ding, Ying Y; Gong, Yuxi Y; Zhao, Sha S; Li, Mingna M; Li, Xiao X; Song, Guoxin G; Zhai, Boya B; Liu, Jin J; Shao, Yang Y; Zhu, Liuqing L; Pang, Jiaohui J; Ma, Yutong Y; Ou, Qiuxiang Q; Wu, Xue X; Zhang, Zhihong Z
Publication Date: 2022-02-18

Variant appearance in text: ERCC2: 2251A>C; K751Q
PubMed Link: 35180847
Variant Present in the following documents:
  • 12885_2022_9279_MOESM3_ESM.xlsx, sheet 1
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Single nucleotide polymorphisms as the new predictors of therapy decisions in gastroesophageal junction and gastric adenocarcinoma?

Translational Cancer Research
Perkhofer, Lukas L; Hann, Alexander A
Publication Date: 2019-09

Variant appearance in text: rs13181
PubMed Link: 35116913
Variant Present in the following documents:
  • Main text
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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: ERCC2: Lys751Gln; rs13181
PubMed Link: 35112701
Variant Present in the following documents:
  • Main text
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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: ERCC2: Lys751Gln; rs13181
PubMed Link: 35112701
Variant Present in the following documents:
  • Main text
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The Association of ERCC1 and ERCC5 Polymorphisms with Lung Cancer Risk in Han Chinese.

Journal Of Cancer
Lan, Xueling X; Li, Ying Y; Wu, Yefeng Y; Li, Xia X; Xu, Lan L
Publication Date: 2022

Variant appearance in text: rs13181
PubMed Link: 35069899
Variant Present in the following documents:
  • Main text
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DNA Damage Repair: Predictor of Platinum Efficacy in Ovarian Cancer?

Biomedicines
Stefanou, Dimitra T DT; Souliotis, Vassilis L VL; Zakopoulou, Roubini R; Liontos, Michalis M; Bamias, Aristotelis A
Publication Date: 2021-12-31

Variant appearance in text: XPD: Lys751Gln
PubMed Link: 35052761
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00082.pdf
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DNA Damage Repair: Predictor of Platinum Efficacy in Ovarian Cancer?

Biomedicines
Stefanou, Dimitra T DT; Souliotis, Vassilis L VL; Zakopoulou, Roubini R; Liontos, Michalis M; Bamias, Aristotelis A
Publication Date: 2021-12-31

Variant appearance in text: XPD: Lys751Gln
PubMed Link: 35052761
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00082.pdf
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