Publications:

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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: ERCC5: D1104H

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Meta-Analysis of 49 SNPs Covering 25,446 Cases and 41,106 Controls Identifies Polymorphisms in Hormone Regulation and DNA Repair Genes Associated with Increased Endometrial Cancer Risk.

Genes

Das, Agneesh Pratim AP; Chaudhary, Nisha N; Tyagi, Shrishty S; Agarwal, Subhash M SM

Publication Date: 2023-03-17

Variant appearance in text: ERCC5: D1104H

PubMed Link: 36981012

Variant Present in the following documents:

• genes-14-00741.pdf

View BVdb publication page

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Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Translational Vision Science & Technology

Wang, Yuchuan Y; Li, Jun J; Hao, Peng P; Li, Jing J; Han, Ruifang R; Lin, Jinyong J; Li, Xuan X

Publication Date: 2023-02-01

Variant appearance in text: ERCC5: D1104H

PubMed Link: 36735267

Variant Present in the following documents:

• tvst-12-2-4_s004.xls, sheet 3
• tvst-12-2-4_s004.xls, sheet 1

View BVdb publication page

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Correlation of ERCC5 polymorphisms and linkage disequilibrium associated with overall survival and clinical outcome to chemotherapy in breast cancer.

Frontiers In Oncology

Khan, Iqra I; Masood, Nosheen N; Yasmin, Azra A

Publication Date: 2022

Variant appearance in text: rs17655

PubMed Link: 36686735

Variant Present in the following documents:

• Main text
• fonc-12-1091514.pdf

View BVdb publication page

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: ERCC5: 3310G>C; Asp1104His

PubMed Link: 36652909

Variant Present in the following documents:

• mmc8.xlsx, sheet 31
• mmc3.xlsx, sheet 32

View BVdb publication page

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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: rs17655

PubMed Link: 36632296

Variant Present in the following documents:

• Main text
• rpor-27-6-1045.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs17655

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs17655

PubMed Link: 36386844

Variant Present in the following documents:

• Main text
• fgene-13-1009938.pdf

View BVdb publication page

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Association of XRCC3 18067 C>T (Thr241Met) polymorphism with risk of cervical and ovarian cancers: A systematic review and meta-analysis.

Interventional Medicine & Applied Science

Karimi-Zarchi, Mojgan M; Moghimi, Mansour M; Abbasi, Hajar H; Hadadan, Amaneh A; Tabatabaei, Razieh-Sadat RS; Javaheri, Atiyeh A; Neamatzadeh, Hossein H

Publication Date: 2020-09

Variant appearance in text: ERCC5: Asp1104His

PubMed Link: 36343295

Variant Present in the following documents:

• imas-11-172.pdf

View BVdb publication page

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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: rs17655

PubMed Link: 36338767

Variant Present in the following documents:

• Main text
• fonc-12-1031944.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: ERCC5: 3310G>C; Asp1104His; rs17655

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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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: ERCC5: 3310G>C; Asp1104His; rs17655

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

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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: rs17655

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Polymorphisms in ERCC4 and ERCC5 and risk of cancers: Systematic research synopsis, meta-analysis, and epidemiological evidence.

Frontiers In Oncology

Zuo, Chunjian C; Lv, Xiaolong X; Liu, Tianyu T; Yang, Lei L; Yang, Zelin Z; Yu, Cao C; Chen, Huanwen H

Publication Date: 2022

Variant appearance in text: rs17655

PubMed Link: 36033436

Variant Present in the following documents:

• Main text
• fonc-12-951193.pdf
• Table_3.pdf

View BVdb publication page

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Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.

Biomed Research International

Brambullo, Tito T; Colonna, Michele Rosario MR; Vindigni, Vincenzo V; Piaserico, Stefano S; Masciopinto, Giuseppe G; Galeano, Mariarosaria M; Costa, Alfio Luca AL; Bassetto, Franco F

Publication Date: 2022

Variant appearance in text: rs17655

PubMed Link: 35898688

Variant Present in the following documents:

• BMRI2022-8549532.pdf

View BVdb publication page

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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: rs17655

PubMed Link: 35691022

Variant Present in the following documents:

• Main text
• CAM4-12-472.pdf

View BVdb publication page

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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: rs17655

PubMed Link: 35460182

Variant Present in the following documents:

• BJU-130-550-s004.pdf

View BVdb publication page

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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: rs17655

PubMed Link: 35207542

Variant Present in the following documents:

• Main text
• life-12-00255.pdf

View BVdb publication page

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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: rs17655

PubMed Link: 35069899

Variant Present in the following documents:

• Main text
• jcav13p0517.pdf

View BVdb publication page

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SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.

Biomedicines

Chu, Yu-De YD; Kee, Kwong-Ming KM; Lin, Wey-Ran WR; Lai, Ming-Wei MW; Lu, Sheng-Nan SN; Chung, Wen-Hung WH; Pang, See-Tong ST; Yeh, Chau-Ting CT

Publication Date: 2021-12-02

Variant appearance in text: ERCC5: 3310G>C; D1104H; rs17655

PubMed Link: 34944636

Variant Present in the following documents:

• Main text
• biomedicines-09-01819.pdf

View BVdb publication page

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SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.

Biomedicines

Chu, Yu-De YD; Kee, Kwong-Ming KM; Lin, Wey-Ran WR; Lai, Ming-Wei MW; Lu, Sheng-Nan SN; Chung, Wen-Hung WH; Pang, See-Tong ST; Yeh, Chau-Ting CT

Publication Date: 2021-12-02

Variant appearance in text: ERCC5: 3310G>C; D1104H; rs17655

PubMed Link: 34944636

Variant Present in the following documents:

• Main text
• biomedicines-09-01819.pdf

View BVdb publication page

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Validation of Genetic Markers Associated with Survival in Colorectal Cancer Patients Treated with Oxaliplatin-Based Chemotherapy.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Park, Hanla A HA; Seibold, Petra P; Edelmann, Dominic D; Benner, Axel A; Canzian, Federico F; Alwers, Elizabeth E; Jansen, Lina L; Schneider, Martin M; Hoffmeister, Michael M; Brenner, Hermann H; Chang-Claude, Jenny J

Publication Date: 2022-02

Variant appearance in text: ERCC5: Asp1104His; rs17655

PubMed Link: 34862210

Variant Present in the following documents:

• Main text
• 268527_2_supp_7525223_r2sknd.pdf
• 352.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: BIVM-ERCC5: D1558H

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Association between polymorphisms rs2228001 and rs2228000 in XPC and genetic susceptibility to preeclampsia: a case control study.

Bmc Pregnancy And Childbirth

Wang, Jingli J; Guan, Chengcheng C; Sui, Jing J; Zang, Yucui Y; Wu, Yuwen Y; Zhang, Ru R; Qi, Xiaoying X; Piao, Shunfu S

Publication Date: 2021-11-22

Variant appearance in text: rs17655

PubMed Link: 34802422

Variant Present in the following documents:

• Main text
• 12884_2021_Article_4242.pdf

View BVdb publication page

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Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk.

Frontiers In Molecular Biosciences

Li, Xiaoying X; Wu, Qijun Q; Zhou, Baosen B; Liu, Yashu Y; Lv, Jiale J; Chang, Qing Q; Zhao, Yuhong Y

Publication Date: 2021

Variant appearance in text: rs17655

PubMed Link: 34540891

Variant Present in the following documents:

• Main text
• fmolb-08-687105.pdf

View BVdb publication page

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs17655

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ERCC5: 3310G>C; Asp1104His; rs17655

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis.

Bmc Cancer

Hoxhaj, Ilda I; Vukovic, Vladimir V; Boccia, Stefania S; Pastorino, Roberta R

Publication Date: 2021-06-02

Variant appearance in text: rs17655

PubMed Link: 34078296

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: BIVM-ERCC5: 4672G>C; Asp1558His; rs17655

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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XPG is Modulated by miR-4715-3p and rs873601 Genotypes in Lung Cancer.

Cancer Management And Research

Yu, WeiLing W; Yao, JinJian J; Lyu, Pengfei P; Zhou, Jing J; Chen, Xiaoxi X; Liu, Xiaoran X; Xiao, Sha S

Publication Date: 2021

Variant appearance in text: rs17655

PubMed Link: 33907465

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: ERCC5: Asp1104His; rs17655

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ERCC5: 3310G>C; D1104H; rs17655

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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The Association of Single-Nucleotide Polymorphism rs13181 in ERCC2 with Risk and Prognosis of Nasopharyngeal Carcinoma in an Endemic Chinese Population.

Pharmacogenomics And Personalized Medicine

Wei, Zhengbo Z; Yao, Mengwei M; Ning, Sisi S; Wu, Yuan Y; Zhou, Xunzhao X; Zhong, Changtao C; Yan, Kui K; Xie, Ying Y

Publication Date: 2021

Variant appearance in text: ERCC5: Asp1104His

PubMed Link: 33762840

Variant Present in the following documents:

• pgpm-14-359.pdf

View BVdb publication page

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Clonal evolution in chronic lymphocytic leukemia is scant in relapsed but accelerated in refractory cases after chemo(immune) therapy.

Haematologica

Zapatka, Marc M; Tausch, Eugen E; Öztürk, Selcen S; Yosifov, Deyan Yordanov DY; Seiffert, Martina M; Zenz, Thorsten T; Schneider, Christof C; Blöhdorn, Johannes J; Döhner, Hartmut H; Mertens, Daniel D; Lichter, Peter P; Stilgenbauer, Stephan S

Publication Date: 2022-03-01

Variant appearance in text: ERCC5: D1104H; rs17655

PubMed Link: 33691380

Variant Present in the following documents:

• 2020_265777_ZAPATKA_TABS4.xlsx, sheet 1

View BVdb publication page

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XAB2 TagSNP Is Associated with the Risk of Gastric Cancer in Chinese Population: A Case-Control Study.

International Journal Of Environmental Research And Public Health

Xie, Yuning Y; Yu, Yuan Y; Wu, Hongjiao H; Gao, Hui H; Yang, Zhenbang Z; Zhang, Yi Y; Zhang, Xuemei X

Publication Date: 2021-02-04

Variant appearance in text: rs17655

PubMed Link: 33557438

Variant Present in the following documents:

• Main text
• ijerph-18-01494.pdf

View BVdb publication page

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Risk Factors and Genetic Biomarkers of Multiple Primary Cancers in Esophageal Cancer Patients.

Frontiers In Oncology

Yang, Pei-Wen PW; Lin, Mei-Chun MC; Huang, Pei-Ming PM; Wang, Cheng-Ping CP; Chen, Tseng-Cheng TC; Chen, Chun-Nan CN; Tsai, Mong-Hsun MH; Cheng, Jason Chia-Hsien JC; Chuang, Eric Y EY; Hsieh, Min-Shu MS; Lou, Pei-Jen PJ; Lee, Jang-Ming JM

Publication Date: 2020

Variant appearance in text: ERCC5: Asp1104His; rs17655

PubMed Link: 33552962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: BIVM-ERCC5: 4672G>C; D1558H; rs17655

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics

Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ

Publication Date: 2020

Variant appearance in text: ERCC5: Asp1104His

PubMed Link: 33281875

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 7

View BVdb publication page

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Genetic Variants in DNA Repair Pathways as Potential Biomarkers in Predicting Treatment Outcome of Intraperitoneal Chemotherapy in Patients With Colorectal Peritoneal Metastasis: A Systematic Review.

Frontiers In Pharmacology

Hulshof, Emma C EC; Lim, Lifani L; de Hingh, Ignace H J T IHJT; Gelderblom, Hans H; Guchelaar, Henk-Jan HJ; Deenen, Maarten J MJ

Publication Date: 2020

Variant appearance in text: ERCC5: 3310G>C; rs17655

PubMed Link: 33117169

Variant Present in the following documents:

• Main text
• fphar-11-577968.pdf

View BVdb publication page

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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: rs17655

PubMed Link: 33116759

Variant Present in the following documents:

• Main text

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: BIVM-ERCC5: 4672G>C; Asp1558His

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs17655

PubMed Link: 33029487

Variant Present in the following documents:

• BMRI2020-1207809.pdf

View BVdb publication page

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: ERCC5: 3310G>C; Asp1104His; rs17655

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Dataset on the effect of Benzene exposure on genetic damage, hematotoxicity, telomere length and polymorphisms in metabolic and DNA repair genes.

Data In Brief

Ren, Jing-Chao JC; Liu, Huan H; Zhang, Guang-Hui GH; Wang, Tongshuai T; Li, Jingzhi J; Dong, Tingting T; Wu, Hantian H; Xia, Zhao-Lin ZL

Publication Date: 2020-08

Variant appearance in text: rs17655

PubMed Link: 32637486

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International

Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2020

Variant appearance in text: BIVM-ERCC5: D1558H; rs17655

PubMed Link: 32624706

Variant Present in the following documents:

• 12935_2020_1373_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs17655

PubMed Link: 32546699

Variant Present in the following documents:

• Main text
• 41397_2020_Article_174.pdf

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: BIVM-ERCC5: D1558H; rs17655

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: ERCC5: 3310G>C; D1104H; rs17655

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: ERCC5: 3310G>C; Asp1104His

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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Radon Biomonitoring and microRNA in Lung Cancer.

International Journal Of Molecular Sciences

Bersimbaev, Rakhmet R; Pulliero, Alessandra A; Bulgakova, Olga O; Asia, Kussainova K; Aripova, Akmara A; Izzotti, Alberto A

Publication Date: 2020-03-20

Variant appearance in text: rs17655

PubMed Link: 32245099

Variant Present in the following documents:

• Main text
• ijms-21-02154.pdf

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An integrative analysis of genome-wide association study and regulatory SNP annotation datasets identified candidate genes for bipolar disorder.

International Journal Of Bipolar Disorders

Qi, Xin X; Wen, Yan Y; Li, Ping P; Liang, Chujun C; Cheng, Bolun B; Ma, Mei M; Cheng, Shiqiang S; Zhang, Lu L; Liu, Li L; Kafle, Om Prakash OP; Zhang, Feng F

Publication Date: 2020-02-03

Variant appearance in text: rs17655

PubMed Link: 32009227

Variant Present in the following documents:

• Main text
• 40345_2019_Article_170.pdf

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Exonic Variants in Aging-Related Genes Are Predictive of Phenotypic Aging Status.

Frontiers In Genetics

Breitbach, Megan E ME; Greenspan, Susan S; Resnick, Neil M NM; Perera, Subashan S; Gurkar, Aditi U AU; Absher, Devin D; Levine, Arthur S AS

Publication Date: 2019

Variant appearance in text: rs17655

PubMed Link: 31921313

Variant Present in the following documents:

• Main text

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