Publications:

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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: BIVM-ERCC5: C983S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_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: rs2227869

PubMed Link: 36033436

Variant Present in the following documents:

• Table_3.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: rs2227869

PubMed Link: 35069899

Variant Present in the following documents:

• Main text
• jcav13p0517.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: 1586G>C; Cys529Ser; rs2227869

PubMed Link: 34253785

Variant Present in the following documents:

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

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: 1586G>C; Cys529Ser

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: ERCC5: 1586G>C; Cys529Ser

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 4

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: BIVM-ERCC5: 2948G>C; C983S; rs2227869

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Chinese Medical Journal

Liu, Shuang S; You, Yan Y; Chen, Dan D; Qian, Jia-Ming JM; Li, Ji J

Publication Date: 2019-12-20

Variant appearance in text: BIVM-ERCC5: C983S; rs2227869

PubMed Link: 31764169

Variant Present in the following documents:

• cm9-132-3001-s001.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: BIVM-ERCC5: C983S; rs2227869

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.

Genes

Santos, Luís S LS; Gomes, Bruno Costa BC; Bastos, Hélder N HN; Gil, Octávia M OM; Azevedo, Ana Paula AP; Ferreira, Teresa C TC; Limbert, Edward E; Silva, Susana N SN; Rueff, José J

Publication Date: 2019-08-01

Variant appearance in text: ERCC5: Cys529Ser; rs2227869

PubMed Link: 31374908

Variant Present in the following documents:

• Main text
• genes-10-00586.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ERCC5: 1586G>C; Cys529Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs2227869

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2227869

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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ERCC5 rs751402 polymorphism is the risk factor for sporadic breast cancer in Thailand.

International Journal Of Molecular Epidemiology And Genetics

Pongsavee, Malinee M; Wisuwan, Kamol K

Publication Date: 2018

Variant appearance in text: rs2227869

PubMed Link: 30245779

Variant Present in the following documents:

• Main text

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: ERCC5: 1586G>C; C529S; rs2227869

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: ERCC5: C529S

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s005.xlsx, sheet 1

View BVdb publication page

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The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: ERCC5: 1586G>C; Cys529Ser; rs2227869

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

View BVdb publication page

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Impact of SNP-SNP interactions of DNA repair gene ERCC5 and metabolic gene GSTP1 on gastric cancer/atrophic gastritis risk in a Chinese population.

World Journal Of Gastroenterology

Sang, Liang L; Lv, Zhi Z; Sun, Li-Ping LP; Xu, Qian Q; Yuan, Yuan Y

Publication Date: 2018-02-07

Variant appearance in text: rs2227869

PubMed Link: 29434449

Variant Present in the following documents:

• Main text
• WJG-24-602.pdf

View BVdb publication page

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Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Frontiers In Pharmacology

Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS

Publication Date: 2017

Variant appearance in text: BIVM-ERCC5: C983S; rs2227869

PubMed Link: 28993730

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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A Case Report Demonstrating the Potential Clinical Benefit of Exhaustive Molecular Profiling in an Aggressive Muscle-Invasive High-Grade Metastatic Urothelial Carcinoma.

Case Reports In Oncology

Ramírez de Olano, Amaya A; Bellmunt, Joaquim J; Rodrigo, Ana A; Álvarez, Luis L; Terrádez, Adriana A; García-Foncillas, Jesús J; Laes, Jean-François JF

Publication Date: 2017

Variant appearance in text: ERCC5: C529S

PubMed Link: 28690523

Variant Present in the following documents:

• Main text
• cro-0010-0493.pdf

View BVdb publication page

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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: ERCC5: C529S; rs2227869

PubMed Link: 28499365

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3314.pdf
• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: BIVM-ERCC5: C983S; rs2227869

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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XPG gene polymorphisms and cancer susceptibility: evidence from 47 studies.

Oncotarget

Huang, Jiawen J; Liu, Xiaoqi X; Tang, Ling-Ling LL; Long, Jian-Ting JT; Zhu, Jinhong J; Hua, Rui-Xi RX; Li, Jufeng J

Publication Date: 2017-06-06

Variant appearance in text: rs2227869

PubMed Link: 28416771

Variant Present in the following documents:

• Main text
• oncotarget-08-37263.pdf

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: BIVM-ERCC5: C983S; rs2227869

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

View BVdb publication page

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Re-evaluation of the WHO (2010) formaldehyde indoor air quality guideline for cancer risk assessment.

Archives Of Toxicology

Nielsen, Gunnar Damgård GD; Larsen, Søren Thor ST; Wolkoff, Peder P

Publication Date: 2017-01

Variant appearance in text: rs2227869

PubMed Link: 27209488

Variant Present in the following documents:

• Main text
• 204_2016_Article_1733.pdf

View BVdb publication page

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No Association between Variation in Longevity Candidate Genes and Aging-related Phenotypes in Oldest-old Danes.

Experimental Gerontology

Soerensen, Mette M; Nygaard, Marianne M; Debrabant, Birgit B; Mengel-From, Jonas J; Dato, Serena S; Thinggaard, Mikael M; Christensen, Kaare K; Christiansen, Lene L

Publication Date: 2016-06

Variant appearance in text: rs2227869

PubMed Link: 26946122

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between XPG polymorphisms and stomach cancer susceptibility in a Chinese population.

Journal Of Cellular And Molecular Medicine

Chen, Yun-Zhi YZ; Guo, Fang F; Sun, Hong-Wei HW; Kong, Hong-Ru HR; Dai, Sheng-Jie SJ; Huang, Shi-Hao SH; Zhu, Wen-Wei WW; Yang, Wen-Jun WJ; Zhou, Meng-Tao MT

Publication Date: 2016-05

Variant appearance in text: rs2227869

PubMed Link: 26820236

Variant Present in the following documents:

• Main text
• JCMM-20-903.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2227869

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ERCC5: C529S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs2227869

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 2

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs2227869

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: ERCC5: C529S

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.

Molecular Biology Reports

Paszkowska-Szczur, Katarzyna K; Scott, Rodney J RJ; Górski, Bohdan B; Cybulski, Cezary C; Kurzawski, Grzegorz G; Dymerska, Dagmara D; Gupta, Satish S; van de Wetering, Thierry T; Masojć, Bartłomiej B; Kashyap, Aniruddh A; Gapska, Paulina P; Gromowski, Tomasz T; Kładny, Józef J; Lubiński, Jan J; Dębniak, Tadeusz T

Publication Date: 2015-03

Variant appearance in text: rs2227869

PubMed Link: 25391773

Variant Present in the following documents:

• Main text
• 11033_2014_Article_3824.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ERCC5: C529S; rs2227869

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: ERCC5: C529S

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs2227869

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: BIVM-ERCC5: C983S; rs2227869

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 3
• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Polymorphisms of nucleotide excision repair genes predict melanoma survival.

The Journal Of Investigative Dermatology

Li, Chunying C; Yin, Ming M; Wang, Li-E LE; Amos, Christopher I CI; Zhu, Dakai D; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Grimm, Elizabeth A EA; Wei, Qingyi Q

Publication Date: 2013-07

Variant appearance in text: rs2227869

PubMed Link: 23407396

Variant Present in the following documents:

• Main text
• nihms425831.pdf

View BVdb publication page

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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: rs2227869

PubMed Link: 22493747

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck.

Pharmacogenetics And Genomics

Ma, Hongxia H; Yu, Hongping H; Liu, Zhensheng Z; Wang, Li-E LE; Sturgis, Erich M EM; Wei, Qingyi Q

Publication Date: 2012-01

Variant appearance in text: ERCC5: C529S; rs2227869

PubMed Link: 22108238

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights

Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE

Publication Date: 2010-10-11

Variant appearance in text: ERCC5: C529S

PubMed Link: 20981267

Variant Present in the following documents:

• BBI-4-supplementary.xls, sheet 3

View BVdb publication page

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Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China.

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

Hussain, Shehnaz K SK; Mu, Li-Na LN; Cai, Lin L; Chang, Shen-Chih SC; Park, Sungshim Lani SL; Oh, Sam S SS; Wang, Yiren Y; Goldstein, Binh Y BY; Ding, Bao-Guo BG; Jiang, Qingwu Q; Rao, Jianyu J; You, Nai-Chieh Y NC; Yu, Shun-Zhang SZ; Papp, Jeanette C JC; Zhao, Jin-Kou JK; Wang, Hua H; Zhang, Zuo-Feng ZF

Publication Date: 2009-08

Variant appearance in text: rs2227869

PubMed Link: 19661089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: ERCC5: C529S; rs2227869

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

View BVdb publication page

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Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

Mutation Research

Zhu, Yong Y; Hoffman, Aaron A; Wu, Xifeng X; Zhang, Heping H; Zhang, Yawei Y; Leaderer, Derek D; Zheng, Tongzhang T

Publication Date: 2008-03-01

Variant appearance in text: rs2227869

PubMed Link: 18191955

Variant Present in the following documents:

• Main text

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