Publications:

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: WRN: V114I; rs2230009

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 7
• can-22-2224_table_s8_suppst8.xlsx, sheet 19

View BVdb publication page

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Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors.

Journal Of Translational Medicine

Wong, Kwong-Kwok KK; Bateman, Nicholas W NW; Ng, Chun Wai CW; Tsang, Yvonne T M YTM; Sun, Charlotte S CS; Celestino, Joseph J; Nguyen, Tri V TV; Malpica, Anais A; Hillman, R Tyler RT; Zhang, Jianhua J; Futreal, P Andrew PA; Rojas, Christine C; Conrads, Kelly A KA; Hood, Brian L BL; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Phippen, Neil T NT; Conrads, Thomas P TP; Maxwell, George L GL; Sood, Anil K AK; Gershenson, David M DM

Publication Date: 2022-12-17

Variant appearance in text: WRN: 340G>A

PubMed Link: 36528667

Variant Present in the following documents:

• 12967_2022_3820_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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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: WRN: V114I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: WRN: Val114Ile; rs2230009

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

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: rs2230009

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: WRN: 340G>A; V114I; rs2230009

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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: WRN: 340G>A; V114I; rs2230009

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers

Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2020-07-21

Variant appearance in text: rs2230009

PubMed Link: 32708070

Variant Present in the following documents:

• Main text
• cancers-12-01981.pdf

View BVdb publication page

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A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Kolinsky, M P MP; Rescigno, P P; Bianchini, D D; Zafeiriou, Z Z; Mehra, N N; Mateo, J J; Michalarea, V V; Riisnaes, R R; Crespo, M M; Figueiredo, I I; Miranda, S S; Nava Rodrigues, D D; Flohr, P P; Tunariu, N N; Banerji, U U; Ruddle, R R; Sharp, A A; Welti, J J; Lambros, M M; Carreira, S S; Raynaud, F I FI; Swales, K E KE; Plymate, S S; Luo, J J; Tovey, H H; Porta, N N; Slade, R R; Leonard, L L; Hall, E E; de Bono, J S JS

Publication Date: 2020-05

Variant appearance in text: WRN: V114I

PubMed Link: 32205016

Variant Present in the following documents:

• mmc9.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: WRN: 340G>A; Val114Ile

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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: WRN: 340G>A; V114I; rs2230009

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut

Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J

Publication Date: 2020-08

Variant appearance in text: WRN: V114I; rs2230009

PubMed Link: 31818908

Variant Present in the following documents:

• gutjnl-2019-319313supp002.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: WRN: 340G>A; Val114Ile; rs2230009

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.

Hereditary Cancer In Clinical Practice

Buckingham, Lela L; Mitchell, Rachel R; Maienschein-Cline, Mark M; Green, Stefan S; Hu, Vincent Hong VH; Cobleigh, Melody M; Rotmensch, Jacob J; Burgess, Kelly K; Usha, Lydia L

Publication Date: 2019

Variant appearance in text: WRN: V114I

PubMed Link: 31346352

Variant Present in the following documents:

• Main text
• 13053_2019_Article_117.pdf

View BVdb publication page

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Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.

Therapeutic Advances In Medical Oncology

Liu, Feiyang F; Zou, Fengming F; Chen, Cheng C; Yu, Kailin K; Liu, Xiaochuan X; Qi, Shuang S; Wu, Jiaxin J; Hu, Chen C; Hu, Zhenquan Z; Liu, Juan J; Liu, Xuesong X; Wang, Li L; Ge, Juan J; Wang, Wenchao W; Ren, Tao T; Bai, Mingfeng M; Cai, Yujiao Y; Xiao, Xudong X; Qian, Feng F; Tang, Jun J; Liu, Qingsong Q; Liu, Jing J

Publication Date: 2019

Variant appearance in text: WRN: 340G>A; Val114Ile

PubMed Link: 31205508

Variant Present in the following documents:

• Supplemental_Table_3.xlsx, sheet 1

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: WRN: 340G>A; Val114Ile

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: WRN: V114I; rs2230009

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: WRN: V114I; rs2230009

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: WRN: V114I

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s004.xlsx, sheet 1
• pone.0195761.s005.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: WRN: 340G>A; Val114Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: WRN: V114I

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.

Scientific Reports

Kamath-Loeb, Ashwini S AS; Zavala-van Rankin, Diego G DG; Flores-Morales, Jeny J; Emond, Mary J MJ; Sidorova, Julia M JM; Carnevale, Alessandra A; Cárdenas-Cortés, Maria Del Carmen MD; Norwood, Thomas H TH; Monnat, Raymond J RJ; Loeb, Lawrence A LA; Mercado-Celis, Gabriela E GE

Publication Date: 2017-03-09

Variant appearance in text: WRN: V114I

PubMed Link: 28276523

Variant Present in the following documents:

• Main text
• srep44081.pdf

View BVdb publication page

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Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis.

Plos One

Wu, Xiaohang X; Lai, Weiyi W; Lin, Haotian H; Liu, Yizhi Y

Publication Date: 2017

Variant appearance in text: rs2230009

PubMed Link: 28253266

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: WRN: 340G>A

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Human Mutation

Yokote, Koutaro K; Chanprasert, Sirisak S; Lee, Lin L; Eirich, Katharina K; Takemoto, Minoru M; Watanabe, Aki A; Koizumi, Naoko N; Lessel, Davor D; Mori, Takayasu T; Hisama, Fuki M FM; Ladd, Paula D PD; Angle, Brad B; Baris, Hagit H; Cefle, Kivanc K; Palanduz, Sukru S; Ozturk, Sukru S; Chateau, Antoinette A; Deguchi, Kentaro K; Easwar, T K M TK; Federico, Antonio A; Fox, Amy A; Grebe, Theresa A TA; Hay, Beverly B; Nampoothiri, Sheela S; Seiter, Karen K; Streeten, Elizabeth E; Piña-Aguilar, Raul E RE; Poke, Gemma G; Poot, Martin M; Posmyk, Renata R; Martin, George M GM; Kubisch, Christian C; Schindler, Detlev D; Oshima, Junko J

Publication Date: 2017-01

Variant appearance in text: WRN: V114I; rs2230009

PubMed Link: 27667302

Variant Present in the following documents:

• Main text

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: rs2230009

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data.

Genes, Brain, And Behavior

Saad, M M; Brkanac, Z Z; Wijsman, E M EM

Publication Date: 2015-11

Variant appearance in text: rs2230009

PubMed Link: 26394601

Variant Present in the following documents:

• Main text

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: WRN: V114I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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: WRN: 340G>A; V114I; rs2230009

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-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: WRN: V114I; rs2230009

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: WRN: V114I; rs2230009

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2

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: WRN: V114I; rs2230009

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: WRN: V114I; rs2230009

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

American Journal Of Hematology

Chen, Yingtai Y; Zheng, Tongzhang T; Lan, Qing Q; Kim, Christopher C; Qin, Qin Q; Foss, Francine F; Chen, Xuezhong X; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Wang, Chengfeng C; Dai, Min M; Liu, Zhenjiang Z; Ma, Shuangge S; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2013-07

Variant appearance in text: WRN: Val114Ile

PubMed Link: 23619945

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-related cataract in a Han Chinese population.

Age (Dordrecht, Netherlands)

Jiang, Shengqun S; Hu, Nan N; Zhou, Jing J; Zhang, Junfang J; Gao, Ruifang R; Hu, Jianyan J; Guan, Huaijin H

Publication Date: 2013-12

Variant appearance in text: rs2230009

PubMed Link: 23334603

Variant Present in the following documents:

• Main text

View BVdb publication page

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Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Jiao, Jie J; Zheng, Tongzhang T; Lan, Qing Q; Chen, Yingtai Y; Deng, Qian Q; Bi, Xiaofeng X; Kim, Christopher C; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Ba, Yue Y; Xia, Zhaolin Z; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2012-11

Variant appearance in text: rs2230009

PubMed Link: 22430443

Variant Present in the following documents:

• Main text

View BVdb publication page

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Werner syndrome gene variants in human sarcomas.

Molecular Carcinogenesis

Hsu, Jessica J JJ; Kamath-Loeb, Ashwini S AS; Glick, Eitan E; Wallden, Brett B; Swisshelm, Karen K; Rubin, Brian P BP; Loeb, Lawrence A LA

Publication Date: 2010-02

Variant appearance in text: WRN: 340G>A; V114I

PubMed Link: 19824023

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.

Carcinogenesis

Lan, Qing Q; Zhang, Luoping L; Shen, Min M; Jo, William J WJ; Vermeulen, Roel R; Li, Guilan G; Vulpe, Christopher C; Lim, Sophia S; Ren, Xuefeng X; Rappaport, Stephen M SM; Berndt, Sonja I SI; Yeager, Meredith M; Yuenger, Jeff J; Hayes, Richard B RB; Linet, Martha M; Yin, Songnian S; Chanock, Stephen S; Smith, Martyn T MT; Rothman, Nathaniel N

Publication Date: 2009-01

Variant appearance in text: rs2230009

PubMed Link: 18978339

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.

Leukemia

Wang, S S SS; Maurer, M J MJ; Morton, L M LM; Habermann, T M TM; Davis, S S; Cozen, W W; Lynch, C F CF; Severson, R K RK; Rothman, N N; Chanock, S J SJ; Hartge, P P; Cerhan, J R JR

Publication Date: 2009-03

Variant appearance in text: WRN: V114I

PubMed Link: 18830263

Variant Present in the following documents:

• Main text
• nihms278004.pdf

View BVdb publication page

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Genetic susceptibility to lymphoma.

Haematologica

Skibola, Christine F CF; Curry, John D JD; Nieters, Alexandra A

Publication Date: 2007-07

Variant appearance in text: WRN: Val114Ile

PubMed Link: 17606447

Variant Present in the following documents:

• Main text

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Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

Blood

Hill, Deirdre A DA; Wang, Sophia S SS; Cerhan, James R JR; Davis, Scott S; Cozen, Wendy W; Severson, Richard K RK; Hartge, Patricia P; Wacholder, Sholom S; Yeager, Meredith M; Chanock, Stephen J SJ; Rothman, Nathaniel N

Publication Date: 2006-11-01

Variant appearance in text: WRN: V114I

PubMed Link: 16857995

Variant Present in the following documents:

• Main text

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