WRN c.4099T>C ;(p.C1367R)

Variant ID: 8-31024654-T-C

NM_000553.4(WRN):c.4099T>C;(p.C1367R)

This variant was identified in 92 publications

View GRCh38 version.




Publications:


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: WRN: C1367R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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: WRN: 4099T>C; Cys1367Arg
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: WRN: 4099T>C; Cys1367Arg; rs1346044
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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: rs1346044
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.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: WRN: C1367R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences
Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT
Publication Date: 2022

Variant appearance in text: WRN: C1367R
PubMed Link: 36213130
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 10
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: WRN: C1367R
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
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: WRN: 4099T>C; C1367R; rs1346044
PubMed Link: 35925403
Variant Present in the following documents:
  • 401_2022_2473_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



RecQ Helicase Somatic Alterations in Cancer.

Frontiers In Molecular Biosciences
Thakkar, Megha K MK; Lee, Jamie J; Meyer, Stefan S; Chang, Vivian Y VY
Publication Date: 2022

Variant appearance in text: WRN: C1367R
PubMed Link: 35782872
Variant Present in the following documents:
  • Main text
  • fmolb-09-887758.pdf
View BVdb publication page



Double-layer omics analysis of castration- and X-ray-resistant prostate cancer cells.

Journal Of Radiation Research
Iwanaga, Mototaro M; Kawamura, Hidemasa H; Kubo, Nobuteru N; Mizukami, Tatsuji T; Oike, Takahiro T; Sato, Hiro H; Miyazawa, Yoshiyuki Y; Sekine, Yoshitaka Y; Kawabata-Iwakawa, Reika R; Nishiyama, Masahiko M; Ohno, Tatsuya T; Nakano, Takashi T
Publication Date: 2022-07-19

Variant appearance in text: WRN: 4099T>C; Cys1367Arg; rs1346044
PubMed Link: 35589101
Variant Present in the following documents:
  • s1_table_rrac022.xlsx, sheet 1
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: WRN: C1367R
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs1346044
PubMed Link: 34295994
Variant Present in the following documents:
  • Main text
  • HSR2-4-e327.pdf
View BVdb publication page



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: 4099T>C; C1367R; rs1346044
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
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family.

Frontiers In Oncology
Norouzi, Mahnaz M; Shafiei, Mohammad M; Abdollahi, Zeinab Z; Miar, Paniz P; Galehdari, Hamid H; Emami, Mohammad Hasan MH; Zeinalian, Mehrdad M; Tabatabaiefar, Mohammad Amin MA
Publication Date: 2021

Variant appearance in text: rs1346044
PubMed Link: 34164337
Variant Present in the following documents:
  • Main text
  • fonc-11-648649.pdf
View BVdb publication page



Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine
Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y
Publication Date: 2021-01

Variant appearance in text: WRN: C1367R; rs1346044
PubMed Link: 33463056
Variant Present in the following documents:
  • CTM2-11-e285-s003.xlsx, sheet 24
  • CTM2-11-e285-s003.xlsx, sheet 10
View BVdb publication page



Rare case of apatinib acquired resistance induced by point mutation of WRN p.V697F through activation of the PI3K/AKT apoptosis-inhibiting pathway.

Thoracic Cancer
Yu, Ruofei R; Bai, Hua H; Gao, Bingyu B; Li, Tangai T; He, Xiran X; Zhang, Pei P; Wang, Jie J
Publication Date: 2021-01

Variant appearance in text: WRN: Cys1367Arg
PubMed Link: 33225619
Variant Present in the following documents:
  • TCA-12-128.pdf
View BVdb publication page



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: WRN: 4099T>C; Cys1367Arg
PubMed Link: 32867815
Variant Present in the following documents:
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



WRN inhibits oxidative stress-induced apoptosis of human lensepithelial cells through ATM/p53 signaling pathway and its expression is downregulated by DNA methylation.

Molecular Medicine (Cambridge, Mass.)
Jiang, Shengqun S; Chen, Jiansu J
Publication Date: 2020-07-08

Variant appearance in text: rs1346044
PubMed Link: 32640976
Variant Present in the following documents:
  • Main text
  • 10020_2020_Article_187.pdf
View BVdb publication page



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: 4099T>C; Cys1367Arg
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Deconvolution of the Genomic and Epigenomic Interaction Landscape of Triple-Negative Breast Cancer.

Cancers
Wu, Jiande J; Mamidi, Tarun Karthik Kumar TKK; Zhang, Lu L; Hicks, Chindo C
Publication Date: 2019-10-31

Variant appearance in text: rs1346044
PubMed Link: 31683572
Variant Present in the following documents:
  • Main text
  • cancers-11-01692.pdf
View BVdb publication page



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: 4099T>C; Cys1367Arg; rs1346044
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: WRN: C1367R; rs1346044
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Associations of mRNA expression of DNA repair genes and genetic polymorphisms with cancer risk: a bioinformatics analysis and meta-analysis.

Journal Of Cancer
Wu, Huizhe H; Li, Shanqiong S; Hu, Xiaoyun X; Qin, Wenyan W; Wang, Yilin Y; Sun, Tong T; Wu, Zhikun Z; Wang, Xiufang X; Lu, Senxu S; Xu, Dongping D; Li, Yalun Y; Guan, Shu S; Zhao, Haishan H; Yao, Weifan W; Liu, Mingyan M; Wei, Minjie M
Publication Date: 2019

Variant appearance in text: WRN: Cys1367Arg; rs1346044
PubMed Link: 31333776
Variant Present in the following documents:
  • Main text
  • jcav10p3593.pdf
View BVdb publication page



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: 4099T>C; Cys1367Arg
PubMed Link: 31205508
Variant Present in the following documents:
  • Supplemental_Table_3.xlsx, sheet 1
View BVdb publication page



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: 4099T>C; Cys1367Arg
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: C1367R; rs1346044
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



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: WRN: 4099T>C; rs1346044
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Modeling Gene-Environment Interaction for the Risk of Non-hodgkin Lymphoma.

Frontiers In Oncology
Zhang, Jiahui J; Ye, Xibiao X; Wu, Cuie C; Fu, Hua H; Xu, Wei W; Hu, Pingzhao P
Publication Date: 2018

Variant appearance in text: rs1346044
PubMed Link: 30693270
Variant Present in the following documents:
  • Main text
  • fonc-08-00657.pdf
View BVdb publication page



Polymorphisms in DNA repair pathway genes and ABCG2 gene in advanced colorectal cancer: correlation with tumor characteristics and clinical outcome in oxaliplatin-based chemotherapy.

Cancer Management And Research
Hu, Xiaoyun X; Qin, Wenyan W; Li, Shanqiong S; He, Miao M; Wang, Yilin Y; Guan, Shu S; Zhao, Haishan H; Yao, Weifan W; Wei, Minjie M; Liu, Mingyan M; Wu, Huizhe H
Publication Date: 2019

Variant appearance in text: WRN: Cys1367Arg; rs1346044
PubMed Link: 30643454
Variant Present in the following documents:
  • Main text
  • CMAR-11-285-181922.pdf
  • cmar-11-285.pdf
View BVdb publication page



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: C1367R; rs1346044
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: WRN: 4099T>C; Cys1367Arg; rs1346044
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: WRN: 4099T>C; Cys1367Arg
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis.

Oncotarget
Benna, Clara C; Simioni, Andrea A; Pasquali, Sandro S; De Boni, Davide D; Rajendran, Senthilkumar S; Spiro, Giovanna G; Colombo, Chiara C; Virgone, Calogero C; DuBois, Steven G SG; Gronchi, Alessandro A; Rossi, Carlo Riccardo CR; Mocellin, Simone S
Publication Date: 2018-04-06

Variant appearance in text: rs1346044
PubMed Link: 29719630
Variant Present in the following documents:
  • oncotarget-09-18607.pdf
View BVdb publication page



Allelic interaction effects of DNA damage and repair genes on the predisposition to age-related cataract.

Plos One
Yang, Mei M; Zhang, Junfang J; Su, Shu S; Qin, Bai B; Kang, Lihua L; Zhu, Rongrong R; Guan, Huaijin H
Publication Date: 2018

Variant appearance in text: rs1346044
PubMed Link: 29689049
Variant Present in the following documents:
  • Main text
  • pone.0184478.pdf
View BVdb publication page



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: C1367R
PubMed Link: 29649263
Variant Present in the following documents:
  • pone.0195761.s004.xlsx, sheet 1
View BVdb publication page



Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget
Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D
Publication Date: 2017-12-01

Variant appearance in text: WRN: C1367R
PubMed Link: 29285300
Variant Present in the following documents:
  • oncotarget-08-105882-s002.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: WRN: C1367R; rs1346044
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Recent Advances in Understanding Werner Syndrome.

F1000Research
Shamanna, Raghavendra A RA; Croteau, Deborah L DL; Lee, Jong-Hyuk JH; Bohr, Vilhelm A VA
Publication Date: 2017

Variant appearance in text: WRN: Cys1367Arg
PubMed Link: 29043077
Variant Present in the following documents:
  • Main text
  • f1000research-6-13105.pdf
View BVdb publication page



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: 4099T>C; Cys1367Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: C1367R; rs1346044
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
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Association Between XRCC1 and WRN as Genetic Markers of Stability and Susceptibility to Cancer in Patients with HIV/AIDS and Cancer: a Cross-Sectional Study

Asian Pacific Journal Of Cancer Prevention : Apjcp
Maldonado, Gabriel de Carvalho Gde C; Terra Júnior, Orlando Nascimento ON; Arnóbio, Adriano A; Alfradique, Guilherme Rohem GR; Ornellas, Maria Helena MH; da Silva, Roberto Irineu RI; de Lima, Dirce Bonfim DB
Publication Date: 2017-03-01

Variant appearance in text: WRN: Cys1367Arg
PubMed Link: 28440612
Variant Present in the following documents:
  • Main text
  • APJCP-18-615.pdf
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Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

3 Biotech
Rawal, Rakesh M RM; Joshi, Madhvi N MN; Bhargava, Poonam P; Shaikh, Inayat I; Pandit, Aanal S AS; Patel, Riddhi P RP; Patel, Shanaya S; Kothari, Kiran K; Shah, Manoj M; Saxena, Akshay A; Bagatharia, Snehal B SB
Publication Date: 2015-10

Variant appearance in text: WRN: C1367R
PubMed Link: 28324520
Variant Present in the following documents:
  • 13205_2014_267_MOESM1_ESM.xlsx, sheet 2
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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: C1367R
PubMed Link: 28276523
Variant Present in the following documents:
  • Main text
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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: rs1346044
PubMed Link: 28253266
Variant Present in the following documents:
  • Main text
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Different non-synonymous polymorphisms modulate the interaction of the WRN protein to its protein partners and its enzymatic activities.

Oncotarget
Gagné, Jean-Philippe JP; Lachapelle, Sophie S; Garand, Chantal C; Tsofack, Serges P SP; Coulombe, Yan Y; Caron, Marie-Christine MC; Poirier, Guy G GG; Masson, Jean-Yves JY; Lebel, Michel M
Publication Date: 2016-12-27

Variant appearance in text: WRN: Cys1367Arg; rs1346044
PubMed Link: 27863399
Variant Present in the following documents:
  • Main text
  • oncotarget-07-85680.pdf
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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: C1367R; rs1346044
PubMed Link: 27667302
Variant Present in the following documents:
  • Main text
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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: WRN: C1367R; rs1346044
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
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Manipulation of DNA Repair Proficiency in Mouse Models of Colorectal Cancer.

Biomed Research International
Mcilhatton, Michael A MA; Boivin, Gregory P GP; Groden, Joanna J
Publication Date: 2016

Variant appearance in text: WRN: Cys1367Arg
PubMed Link: 27413734
Variant Present in the following documents:
  • Main text
  • BMRI2016-1414383.pdf
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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: WRN: C1367R
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
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A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2016-01

Variant appearance in text: WRN: C1367R; rs1346044
PubMed Link: 27148581
Variant Present in the following documents:
  • supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1
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Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.

International Journal Of Molecular Sciences
Zins, Karin K; Frech, Barbara B; Taubenschuss, Eva E; Schneeberger, Christian C; Abraham, Dietmar D; Schreiber, Martin M
Publication Date: 2015-12-10

Variant appearance in text: RECQL2: 4099T>C; rs1346044
PubMed Link: 26690424
Variant Present in the following documents:
  • Main text
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