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: MGMT: L115F

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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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: MGMT: L115F; rs12917

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

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: MGMT: 343C>T; Leu115Phe; rs12917

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: MGMT: 250C>T; Leu84Phe; rs12917

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: MGMT: L84F; rs12917

PubMed Link: 35802478

Variant Present in the following documents:

• Main text
• noac171.pdf
• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

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: rs12917

PubMed Link: 35069899

Variant Present in the following documents:

• Main text
• jcav13p0517.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: rs12917

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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Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.

The Pharmacogenomics Journal

Uppugunduri, C R S CRS; Huezo-Diaz Curtis, P P; Nava, T T; Rezgui, M A MA; Mlakar, V V; Mlakar, S Jurkovic SJ; Waespe, N N; Théoret, Y Y; Gumy-Pause, F F; Bernard, F F; Chalandon, Y Y; Boelens, J J JJ; Bredius, R G M RGM; Dalle, J H JH; Nath, C C; Corbacioglu, S S; Peters, C C; Bader, P P; Shaw, P P; Bittencourt, H H; Krajinovic, M M; Ansari, M M

Publication Date: 2022-02

Variant appearance in text: rs12917

PubMed Link: 34711928

Variant Present in the following documents:

• 41397_2021_Article_251.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: MGMT: 343C>T; L115F; rs12917

PubMed Link: 34054912

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: MGMT: 343C>T; L115F; rs12917

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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The Genetic Germline Background of Single and Multiple Primary Melanomas.

Frontiers In Molecular Biosciences

De Summa, Simona S; Lasorella, Antonia A; Strippoli, Sabino S; Giudice, Giuseppe G; Guida, Gabriella G; Elia, Rossella R; Nacchiero, Eleonora E; Azzariti, Amalia A; Silvestris, Nicola N; Guida, Michele M; Guida, Stefania S; Tommasi, Stefania S; Pinto, Rosamaria R

Publication Date: 2020

Variant appearance in text: MGMT: L115F

PubMed Link: 33748184

Variant Present in the following documents:

• Main text
• fmolb-07-555630.pdf

View BVdb publication page

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Familial Colorectal Cancer and Genetic Susceptibility: Colorectal Risk Variants in First-Degree Relatives of Patients With Colorectal Cancer.

Clinical And Translational Gastroenterology

Gargallo-Puyuelo, Carla J CJ; Lanas, Ángel Á; Carrera-Lasfuentes, Patricia P; Ferrández, Ángel Á; Quintero, Enrique E; Carrillo, Marta M; Alonso-Abreu, Inmaculada I; García-González, María Asunción MA

Publication Date: 2021-02-03

Variant appearance in text: MGMT: L115F; rs12917

PubMed Link: 33534415

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MGMT: 343C>T; Leu115Phe

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.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: MGMT: 343C>T; Leu115Phe

PubMed Link: 31894249

Variant Present in the following documents:

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

View BVdb publication page

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Comprehensive assessment of the association between XPC rs2228000 and cancer susceptibility based on 26835 cancer cases and 37069 controls.

Bioscience Reports

Dai, Yingqi Y; Song, Zhonghua Z; Zhang, Jinqing J; Gao, Wei W

Publication Date: 2019-12-20

Variant appearance in text: rs12917

PubMed Link: 31710080

Variant Present in the following documents:

• bsr-39-bsr20192452.pdf

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: MGMT: L115F; rs12917

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.

Frontiers In Genetics

Simba, Hannah H; Kuivaniemi, Helena H; Lutje, Vittoria V; Tromp, Gerard G; Sewram, Vikash V

Publication Date: 2019

Variant appearance in text: MGMT: Leu84Phe; rs12917

PubMed Link: 31428123

Variant Present in the following documents:

• Main text
• fgene-10-00642.pdf

View BVdb publication page

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Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Ebiomedicine

Visioli, Alberto A; Giani, Fabrizio F; Trivieri, Nadia N; Pracella, Riccardo R; Miccinilli, Elide E; Cariglia, Maria Grazia MG; Palumbo, Orazio O; Arleo, Andrea A; Dezi, Fabio F; Copetti, Massimiliano M; Cajola, Laura L; Restelli, Silvia S; Papa, Valerio V; Sciuto, Antonio A; Latiano, Tiziana Pia TP; Carella, Massimo M; Amadori, Dino D; Gallerani, Giulia G; Ricci, Riccardo R; Alfieri, Sergio S; Pesole, Graziano G; Vescovi, Angelo L AL; Binda, Elena E

Publication Date: 2019-06

Variant appearance in text: MGMT: 343C>T; L115F

PubMed Link: 31056474

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc1.xls, 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: MGMT: L115F; rs12917

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Recent Studies on DNA Adducts Resulting from Human Exposure to Tobacco Smoke.

Toxics

Ma, Bin B; Stepanov, Irina I; Hecht, Stephen S SS

Publication Date: 2019-03-19

Variant appearance in text: rs12917

PubMed Link: 30893918

Variant Present in the following documents:

• Main text
• toxics-07-00016.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: MGMT: L115F

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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The potential role of MGMT rs12917 polymorphism in cancer risk: an updated pooling analysis with 21010 cases and 34018 controls.

Bioscience Reports

Sheng, Zhiguo Z; Kang, Meini M; Wang, Hao H

Publication Date: 2018-10-31

Variant appearance in text: MGMT: Leu84Phe; rs12917

PubMed Link: 30232235

Variant Present in the following documents:

• Main text
• bsr-38-bsr20180942.pdf

View BVdb publication page

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The Interaction of Smoking with Gene Polymorphisms on Four Digestive Cancers: A Systematic Review and Meta-Analysis.

Journal Of Cancer

Du, Le L; Lei, Lei L; Zhao, Xiaojuan X; He, Hongjuan H; Chen, Erfei E; Dong, Jing J; Zeng, Yuan Y; Yang, Jin J

Publication Date: 2018

Variant appearance in text: rs12917

PubMed Link: 29721061

Variant Present in the following documents:

• jcav09p1506.pdf

View BVdb publication page

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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: MGMT: L115F; rs12917

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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The Association of Low-Penetrance Variants in DNA Repair Genes with Colorectal Cancer: A Systematic Review and Meta-Analysis.

Clinical And Translational Gastroenterology

Aggarwal, Nikhil N; Donald, Neil D ND; Malik, Salim S; Selvendran, Subothini S SS; McPhail, Mark Jw MJ; Monahan, Kevin J KJ

Publication Date: 2017-07-27

Variant appearance in text: rs12917

PubMed Link: 28749454

Variant Present in the following documents:

• ctg201735x1.pdf
• ctg201735a.pdf

View BVdb publication page

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Impact of DNA repair gene polymorphisms on the risk of biochemical recurrence after radiotherapy and overall survival in prostate cancer.

Oncotarget

Zanusso, Chiara C; Bortolus, Roberto R; Dreussi, Eva E; Polesel, Jerry J; Montico, Marcella M; Cecchin, Erika E; Gagno, Sara S; Rizzolio, Flavio F; Arcicasa, Mauro M; Novara, Giacomo G; Toffoli, Giuseppe G

Publication Date: 2017-04-04

Variant appearance in text: rs12917

PubMed Link: 28206966

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients.

International Journal Of Molecular Sciences

Dreussi, Eva E; Cecchin, Erika E; Polesel, Jerry J; Canzonieri, Vincenzo V; Agostini, Marco M; Boso, Caterina C; Belluco, Claudio C; Buonadonna, Angela A; Lonardi, Sara S; Bergamo, Francesca F; Gagno, Sara S; De Mattia, Elena E; Pucciarelli, Salvatore S; De Paoli, Antonino A; Toffoli, Giuseppe G

Publication Date: 2016-09-05

Variant appearance in text: rs12917

PubMed Link: 27608007

Variant Present in the following documents:

• Main text
• ijms-17-01482.pdf

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: MGMT: 343C>T; L115F; rs12917

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2
• 40246_2015_34_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: MGMT: L115F; rs12917

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: MGMT: L115F; rs12917

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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: MGMT: L115F

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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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: MGMT: L115F; rs12917

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: MGMT: L115F; rs12917

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2

View BVdb publication page

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Polymorphisms in DNA repair genes and MDR1 and the risk for non-Hodgkin lymphoma.

International Journal Of Molecular Sciences

Kim, Hee Nam HN; Kim, Nan Young NY; Yu, Li L; Kim, Yeo-Kyeoung YK; Lee, Il-Kwon IK; Yang, Deok-Hwan DH; Lee, Je-Jung JJ; Shin, Min-Ho MH; Park, Kyeong-Soo KS; Choi, Jin-Su JS; Kim, Hyeoung-Joon HJ

Publication Date: 2014-04-21

Variant appearance in text: MGMT: Leu115Phe

PubMed Link: 24756092

Variant Present in the following documents:

• Main text
• ijms-15-06703.pdf

View BVdb publication page

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: MGMT: L115F

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: MGMT: L115F; rs12917

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Molecular epidemiology of female lung cancer.

Cancers

Yim, Seon-Hee SH; Chung, Yeun-Jun YJ

Publication Date: 2011-04-01

Variant appearance in text: MGMT: L84F; rs12917

PubMed Link: 24212786

Variant Present in the following documents:

• Main text

View BVdb publication page

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MGMT Leu84Phe polymorphism contributes to cancer susceptibility: evidence from 44 case-control studies.

Plos One

Liu, Jun J; Zhang, Renxia R; Chen, Fei F; Yu, Cuicui C; Sun, Yan Y; Jia, Chuanliang C; Zhang, Lijing L; Salahuddin, Taufiq T; Li, Xiaodong X; Lang, Juntian J; Song, Xicheng X

Publication Date: 2013

Variant appearance in text: MGMT: Leu84Phe; rs12917

PubMed Link: 24086516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms associated with the risk of lung cancer in a healthy Mexican Mestizo population: Application of the additive model for cancer.

Genetics And Molecular Biology

Pérez-Morales, Rebeca R; Méndez-Ramírez, Ignacio I; Castro-Hernández, Clementina C; Martínez-Ramírez, Ollin C OC; Gonsebatt, María Eugenia ME; Rubio, Julieta J

Publication Date: 2011-10

Variant appearance in text: MGMT: Leu84Phe; rs12917

PubMed Link: 22215955

Variant Present in the following documents:

• Main text
• gmb-34-1-546.pdf

View BVdb publication page

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Polymorphisms of the DNA repair gene MGMT and risk and progression of head and neck cancer.

Dna Repair

Zhang, Zhengdong Z; Wang, Luo L; Wei, Sheng S; Liu, Zhensheng Z; Wang, Li-E LE; Sturgis, Erich M EM; Wei, Qingyi Q

Publication Date: 2010-05-04

Variant appearance in text: MGMT: Leu115Phe; rs12917

PubMed Link: 20206583

Variant Present in the following documents:

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Polymorphisms in genes involved in DNA repair, cell growth, oxidative stress and inflammatory response, and melanoma risk.

The British Journal Of Dermatology

Gu, F F; Qureshi, A A AA; Kraft, P P; Guo, Q Q; Hunter, D J DJ; Han, J J

Publication Date: 2009-07

Variant appearance in text: rs12917

PubMed Link: 19438866

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Single nucleotide polymorphisms in DNA repair genes and prostate cancer risk.

Methods In Molecular Biology (Clifton, N.J.)

Park, Jong Y JY; Huang, Yifan Y; Sellers, Thomas A TA

Publication Date: 2009

Variant appearance in text: MGMT: L84F; rs12917

PubMed Link: 19109789

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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: MGMT: L84F; rs12917

PubMed Link: 18830263

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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: MGMT: Leu84Phe; rs12917

PubMed Link: 18191955

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Human variants of O6-alkylguanine-DNA alkyltransferase.

Dna Repair

Pegg, Anthony E AE; Fang, Qingming Q; Loktionova, Natalia A NA

Publication Date: 2007-08-01

Variant appearance in text: MGMT: L84F; rs12917

PubMed Link: 17482892

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Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

Nucleic Acids Research

Milani, Lili L; Gupta, Manu M; Andersen, Malin M; Dhar, Sumeer S; Fryknäs, Mårten M; Isaksson, Anders A; Larsson, Rolf R; Syvänen, Ann-Christine AC

Publication Date: 2007

Variant appearance in text: rs12917

PubMed Link: 17267408

Variant Present in the following documents:

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• gkl1152.pdf

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