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: XPC: A499V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Gene polymorphisms and prognosis of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology

Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H

Publication Date: 2022

Variant appearance in text: XPC: A499V; rs2228000

PubMed Link: 36632296

Variant Present in the following documents:

• rpor-27-6-1045.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: XPC: A499V; rs2228000

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Polymorphisms of nucleotide excision repair genes associated with colorectal cancer risk: Meta-analysis and trial sequential analysis.

Frontiers In Genetics

Yi, Chuncheng C; Li, Tiandong T; Shen, Yajing Y; Wang, Peng P; Dai, Liping L; Shi, Jianxiang J; Wang, Keyan K; Sun, Changqing C; Ye, Hua H

Publication Date: 2022

Variant appearance in text: rs2228000

PubMed Link: 36386844

Variant Present in the following documents:

• Main text
• fgene-13-1009938.pdf

View BVdb publication page

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Targeting DNA damage response as a potential therapeutic strategy for head and neck squamous cell carcinoma.

Frontiers In Oncology

Lei, Huimin H; He, Ading A; Jiang, Yingying Y; Ruan, Min M; Han, Nannan N

Publication Date: 2022

Variant appearance in text: XPC: Ala499Val

PubMed Link: 36338767

Variant Present in the following documents:

• Main text
• fonc-12-1031944.pdf

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: XPC: 1496C>T; Ala499Val; rs2228000

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
• 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: XPC: A499V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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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: XPC: A499V

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: XPC: A499V

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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: XPC: 1496C>T; A499V; rs2228000

PubMed Link: 35925403

Variant Present in the following documents:

• 401_2022_2473_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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

Biomed Research International

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

Publication Date: 2022

Variant appearance in text: XPC: Ala499Val

PubMed Link: 35898688

Variant Present in the following documents:

• BMRI2022-8549532.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

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

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: XPC: A499V; rs2228000

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Xeroderma Pigmentosum Complementation Group C (XPC): Emerging Roles in Non-Dermatologic Malignancies.

Frontiers In Oncology

Nasrallah, Nawar Al NA; Wiese, Benjamin M BM; Sears, Catherine R CR

Publication Date: 2022

Variant appearance in text: XPC: A499V; rs2228000

PubMed Link: 35530314

Variant Present in the following documents:

• Main text
• fonc-12-846965.pdf

View BVdb publication page

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The current state of genetic risk models for the development of kidney cancer: a review and validation.

Bju International

Harrison, Hannah H; Li, Nicole N; Saunders, Catherine L CL; Rossi, Sabrina H SH; Dennis, Joe J; Griffin, Simon J SJ; Stewart, Grant D GD; Usher-Smith, Juliet A JA

Publication Date: 2022-11

Variant appearance in text: XPC: Ala499Val; rs2228000

PubMed Link: 35460182

Variant Present in the following documents:

• BJU-130-550-s004.pdf

View BVdb publication page

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The formation of SCEs as an effect of occupational exposure to formaldehyde.

Archives Of Toxicology

Ghelli, Federica F; Cocchi, Enrico E; Bellisario, Valeria V; Buglisi, Martina M; Squillacioti, Giulia G; Santovito, Alfredo A; Bono, Roberto R

Publication Date: 2022-04

Variant appearance in text: rs2228000

PubMed Link: 35149893

Variant Present in the following documents:

• 204_2022_Article_3238.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: rs2228000

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

Bmc Pregnancy And Childbirth

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

Publication Date: 2021-11-22

Variant appearance in text: XPC: A499V; rs2228000

PubMed Link: 34802422

Variant Present in the following documents:

• Main text
• 12884_2021_Article_4242.pdf

View BVdb publication page

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Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome.

Hematology, Transfusion And Cell Therapy

Borges, Daniela de Paula DP; Dos Santos, Rinna Maria Arruda Rodrigues RMAR; Velloso, Elvira Rodrigues Pereira ERP; Ribeiro Junior, Howard Lopes HL; Larripa, Irene Beatriz IB; Camacho, Maria Fernanda MF; González, Jacqueline J; Pratx, Leandro Daniel Burgos LDB; Magalhães, Sílvia Maria Meira SMM; Belli, Carolina Bárbara CB; Pinheiro, Ronald Feitosa RF

Publication Date: 2021-09-09

Variant appearance in text: rs2228000

PubMed Link: 34544665

Variant Present in the following documents:

• Main text

View BVdb publication page

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Xeroderma pigmentosum and acute myeloid leukemia: a case report.

Journal Of Medical Case Reports

Bencharef, H H; Lamchahab, M M; Dassouli, D D; Sraidi, S S; Guennoun, B B; Hda, N N; Oukkache, B B; Quessar, A A

Publication Date: 2021-08-26

Variant appearance in text: XPC: Ala499Val

PubMed Link: 34446105

Variant Present in the following documents:

• 13256_2021_Article_2969.pdf

View BVdb publication page

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The correlation between polymorphisms in the XPC gene and glioma susceptibility in a Chinese pediatric population.

Translational Pediatrics

Zhang, Zhuorong Z; Huang, Yihuan Y; Chen, Honghao H; Wu, Ping P; Deng, Zhijian Z; Deng, Gaoyan G; Zheng, Yongqin Y; Li, Guoyuan G; Yuan, Li L; Xu, Yingyi Y

Publication Date: 2021-07

Variant appearance in text: XPC: Ala499Val; rs2228000

PubMed Link: 34430438

Variant Present in the following documents:

• Main text
• tp-10-07-1896.pdf

View BVdb publication page

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

Health Science Reports

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

Publication Date: 2021-09

Variant appearance in text: rs2228000

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: XPC: 1496C>T; Ala499Val; rs2228000

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

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Novel EDGE encoding method enhances ability to identify genetic interactions.

Plos Genetics

Hall, Molly A MA; Wallace, John J; Lucas, Anastasia M AM; Bradford, Yuki Y; Verma, Shefali S SS; Müller-Myhsok, Bertram B; Passero, Kristin K; Zhou, Jiayan J; McGuigan, John J; Jiang, Beibei B; Pendergrass, Sarah A SA; Zhang, Yanfei Y; Peissig, Peggy P; Brilliant, Murray M; Sleiman, Patrick P; Hakonarson, Hakon H; Harley, John B JB; Kiryluk, Krzysztof K; Van Steen, Kristel K; Moore, Jason H JH; Ritchie, Marylyn D MD

Publication Date: 2021-06

Variant appearance in text: XPC: Ala499Val

PubMed Link: 34086673

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Bmc Cancer

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

Publication Date: 2021-06-02

Variant appearance in text: XPC: Ala499Val; rs2228000

PubMed Link: 34078296

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Bmc Cancer

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

Publication Date: 2021-05-29

Variant appearance in text: XPC: 1496C>T; Ala499Val; rs2228000

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Interaction of DNA Repair Gene XPC With Smoking and Betel Quid Chewing Behaviors of Oral Cancer.

Cancer Genomics & Proteomics

Wu, Cheng-Nan CN; Chang, Wen-Shin WS; Shih, Liang-Chun LC; Wang, Yun-Chi YC; Lee, Hsu-Tung HT; Yu, Chien-Chih CC; Wang, Zhi-Hong ZH; Mong, Mei-Chin MC; Hsia, Te-Chun TC; Tsai, Chia-Wen CW; Bau, DA-Tian DT

Publication Date: 2021

Variant appearance in text: XPC: Ala499Val; rs2228000

PubMed Link: 33994366

Variant Present in the following documents:

• Main text

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: XPC: 1496C>T; A499V; rs2228000

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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Radio-adaptive response and correlation of non-homologous end joining repair gene polymorphisms [XRRC5 (3R/2R/1R/0R), XRCC6(C/G) and XRCC7 (G/T)] in human peripheral blood mononuclear cells exposed to gamma radiation.

Genes And Environment : The Official Journal Of The Japanese Environmental Mutagen Society

Shelke, Shridevi S; Das, Birajalaxmi B

Publication Date: 2021-03-08

Variant appearance in text: XPC: Ala499Val

PubMed Link: 33685509

Variant Present in the following documents:

• Main text
• 41021_2021_Article_176.pdf

View BVdb publication page

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Association between NER pathway gene polymorphisms and neuroblastoma risk in an eastern Chinese population.

Molecular Therapy Oncolytics

Zhou, Chunlei C; Wang, Yizhen Y; He, Lili L; Zhu, Jinhong J; Li, Jinghang J; Tang, Yingzi Y; Zhou, Haixia H; He, Jing J; Wu, Haiyan H

Publication Date: 2021-03-26

Variant appearance in text: rs2228000

PubMed Link: 33575466

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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The ECCR1 rs11615, ERCC4 rs2276466, XPC rs2228000 and XPC rs2228001 polymorphisms increase the cervical cancer risk and aggressiveness in the Bangladeshi population.

Heliyon

Das, Shiba S; Naher, Lutfur L; Aka, Tutun Das TD; Aziz, Md Abdul MA; Shabnaz, Samia S; Shahriar, Mohammad M; Islam, Mohammad Safiqul MS

Publication Date: 2021-01

Variant appearance in text: XPC: Ala499Val; rs2228000

PubMed Link: 33490679

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2228000

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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A systematic review and network meta-analysis of single nucleotide polymorphisms associated with pancreatic cancer risk.

Aging

Ye, Zhuo-Miao ZM; Li, Li-Juan LJ; Luo, Ming-Bo MB; Qing, Hong-Yuan HY; Zheng, Jing-Hui JH; Zhang, Chi C; Lu, Yun-Xin YX; Tang, You-Ming YM

Publication Date: 2020-11-20

Variant appearance in text: rs2228000

PubMed Link: 33226370

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent Advances in Arsenic Research: Significance of Differential Susceptibility and Sustainable Strategies for Mitigation.

Frontiers In Public Health

Sanyal, Tamalika T; Bhattacharjee, Pritha P; Paul, Somnath S; Bhattacharjee, Pritha P

Publication Date: 2020

Variant appearance in text: rs2228000

PubMed Link: 33134234

Variant Present in the following documents:

• Table_2.pdf

View BVdb publication page

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

Journal Of Medical Case Reports

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

Publication Date: 2020-08-31

Variant appearance in text: XPC: 1496C>T; Ala499Val

PubMed Link: 32867815

Variant Present in the following documents:

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

View BVdb publication page

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

Data In Brief

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

Publication Date: 2020-08

Variant appearance in text: rs2228000

PubMed Link: 32637486

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive analysis of the effect of rs2295080 and rs2536 polymorphisms within the mTOR gene on cancer risk.

Bioscience Reports

Qi, Guang-Hui GH; Wang, Chun-Hui CH; Zhang, Hong-Ge HG; Yu, Jian-Guo JG; Ding, Fei F; Song, Zhi-Chao ZC; Xia, Qing-Hua QH

Publication Date: 2020-07-31

Variant appearance in text: rs2228000

PubMed Link: 32597485

Variant Present in the following documents:

• bsr-40-bsr20191825.pdf

View BVdb publication page

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

Journal Of Clinical Laboratory Analysis

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

Publication Date: 2020-09

Variant appearance in text: XPC: A499V; rs2228000

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Environmental exposures and breast cancer risk in the context of underlying susceptibility: A systematic review of the epidemiological literature.

Environmental Research

Zeinomar, Nur N; Oskar, Sabine S; Kehm, Rebecca D RD; Sahebzeda, Shamin S; Terry, Mary Beth MB

Publication Date: 2020-08

Variant appearance in text: XPC: Ala499Val

PubMed Link: 32445942

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: XPC: A499V

PubMed Link: 32300177

Variant Present in the following documents:

• Main text
• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1
• 41388_2020_Article_1280.pdf

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: XPC: 1496C>T; Ala499Val

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: XPC: A499V

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: XPC: 1496C>T; A499V; rs2228000

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Nucleotide excision repair pathway gene polymorphisms are associated with risk and prognosis of colorectal cancer.

World Journal Of Gastroenterology

Li, Yan-Ke YK; Xu, Qian Q; Sun, Li-Ping LP; Gong, Yue-Hua YH; Jing, Jing-Jing JJ; Xing, Cheng-Zhong CZ; Yuan, Yuan Y

Publication Date: 2020-01-21

Variant appearance in text: rs2228000

PubMed Link: 31988591

Variant Present in the following documents:

• Main text

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: XPC: A499V

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

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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: XPC: 1496C>T; Ala499Val

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 12

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Susceptibility of Multiple Primary Cancers in Patients With Head and Neck Cancer: Nature or Nurture?

Frontiers In Oncology

Zhang, Wei-Long WL; Zhu, Zhuo-Li ZL; Huang, Mei-Chang MC; Tang, Ya-Jie YJ; Tang, Ya-Ling YL; Liang, Xin-Hua XH

Publication Date: 2019

Variant appearance in text: XPC: Ala499Val

PubMed Link: 31824853

Variant Present in the following documents:

• Main text

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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: XPC: Ala499Val; rs2228000

PubMed Link: 31818908

Variant Present in the following documents:

• Main text

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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: XPC: Ala499Val; rs2228000

PubMed Link: 31710080

Variant Present in the following documents:

• Main text
• bsr-39-bsr20192452.pdf

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