Publications:

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A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: ERCC4: S835S; rs1799801

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ERCC4: S835S; rs1799801

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Association of Clinical Aspects and Genetic Variants with the Severity of Cisplatin-Induced Ototoxicity in Head and Neck Squamous Cell Carcinoma: A Prospective Cohort Study.

Cancers

Macedo, Ligia Traldi LT; Costa, Ericka Francislaine Dias EFD; Carvalho, Bruna Fernandes BF; Lourenço, Gustavo Jacob GJ; Calonga, Luciane L; Castilho, Arthur Menino AM; Chone, Carlos Takahiro CT; Lima, Carmen Silvia Passos CSP

Publication Date: 2023-03-14

Variant appearance in text: XPF: 2505T>C; Ser835Ser; rs1799801

PubMed Link: 36980643

Variant Present in the following documents:

• Main text
• cancers-15-01759.pdf

View BVdb publication page

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ERCC1 polymorphism and its expression associated with ischemic stroke in Chinese population.

Frontiers In Neurology

Deng, Xiao-Dong XD; Ke, Jian-Lin JL; Chen, Tai-Yu TY; Gao, Qin Q; Zhao, Zhuo-Lin ZL; Zhang, Wei W; Liu, Huan H; Xiang, Ming-Liang ML; Wang, Li-Zhen LZ; Ma, Ying Y; Liu, Yun Y

Publication Date: 2022

Variant appearance in text: rs1799801

PubMed Link: 36712419

Variant Present in the following documents:

• Main text
• fneur-13-998428.pdf

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: XPF: 2505T>C; rs1799801

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: ERCC4: S835S; rs1799801

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs1799801

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_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: ERCC4: S835S

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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Polymorphisms in ERCC4 and ERCC5 and risk of cancers: Systematic research synopsis, meta-analysis, and epidemiological evidence.

Frontiers In Oncology

Zuo, Chunjian C; Lv, Xiaolong X; Liu, Tianyu T; Yang, Lei L; Yang, Zelin Z; Yu, Cao C; Chen, Huanwen H

Publication Date: 2022

Variant appearance in text: rs1799801

PubMed Link: 36033436

Variant Present in the following documents:

• Main text
• Table_3.pdf
• fonc-12-951193.pdf

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: N/A

PubMed Link: 35898688

Variant Present in the following documents:

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: ERCC4: S835S; rs1799801

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.

The British Journal Of Dermatology

Calbet-Llopart, Neus N; Combalia, Marc M; Kiroglu, Anil A; Potrony, Miriam M; Tell-Martí, Gemma G; Combalia, Andrea A; Brugues, Albert A; Podlipnik, Sebastian S; Carrera, Cristina C; Puig, Susana S; Malvehy, Josep J; Puig-Butillé, Joan Anton JA

Publication Date: 2022-11

Variant appearance in text: rs1799801

PubMed Link: 35701387

Variant Present in the following documents:

• Main text
• BJD-187-753.pdf

View BVdb publication page

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Association between Genetic Polymorphism of GSTP1 and Toxicities in Patients Receiving Platinum-Based Chemotherapy: A Systematic Review and Meta-Analysis.

Pharmaceuticals (Basel, Switzerland)

Kim, Woorim W; Cho, Young-Ah YA; Kim, Dong-Chul DC; Lee, Kyung-Eun KE

Publication Date: 2022-04-01

Variant appearance in text: XPF: 2505T>C

PubMed Link: 35455437

Variant Present in the following documents:

• pharmaceuticals-15-00439.pdf

View BVdb publication page

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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: ERCC4: S835S

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs1799801

PubMed Link: 34802422

Variant Present in the following documents:

• Main text
• 12884_2021_Article_4242.pdf

View BVdb publication page

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Genetic Variants of DNA Repair Genes as Predictors of Radiation-Induced Subcutaneous Fibrosis in Oropharyngeal Carcinoma.

Frontiers In Oncology

Gupta, Ankita A; Mathew, Don D; Bhat, Shabir Ahmad SA; Ghoshal, Sushmita S; Pal, Arnab A

Publication Date: 2021

Variant appearance in text: rs1799801

PubMed Link: 34079756

Variant Present in the following documents:

• Main text
• fonc-11-652049.pdf

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: rs1799801

PubMed Link: 34078296

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8335.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: ERCC4: Ser835Ser; rs1799801

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Predictive value of clinical toxicities of chemotherapy with fluoropyrimidines and oxaliplatin in colorectal cancer by DPYD and GSTP1 gene polymorphisms.

World Journal Of Surgical Oncology

Deng, Xunwei X; Hou, Jingyuan J; Deng, Qiaoting Q; Zhong, Zhixiong Z

Publication Date: 2020-12-06

Variant appearance in text: XPF: 2505T>C

PubMed Link: 33280607

Variant Present in the following documents:

• 12957_2020_Article_2103.pdf

View BVdb publication page

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: ERCC4: 2505T>C; Ser835Ser

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

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: ERCC4: 2505T>C; Ser835=

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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Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Cancers

Velázquez, Carolina C; K, De Leeneer L; Esteban-Cardeñosa, Eva M EM; Avila Cobos, Francisco F; Lastra, Enrique E; Abella, Luis E LE; de la Cruz, Virginia V; Lobatón, Carmen D CD; Claes, Kathleen B KB; Durán, Mercedes M; Infante, Mar M

Publication Date: 2020-08-03

Variant appearance in text: ERCC4: 2505T>C; rs1799801

PubMed Link: 32756499

Variant Present in the following documents:

• cancers-12-02151-s001.pdf

View BVdb publication page

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Glutathione S-transferase Polymorphisms in Head and Neck Squamous Cell Carcinoma Treated with Chemotherapy and/or Radiotherapy.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Maniglia, Mauricio Pereira MP; Russo, Anelise A; Biselli-Chicote, Patrícia Matos PM; Oliveira-Cucolo, Juliana Garcia De JG; Rodrigues-Fleming, Gabriela Helena GH; -Maniglia, José Victor JV; Pavarino, Érika Cristina ÉC; Goloni-Bertollo, Eny Maria EM

Publication Date: 2020-06-01

Variant appearance in text: XPF: 2505T>C

PubMed Link: 32592358

Variant Present in the following documents:

• APJCP-21-1637.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: ERCC4: S835S; rs1799801

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1799801

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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: ERCC4: S835S; rs1799801

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

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: ERCC4: 2505T>C; Ser835=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.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: rs1799801

PubMed Link: 31988591

Variant Present in the following documents:

• Main text

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: ERCC4: 2505T>C; Ser835=; rs1799801

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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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: ERCC4: S835S; rs1799801

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Model-based clustering for identifying disease-associated SNPs in case-control genome-wide association studies.

Scientific Reports

Xu, Yan Y; Xing, Li L; Su, Jessica J; Zhang, Xuekui X; Qiu, Weiliang W

Publication Date: 2019-09-23

Variant appearance in text: rs1799801

PubMed Link: 31548641

Variant Present in the following documents:

• Main text
• 41598_2019_Article_50229.pdf

View BVdb publication page

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Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Journal Of Cancer

Liu, Jingwei J; Zheng, Bowen B; Li, Ying Y; Yuan, Yuan Y; Xing, Chengzhong C

Publication Date: 2019

Variant appearance in text: XPF: Ser835Ser; rs1799801

PubMed Link: 31031852

Variant Present in the following documents:

• Main text
• jcav10p1417.pdf

View BVdb publication page

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Cost-minimization analysis of GSTP1c.313A>G genotyping for the prevention of cisplatin-induced nausea and vomiting: A Bayesian inference approach.

Plos One

Macedo, Ligia Traldi LT; Ferrari, Vinicius Eduardo VE; Carron, Juliana J; Costa, Ericka Francislaine Dias EFD; Lopes-Aguiar, Leisa L; Lourenço, Gustavo Jacob GJ; Lima, Carmen Silvia Passos CSP

Publication Date: 2019

Variant appearance in text: XPF: 2505T>C

PubMed Link: 30870506

Variant Present in the following documents:

• pone.0213929.pdf

View BVdb publication page

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cAMP-mediated regulation of melanocyte genomic instability: A melanoma-preventive strategy.

Advances In Protein Chemistry And Structural Biology

Holcomb, Nathaniel C NC; Bautista, Robert-Marlo RM; Jarrett, Stuart G SG; Carter, Katharine M KM; Gober, Madeline Krentz MK; D'Orazio, John A JA

Publication Date: 2019

Variant appearance in text: rs1799801

PubMed Link: 30798934

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: ERCC4: S835S; rs1799801

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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

Molecular Genetics & Genomic Medicine

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

Publication Date: 2018-09

Variant appearance in text: ERCC4: 2505T>C; S835S; rs1799801

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Bladder Cancer Genetic Susceptibility. A Systematic Review.

Bladder Cancer (Amsterdam, Netherlands)

de Maturana, Evangelina López EL; Rava, Marta M; Anumudu, Chiaka C; Sáez, Olga O; Alonso, Dolores D; Malats, Núria N

Publication Date: 2018-04-26

Variant appearance in text: rs1799801

PubMed Link: 29732392

Variant Present in the following documents:

• Main text
• blc-4-blc170159.pdf

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: ERCC4: S835S

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s003.xlsx, sheet 1
• pone.0195761.s005.xlsx, sheet 1

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: ERCC4: S835S; rs1799801

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

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Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports

Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y

Publication Date: 2017-08-21

Variant appearance in text: ERCC4: Ser835Ser; rs1799801

PubMed Link: 28827732

Variant Present in the following documents:

• 41598_2017_7737_MOESM1_ESM.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1799801

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, 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: N/A

PubMed Link: 28569743

Variant Present in the following documents:

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: ERCC4: S835S; rs1799801

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype.

Oncotarget

Carrera-Lasfuentes, Patricia P; Lanas, Angel A; Bujanda, Luis L; Strunk, Mark M; Quintero, Enrique E; Santolaria, Santos S; Benito, Rafael R; Sopeña, Federico F; Piazuelo, Elena E; Thomson, Concha C; Pérez-Aisa, Angeles A; Nicolás-Pérez, David D; Hijona, Elizabeth E; Espinel, Jesús J; Campo, Rafael R; Manzano, Marisa M; Geijo, Fernando F; Pellise, María M; Zaballa, Manuel M; González-Huix, Ferrán F; Espinós, Jorge J; Titó, Llúcia L; Barranco, Luis L; D'Amato, Mauro M; García-González, María Asunción MA

Publication Date: 2017-05-30

Variant appearance in text: rs1799801

PubMed Link: 28415781

Variant Present in the following documents:

• Main text
• oncotarget-08-35848.pdf

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Nucleotide excision repair pathway gene polymorphisms are linked to breast cancer risk in a Chinese population.

Oncotarget

He, Bang-Shun BS; Xu, Tao T; Pan, Yu-Qin YQ; Wang, Han-Jin HJ; Cho, William C WC; Lin, Kang K; Sun, Hui-Ling HL; Gao, Tian-Yi TY; Wang, Shu-Kui SK

Publication Date: 2016-12-20

Variant appearance in text: XPF: Ser835Ser; rs1799801

PubMed Link: 27768589

Variant Present in the following documents:

• Main text
• oncotarget-07-84872.pdf

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Polymorphisms of multiple genes involved in NER pathway predict prognosis of gastric cancer.

Oncotarget

Liu, Jingwei J; Deng, Na N; Xu, Qian Q; Sun, Liping L; Tu, Huakang H; Wang, Zhenning Z; Xing, Chengzhong C; Yuan, Yuan Y

Publication Date: 2016-07-26

Variant appearance in text: rs1799801

PubMed Link: 27340861

Variant Present in the following documents:

• Main text
• oncotarget-07-48130.pdf

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The association of six polymorphisms of five genes involved in three steps of nucleotide excision repair pathways with hepatocellular cancer risk.

Oncotarget

Wang, Bengang B; Xu, Qian Q; Yang, Huai-Wei HW; Sun, Li-Ping LP; Yuan, Yuan Y

Publication Date: 2016-04-12

Variant appearance in text: rs1799801

PubMed Link: 26967386

Variant Present in the following documents:

• Main text

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XPD c.934G>A polymorphism of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma patients treated with cisplatin chemoradiation.

Oncotarget

Lopes-Aguiar, Leisa L; Costa, Ericka Francislaine Dias EF; Nogueira, Guilherme Augusto Silva GA; Lima, Tathiane Regine Penna TR; Visacri, Marília Berlofa MB; Pincinato, Eder Carvalho EC; Calonga, Luciane L; Mariano, Fernanda Viviane FV; de Almeida Milani Altemani, Albina Messias AM; Altemani, João Maurício Carrasco JM; Coutinho-Camillo, Cláudia Malheiros CM; Ribeiro Alves, Maria Almerinda Vieira Fernandes MA; Moriel, Patrícia P; Ramos, Celso Dario CD; Chone, Carlos Takahiro CT; Lima, Carmen Silvia Passos CS

Publication Date: 2017-03-07

Variant appearance in text: XPF: 2505T>C; Ser835Ser; rs1799801

PubMed Link: 26918827

Variant Present in the following documents:

• Main text
• oncotarget-08-16190.pdf

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: ERCC4: S835S; rs1799801

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.

International Journal Of Molecular Sciences

Simeon, Vittorio V; Todoerti, Katia K; La Rocca, Francesco F; Caivano, Antonella A; Trino, Stefania S; Lionetti, Marta M; Agnelli, Luca L; De Luca, Luciana L; Laurenzana, Ilaria I; Neri, Antonino A; Musto, Pellegrino P

Publication Date: 2015-07-30

Variant appearance in text: ERCC4: Ser835Ser; rs1799801

PubMed Link: 26263974

Variant Present in the following documents:

• Main text

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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: ERCC4: 2505T>C; S835S; rs1799801

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: ERCC4: S835S; rs1799801

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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

Plos One

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

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

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