XPA c.-4A>G

Variant ID: 9-100459578-T-C

NM_000380.3(XPA):c.-4A>G

This variant was identified in 114 publications

View GRCh38 version.




Publications:


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: rs1800975
PubMed Link: 36632296
Variant Present in the following documents:
  • rpor-27-6-1045.pdf
View BVdb publication page



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: XPA: -4A>G; rs1800975
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



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: rs1800975
PubMed Link: 36033436
Variant Present in the following documents:
  • Table_3.pdf
View BVdb publication page



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: rs1800975
PubMed Link: 35898688
Variant Present in the following documents:
  • BMRI2022-8549532.pdf
View BVdb publication page



The Role of DNA Repair in Genomic Instability of Multiple Myeloma.

International Journal Of Molecular Sciences
Ali, Jana Yasser Hafez JYH; Fitieh, Amira Mohammed AM; Ismail, Ismail Hassan IH
Publication Date: 2022-05-19

Variant appearance in text: rs1800975
PubMed Link: 35628498
Variant Present in the following documents:
  • Main text
  • ijms-23-05688.pdf
View BVdb publication page



Prediction of lung cancer risk in Chinese population with genetic-environment factor using extreme gradient boosting.

Cancer Medicine
Li, Yutao Y; Zou, Zixiu Z; Gao, Zhunyi Z; Wang, Yi Y; Xiao, Man M; Xu, Chang C; Jiang, Gengxi G; Wang, Haijian H; Jin, Li L; Wang, Jiucun J; Wang, Huai Zhou HZ; Guo, Shicheng S; Wu, Junjie J
Publication Date: 2022-05-02

Variant appearance in text: rs1800975
PubMed Link: 35499292
Variant Present in the following documents:
  • Main text
  • CAM4-11-4469.pdf
View BVdb publication page



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: rs1800975
PubMed Link: 35460182
Variant Present in the following documents:
  • BJU-130-550-s004.pdf
View BVdb publication page



Gauging the role and impact of drug interactions and repurposing in neurodegenerative disorders.

Current Research In Pharmacology And Drug Discovery
Khatri, Dharmendra Kumar DK; Kadbhane, Amey A; Patel, Monica M; Nene, Shweta S; Atmakuri, Srividya S; Srivastava, Saurabh S; Singh, Shashi Bala SB
Publication Date: 2021

Variant appearance in text: rs1800975
PubMed Link: 34909657
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Frontiers In Cell And Developmental Biology
Feng, Yuyang Y; Yao, Surui S; Pu, Zhening Z; Cheng, Han H; Fei, Bojian B; Zou, Jian J; Huang, Zhaohui Z
Publication Date: 2021

Variant appearance in text: rs1800975
PubMed Link: 34805171
Variant Present in the following documents:
  • Main text
  • fcell-09-764275.pdf
View BVdb publication page



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: rs1800975
PubMed Link: 34802422
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1800975
PubMed Link: 34544665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk.

Frontiers In Molecular Biosciences
Li, Xiaoying X; Wu, Qijun Q; Zhou, Baosen B; Liu, Yashu Y; Lv, Jiale J; Chang, Qing Q; Zhao, Yuhong Y
Publication Date: 2021

Variant appearance in text: rs1800975
PubMed Link: 34540891
Variant Present in the following documents:
  • Main text
  • fmolb-08-687105.pdf
View BVdb publication page



XPA serves as an autophagy and apoptosis inducer by suppressing hepatocellular carcinoma in a PI3K/Akt/mTOR dependent manner.

Journal Of Gastrointestinal Oncology
Deng, Yi Y; Chen, Qing-Song QS; Huang, Wei-Feng WF; Dai, Jiang-Wen JW; Wu, Zhong-Jun ZJ
Publication Date: 2021-08

Variant appearance in text: rs1800975
PubMed Link: 34532129
Variant Present in the following documents:
  • Main text
View BVdb publication page



Xeroderma Pigmentosum: Gene Variants and Splice Variants.

Genes
Martens, Marie Christine MC; Emmert, Steffen S; Boeckmann, Lars L
Publication Date: 2021-07-29

Variant appearance in text: rs1800975
PubMed Link: 34440347
Variant Present in the following documents:
  • Main text
  • genes-12-01173.pdf
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: rs1800975
PubMed Link: 34295994
Variant Present in the following documents:
  • Main text
  • HSR2-4-e327.pdf
View BVdb publication page



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: rs1800975
PubMed Link: 34078296
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: XPA: -4A>G; rs1800975
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs1800975
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs1800975
PubMed Link: 33575466
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc2.pdf
View BVdb publication page



Genetic Polymorphisms and the Efficacy of Platinum-Based Chemotherapy: Review.

Pharmacogenomics And Personalized Medicine
Afifah, Nadiya Nurul NN; Diantini, Ajeng A; Intania, Ruri R; Abdulah, Rizky R; Barliana, Melisa I MI
Publication Date: 2020

Variant appearance in text: rs1800975
PubMed Link: 33116759
Variant Present in the following documents:
  • Main text
  • pgpm-13-427.pdf
View BVdb publication page



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: rs1800975
PubMed Link: 32637486
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Association of human XPA rs1800975 polymorphism and cancer susceptibility: an integrative analysis of 71 case-control studies.

Cancer Cell International
Yuan, Maoxi M; Yu, Chunmei C; Yu, Kuiying K
Publication Date: 2020

Variant appearance in text: rs1800975
PubMed Link: 32435155
Variant Present in the following documents:
  • Main text
View BVdb publication page



XPA: DNA Repair Protein of Significant Clinical Importance.

International Journal Of Molecular Sciences
Borszéková Pulzová, Lucia L; Ward, Thomas A TA; Chovanec, Miroslav M
Publication Date: 2020-03-22

Variant appearance in text: rs1800975
PubMed Link: 32235701
Variant Present in the following documents:
  • Main text
  • ijms-21-02182.pdf
View BVdb publication page



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: XPA: -4A>G; rs1800975
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: rs1800975
PubMed Link: 31988591
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1800975
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.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: XPA: -4A>G; rs1800975
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: XPA: -4A>G; rs1800975
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



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: rs1800975
PubMed Link: 31031852
Variant Present in the following documents:
  • Main text
  • jcav10p1417.pdf
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: rs1800975
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies.

Cancer Medicine
Tian, Jie J; Liu, Caiyang C; Liu, Guanchu G; Zuo, Chunjian C; Chen, Huanwen H
Publication Date: 2019-03

Variant appearance in text: rs1800975
PubMed Link: 30793520
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in ERCC5 rs17655 and ERCC1 rs735482 Genes Associated with the Survival of Male Patients with Postoperative Oral Squamous Cell Carcinoma Treated with Adjuvant Concurrent Chemoradiotherapy.

Journal Of Clinical Medicine
Senghore, Thomas T; Chien, Huei-Tzu HT; Wang, Wen-Chang WC; Chen, You-Xin YX; Young, Chi-Kuang CK; Huang, Shiang-Fu SF; Yeh, Chih-Ching CC
Publication Date: 2019-01-01

Variant appearance in text: rs1800975
PubMed Link: 30609649
Variant Present in the following documents:
  • Main text
  • jcm-08-00033.pdf
View BVdb publication page



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: rs1800975
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
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: XPA: -4A>G; rs1800975
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genetic Variations and Cisplatin Nephrotoxicity: A Systematic Review.

Frontiers In Pharmacology
Zazuli, Zulfan Z; Vijverberg, Susanne S; Slob, Elise E; Liu, Geoffrey G; Carleton, Bruce B; Veltman, Joris J; Baas, Paul P; Masereeuw, Rosalinde R; Maitland-van der Zee, Anke-Hilse AH
Publication Date: 2018

Variant appearance in text: rs1800975
PubMed Link: 30319427
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk.

Molecular Therapy. Nucleic Acids
Zhu, Jinhong J; Fu, Wen W; Jia, Wei W; Xia, Huimin H; Liu, Guo-Chang GC; He, Jing J
Publication Date: 2018-09-07

Variant appearance in text: rs1800975
PubMed Link: 30161024
Variant Present in the following documents:
  • Main text
View BVdb publication page



XPA gene polymorphisms and risk of neuroblastoma in Chinese children: a two-center case-control study.

Journal Of Cancer
Tao, Jing J; Zhuo, Zhen-Jian ZJ; Su, Meng M; Yan, Lizhao L; He, Jing J; Zhang, Jiao J
Publication Date: 2018

Variant appearance in text: rs1800975
PubMed Link: 30087717
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predictive Value of Single Nucleotide Polymorphisms of ERCC1, XPA, XPC, XPD and XPG Genes, Involved in NER Mechanism in Patients with Advanced NSCLC Treated with Cisplatin and Gemcitabine.

Pathology Oncology Research : Por
Mlak, Radosław R; Krawczyk, Paweł P; Homa-Mlak, Iwona I; Powrózek, Tomasz T; Ciesielka, Marzanna M; Kozioł, Piotr P; Milanowski, Janusz J; Małecka-Massalska, Teresa T
Publication Date: 2019-07

Variant appearance in text: rs1800975
PubMed Link: 30066234
Variant Present in the following documents:
  • Main text
  • 12253_2018_Article_459.pdf
View BVdb publication page



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: XPA: -4A>G; rs1800975
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 5
View BVdb publication page



Association of XPA polymorphism with breast cancer risk: A meta-analysis.

Medicine
Zhang, Yunhong Y; Guo, Qiang Q; Yin, Xunqiang X; Zhu, Xiaoxiao X; Zhao, Lin L; Zhang, Zhen Z; Wei, Ran R; Wang, Bin B; Li, Xia X
Publication Date: 2018-06

Variant appearance in text: rs1800975
PubMed Link: 29953005
Variant Present in the following documents:
  • Main text
  • medi-97-e11276.pdf
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: XPA: -4A>G; rs1800975
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 variants in the nucleotide excision repair pathway genes and gastric cancer susceptibility in a southern Chinese population.

Cancer Management And Research
He, Jing J; Zhuo, Zhen-Jian ZJ; Zhang, Anqi A; Zhu, Jinhong J; Hua, Rui-Xi RX; Xue, Wen-Qiong WQ; Zhang, Shao-Dan SD; Zhang, Jiang-Bo JB; Li, Xi-Zhao XZ; Jia, Wei-Hua WH
Publication Date: 2018

Variant appearance in text: rs1800975
PubMed Link: 29695933
Variant Present in the following documents:
  • Main text
View BVdb publication page



The association of polymorphisms in nucleotide excision repair genes with ovarian cancer susceptibility.

Bioscience Reports
Zhao, Zhiguang Z; Zhang, Anqi A; Zhao, Yuan Y; Xiang, Junmiao J; Yu, Danyang D; Liang, Zongwen Z; Xu, Chaoyi C; Zhang, Qiong Q; Li, Jianmin J; Duan, Ping P
Publication Date: 2018-06-29

Variant appearance in text: rs1800975
PubMed Link: 29669843
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms of DNA repair genes are associated with colorectal cancer in patients with Lynch syndrome.

Molecular Genetics & Genomic Medicine
Kamiza, Abram B AB; Hsieh, Ling-Ling LL; Tang, Reiping R; Chien, Huei-Tzu HT; Lai, Chih-Hsiung CH; Chiu, Li-Ling LL; Lo, Tsai-Ping TP; Hung, Kuan-Yi KY; You, Jeng-Fu JF; Wang, Wen-Chang WC; Hsiung, Chao A CA; Yeh, Chih-Ching CC
Publication Date: 2018-04-17

Variant appearance in text: rs1800975
PubMed Link: 29664240
Variant Present in the following documents:
  • Main text
  • MGG3-6-533.pdf
View BVdb publication page



Associations between expression levels of nucleotide excision repair proteins in lymphoblastoid cells and risk of squamous cell carcinoma of the head and neck.

Molecular Carcinogenesis
Han, Peng P; Liu, Hongliang H; Shi, Qiong Q; Liu, Zhensheng Z; Troy, Jesse D JD; Lee, Walter T WT; Zevallos, Jose P JP; Li, Guojun G; Sturgis, Erich M EM; Wei, Qingyi Q
Publication Date: 2018-06

Variant appearance in text: rs1800975
PubMed Link: 29528139
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pilot study of single nucleotide polymorphisms in the interleukin-6 receptor and their effects on pre- and post-transplant serum mediator level and outcome after allogeneic stem cell transplantation.

Clinical And Experimental Immunology
Tvedt, T H A THA; Hovland, R R; Tsykunova, G G; Ahmed, A B AB; Gedde-Dahl, T T; Bruserud, Ø Ø
Publication Date: 2018-07

Variant appearance in text: rs1800975
PubMed Link: 29513361
Variant Present in the following documents:
  • Main text
View BVdb publication page