CDKN2A c.*69C>T

Variant ID: 9-21968159-G-A

NM_000077.4(CDKN2A):c.*69C>T

This variant was identified in 72 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs3088440
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
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: rs3088440
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Linc00312 Single Nucleotide Polymorphism as Biomarker for Chemoradiotherapy Induced Hematotoxicity in Nasopharyngeal Carcinoma Patients.

Disease Markers
Guo, Zhen Z; Wang, Ya-Jing YJ; He, Bin-Sheng BS; Zhou, Ji J
Publication Date: 2022

Variant appearance in text: rs3088440
PubMed Link: 35990252
Variant Present in the following documents:
  • DM2022-6707821.pdf
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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs3088440
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Identification of Genomic Variants Associated with the Risk of Acute Lymphoblastic Leukemia in Native Americans from Brazilian Amazonia.

Journal Of Personalized Medicine
Leitão, Luciana P C LPC; de Carvalho, Darlen C DC; Rodrigues, Juliana C G JCG; Fernandes, Marianne R MR; Wanderley, Alayde V AV; Vinagre, Lui W M S LWMS; da Silva, Natasha M NM; Pastana, Lucas F LF; Gellen, Laura P A LPA; Assunção, Matheus C E MCE; Fernandes, Sweny S M SSM; Pereira, Esdras E B EEB; Ribeiro-Dos-Santos, André M AM; Guerreiro, João F JF; Ribeiro-Dos-Santos, Ândrea Â; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Dos Santos, Ney P C NPC
Publication Date: 2022-05-25

Variant appearance in text: rs3088440
PubMed Link: 35743641
Variant Present in the following documents:
  • jpm-12-00856.pdf
View BVdb publication page



The association between single nucleotide polymorphisms and ovarian cancer risk: A systematic review and network meta-analysis.

Cancer Medicine
Hu, Jia J; Xu, Zhe Z; Ye, Zhuomiao Z; Li, Jin J; Hao, Zhinan Z; Wang, Yongjun Y
Publication Date: 2022-05-30

Variant appearance in text: rs3088440
PubMed Link: 35637613
Variant Present in the following documents:
  • CAM4-12-541.pdf
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Correlation of Genetic Variants and the Incidence, Prevalence and Mortality Rates of Acute Lymphoblastic Leukemia.

Journal Of Personalized Medicine
Fernandes, Marianne Rodrigues MR; Souza Vinagre, Lui Wallacy Morikawa LWM; Rodrigues, Juliana Carla Gomes JCG; Wanderley, Alayde Vieira AV; Fernandes, Sweny Marinho SM; Gellen, Laura Patrícia Albarello LPA; Alcântara, Angélica Leite de AL; Sousa, Beatriz Brilhante de BB; Burbano, Rommel Mario Rodríguez RMR; Assumpção, Paulo Pimentel de PP; Santos, Sidney Emanuel Batista Dos SEBD; Santos, Ney Pereira Carneiro Dos NPCD
Publication Date: 2022-02-28

Variant appearance in text: rs3088440
PubMed Link: 35330370
Variant Present in the following documents:
  • Main text
  • jpm-12-00370.pdf
View BVdb publication page



The Relevance of Regenerating Gene 1a Polymorphisms to Radiation Sensitivity and Survival of Nasopharyngeal Carcinoma Receiving Radiotherapy in a Southern Chinese Population.

Pharmacogenomics And Personalized Medicine
Xing, Hai-Jie HJ; Chen, Xiang-Dong XD; Sun, Hong-Xia HX; Dai, Yao-Zhang YZ; Han, Yao-Feng YF; Chen, Hai-Bo HB; Liu, Feng F
Publication Date: 2021

Variant appearance in text: rs3088440
PubMed Link: 34785928
Variant Present in the following documents:
  • Main text
  • pgpm-14-1403.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: rs3088440
PubMed Link: 34295994
Variant Present in the following documents:
  • Main text
  • HSR2-4-e327.pdf
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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: rs3088440
PubMed Link: 34078296
Variant Present in the following documents:
  • Main text
View BVdb publication page



3'UTR-CDKN2A and CDK4 Germline Variants Are Associated With Susceptibility to Cutaneous Melanoma.

In Vivo (Athens, Greece)
Tovar-Parra, David D; Gil-Quiñones, Sebastián Ramiro SR; Nova, John J; Gutiérrez-Castañeda, Luz D LD
Publication Date: 2021

Variant appearance in text: rs3088440
PubMed Link: 33910831
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.

Plos One
Laytragoon Lewin, Nongnit N; Karlsson, Jan-Erik JE; Robinsson, David D; Fagerberg, Matida M; Kentsson, Magnus M; Sayardoust, Shariel S; Nilsson, Mats M; Shamoun, Levar L; Andersson, Bengt-Åke BÅ; Löfgren, Sture S; Rutqvist, Lars Erik LE; Lewin, Freddi F
Publication Date: 2021

Variant appearance in text: rs3088440
PubMed Link: 33507988
Variant Present in the following documents:
  • Main text
  • pone.0243084.pdf
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Hypertension and the roles of the 9p21.3 risk locus: Classic findings and new association data.

International Journal Of Cardiology. Hypertension
Gallo, Juan E JE; Ochoa, Juan E JE; Warren, Helen R HR; Misas, Elizabeth E; Correa, Monica M MM; Gallo-Villegas, Jaime A JA; Bedoya, Gabriel G; Aristizábal, Dagnóvar D; McEwen, Juan G JG; Caulfield, Mark J MJ; Parati, Gianfranco G; Clay, Oliver K OK
Publication Date: 2020-12

Variant appearance in text: rs3088440
PubMed Link: 33330845
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page



Deficiency of PTEN and CDKN2A Tumor-Suppressor Genes in Conventional and Chondroid Chordomas: Molecular Characteristics and Clinical Relevance.

Oncotargets And Therapy
Yang, Chenlong C; Sun, Jianjun J; Yong, Lei L; Liang, Chen C; Liu, Tie T; Xu, Yulun Y; Yang, Jun J; Liu, Xiaoguang X
Publication Date: 2020

Variant appearance in text: rs3088440
PubMed Link: 32547095
Variant Present in the following documents:
  • ott-13-4649.pdf
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NAD(P)H: quinone oxidoreductase 1 gene rs1800566 polymorphism increases the risk of cervical cancer in a Chinese Han sample: A STROBE-complaint case-control study.

Medicine
Yang, Shanshan S; Zhao, Jiannan J; Li, Li L
Publication Date: 2020-05

Variant appearance in text: rs3088440
PubMed Link: 32443295
Variant Present in the following documents:
  • medi-99-e19941.pdf
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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: rs3088440
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Association of SNPs in CDKN2A (P14ARF) Tumour Suppressor Gene With Endometrial Cancer in Postmenopausal Women.

In Vivo (Athens, Greece)
Wujcicka, Wioletta W; Zajac, Agnieszka A; Szyllo, Krzysztof K; Smolarz, Beata B; Romanowicz, Hanna H; Stachowiak, Grzegorz G
Publication Date: 2020

Variant appearance in text: rs3088440
PubMed Link: 32111808
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3088440
PubMed Link: 31824853
Variant Present in the following documents:
  • Main text
View BVdb publication page



Potentially functional variants of autophagy-related genes are associated with the efficacy and toxicity of radiotherapy in patients with nasopharyngeal carcinoma.

Molecular Genetics & Genomic Medicine
Yang, Zhiguang Z; Liu, Zhaoyu Z
Publication Date: 2019-12

Variant appearance in text: rs3088440
PubMed Link: 31692259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of MDM2, TP53 and P14ARF Polymorphisms on Endometrial Cancer Risk and Onset.

In Vivo (Athens, Greece)
Wujcicka, Wioletta W; Zając, Agnieszka A; Stachowiak, Grzegorz G
Publication Date: 2019

Variant appearance in text: rs3088440
PubMed Link: 31028217
Variant Present in the following documents:
  • Main text
View BVdb publication page



TP53 gene rs1042522 allele G decreases neuroblastoma risk: a two-centre case-control study.

Journal Of Cancer
Zhang, Jiao J; Yang, Yang Y; Li, Wenya W; Yan, Lizhao L; Zhang, Da D; He, Jing J; Wang, Jiaxiang J
Publication Date: 2019

Variant appearance in text: rs3088440
PubMed Link: 30719141
Variant Present in the following documents:
  • jcav10p0467.pdf
View BVdb publication page



A New Insight into the Roles of MiRNAs in Metabolic Syndrome.

Biomed Research International
Huang, Yuxiang Y; Yan, Yuxiang Y; Xv, Weicheng W; Qian, Ge G; Li, Chijian C; Zou, Hequn H; Li, Yongqiang Y
Publication Date: 2018

Variant appearance in text: rs3088440
PubMed Link: 30648107
Variant Present in the following documents:
  • Main text
  • BMRI2018-7372636.pdf
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: rs3088440
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: rs3088440
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1
View BVdb publication page



Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.

Journal Of Breast Cancer
Sirisena, Nirmala Dushyanthi ND; Adeyemo, Adebowale A; Kuruppu, Anchala Ishani AI; Samaranayake, Nilakshi N; Dissanayake, Vajira Harshadeva Weerabaddana VHW
Publication Date: 2018-06

Variant appearance in text: rs3088440
PubMed Link: 29963112
Variant Present in the following documents:
  • Main text
  • jbc-21-165.pdf
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Single nucleotide polymorphisms might influence chemotherapy induced nausea in women with breast cancer.

Clinical And Translational Radiation Oncology
Oliva, Delmy D; Nilsson, Mats M; Andersson, Bengt-Åke BÅ; Sharp, Lena L; Lewin, Freddi F; Laytragoon-Lewin, Nongnit N
Publication Date: 2017-02

Variant appearance in text: rs3088440
PubMed Link: 29657992
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: rs3088440
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 2
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 4
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A Multi-Locus Genetic Risk Score for Primary Open-Angle Glaucoma (POAG) Variants Is Associated with POAG Risk in a Mediterranean Population: Inverse Correlations with Plasma Vitamin C and E Concentrations.

International Journal Of Molecular Sciences
Zanon-Moreno, Vicente V; Ortega-Azorin, Carolina C; Asensio-Marquez, Eva M EM; Garcia-Medina, Jose J JJ; Pinazo-Duran, Maria D MD; Coltell, Oscar O; Ordovas, Jose M JM; Corella, Dolores D
Publication Date: 2017-11-01

Variant appearance in text: rs3088440
PubMed Link: 29104244
Variant Present in the following documents:
  • Main text
  • ijms-18-02302.pdf
View BVdb publication page



The Evolving Genomic Landscape of Barrett's Esophagus and Esophageal Adenocarcinoma.

Gastroenterology
Contino, Gianmarco G; Vaughan, Thomas L TL; Whiteman, David D; Fitzgerald, Rebecca C RC
Publication Date: 2017-09

Variant appearance in text: rs3088440
PubMed Link: 28716721
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3088440
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic variants of cell cycle pathway genes predict disease-free survival of hepatocellular carcinoma.

Cancer Medicine
Liu, Shun S; Yang, Tian-Bo TB; Nan, Yue-Li YL; Li, An-Hua AH; Pan, Dong-Xiang DX; Xu, Yang Y; Li, Shu S; Li, Ting T; Zeng, Xiao-Yun XY; Qiu, Xiao-Qiang XQ
Publication Date: 2017-07

Variant appearance in text: rs3088440
PubMed Link: 28639733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs3088440
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The impacts of single nucleotide polymorphisms in genes of cell cycle and NF-kB pathways on the efficacy and acute toxicities of radiotherapy in patients with nasopharyngeal carcinoma.

Oncotarget
Guo, Chengxian C; Huang, Yuling Y; Yu, Jingjing J; Liu, Lijuan L; Gong, Xiaochang X; Huang, Min M; Jiang, Chunling C; Liao, Yulu Y; Huang, Lihua L; Yang, Guoping G; Li, Jingao J
Publication Date: 2017-04-11

Variant appearance in text: rs3088440
PubMed Link: 28445979
Variant Present in the following documents:
  • Main text
  • oncotarget-08-25334.pdf
View BVdb publication page



The Role of p16 and MDM2 Gene Polymorphisms in Prolactinoma: MDM2 Gene Polymorphisms May Be Associated with Tumor Shrinkage.

In Vivo (Athens, Greece)
Turgut, Seda S; Ilhan, Muzaffer M; Turan, Saime S; Karaman, Ozcan O; Yaylim, Ilhan I; Kucukhuseyin, Ozlem O; Tasan, Ertugrul E
Publication Date: 2017

Variant appearance in text: rs3088440
PubMed Link: 28438863
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited variants in genes somatically mutated in thyroid cancer.

Plos One
Campo, Chiara C; Köhler, Aleksandra A; Figlioli, Gisella G; Elisei, Rossella R; Romei, Cristina C; Cipollini, Monica M; Bambi, Franco F; Hemminki, Kari K; Gemignani, Federica F; Landi, Stefano S; Försti, Asta A
Publication Date: 2017

Variant appearance in text: rs3088440
PubMed Link: 28410400
Variant Present in the following documents:
  • Main text
  • pone.0174995.pdf
View BVdb publication page



Cervical Cancer Genetic Susceptibility: A Systematic Review and Meta-Analyses of Recent Evidence.

Plos One
Martínez-Nava, Gabriela A GA; Fernández-Niño, Julián A JA; Madrid-Marina, Vicente V; Torres-Poveda, Kirvis K
Publication Date: 2016

Variant appearance in text: rs3088440
PubMed Link: 27415837
Variant Present in the following documents:
  • Main text
  • pone.0157344.pdf
View BVdb publication page



Relationships between cell cycle pathway gene polymorphisms and risk of hepatocellular carcinoma.

World Journal Of Gastroenterology
Nan, Yue-Li YL; Hu, Yan-Ling YL; Liu, Zhi-Ke ZK; Duan, Fang-Fang FF; Xu, Yang Y; Li, Shu S; Li, Ting T; Chen, Da-Fang DF; Zeng, Xiao-Yun XY
Publication Date: 2016-06-28

Variant appearance in text: rs3088440
PubMed Link: 27350734
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genetic variation in microRNA target site of ETS2 is associated with clinical outcomes of paclitaxel-cisplatin chemotherapy in non-small cell lung cancer.

Oncotarget
Hong, Mi Jeong MJ; Lee, Shin Yup SY; Choi, Jin Eun JE; Jin, Cheng Cheng CC; Kang, Hyo Jung HJ; Baek, Sun Ah SA; Lee, So Yeon SY; Shin, Kyung Min KM; Jeong, Ji Yun JY; Lee, Won Kee WK; Yoo, Seung Soo SS; Lee, Jaehee J; Cha, Seung Ick SI; Kim, Chang Ho CH; Son, Ji Woong JW; Park, Jae Yong JY
Publication Date: 2016-03-29

Variant appearance in text: rs3088440
PubMed Link: 26893365
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene Polymorphism Association with Type 2 Diabetes and Related Gene-Gene and Gene-Environment Interactions in a Uyghur Population.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Xiao, Shan S; Zeng, Xiaoyun X; Fan, Yong Y; Su, Yinxia Y; Ma, Qi Q; Zhu, Jun J; Yao, Hua H
Publication Date: 2016-02-13

Variant appearance in text: rs3088440
PubMed Link: 26873362
Variant Present in the following documents:
  • Main text
View BVdb publication page



The rs11515 Polymorphism Is More Frequent and Associated With Aggressive Breast Tumors with Increased ANRIL and Decreased p16 (INK4a) Expression.

Frontiers In Oncology
Royds, Janice A JA; Pilbrow, Anna P AP; Ahn, Antonio A; Morrin, Helen R HR; Frampton, Chris C; Russell, I Alasdair IA; Moravec, Christine S CS; Sweet, Wendy E WE; Tang, W H Wilson WH; Currie, Margaret J MJ; Hung, Noelyn A NA; Slatter, Tania L TL
Publication Date: 2015

Variant appearance in text: rs3088440
PubMed Link: 26835415
Variant Present in the following documents:
  • Main text
  • fonc-05-00306.pdf
View BVdb publication page



Genetic polymorphisms in apoptosis-related genes and the prognosis of hepatocellular carcinoma.

American Journal Of Cancer Research
Yu, Guo-Peng GP; Xiao, Qian-Yi QY; Shi, Zhu-Qing ZQ; Tang, Li-Sha LS; Ma, Xiao-Pin XP; Zhang, Lu-Yao LY; Chen, Hai-Tao HT; Wang, Wen-Jia WJ; Zhang, Peng-Yin PY; Ding, Dong-Lin DL; Huang, Hui-Xing HX; Saiyin, Hexige H; Chen, Tao-Yang TY; Lu, Pei-Xin PX; Wang, Neng-Jin NJ; Yu, Hong-Jie HJ; Sun, Jie-Lin JL; Zheng, S Lilly SL; Xu, Jian-Feng JF; Yu, Long L; Jiang, De-Ke DK
Publication Date: 2015

Variant appearance in text: rs3088440
PubMed Link: 26693075
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3088440
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

Hereditary Cancer In Clinical Practice
Harland, Mark M; Cust, Anne E AE; Badenas, Celia C; Chang, Yu-Mei YM; Holland, Elizabeth A EA; Aguilera, Paula P; Aitken, Joanne F JF; Armstrong, Bruce K BK; Barrett, Jennifer H JH; Carrera, Cristina C; Chan, May M; Gascoyne, Joanne J; Giles, Graham G GG; Agha-Hamilton, Chantelle C; Hopper, John L JL; Jenkins, Mark A MA; Kanetsky, Peter A PA; Kefford, Richard F RF; Kolm, Isabel I; Lowery, Johanna J; Malvehy, Josep J; Ogbah, Zighereda Z; Puig-Butille, Joan-Anton JA; Orihuela-Segalés, Jordi J; Randerson-Moor, Juliette A JA; Schmid, Helen H; Taylor, Claire F CF; Whitaker, Linda L; Bishop, D Timothy DT; Mann, Graham J GJ; Newton-Bishop, Julia A JA; Puig, Susana S
Publication Date: 2014

Variant appearance in text: rs3088440
PubMed Link: 25780468
Variant Present in the following documents:
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Epigenetic regulation in human melanoma: past and future.

Epigenetics
Sarkar, Debina D; Leung, Euphemia Y EY; Baguley, Bruce C BC; Finlay, Graeme J GJ; Askarian-Amiri, Marjan E ME
Publication Date: 2015

Variant appearance in text: rs3088440
PubMed Link: 25587943
Variant Present in the following documents:
  • Main text
  • kepi-10-02-1003746.pdf
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A Web-based database of genetic association studies in cutaneous melanoma enhanced with network-driven data exploration tools.

Database : The Journal Of Biological Databases And Curation
Athanasiadis, Emmanouil I EI; Antonopoulou, Kyriaki K; Chatzinasiou, Foteini F; Lill, Christina M CM; Bourdakou, Marilena M MM; Sakellariou, Argiris A; Kypreou, Katerina K; Stefanaki, Irene I; Evangelou, Evangelos E; Ioannidis, John P A JP; Bertram, Lars L; Stratigos, Alexander J AJ; Spyrou, George M GM
Publication Date: 2014

Variant appearance in text: rs3088440
PubMed Link: 25380778
Variant Present in the following documents:
  • bau101.pdf
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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15

Variant appearance in text: rs3088440
PubMed Link: 25347344
Variant Present in the following documents:
  • oncotarget-05-10596-s002.xlsx, sheet 4
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Integrative post-genome-wide association analysis of CDKN2A and TP53 SNPs and risk of esophageal adenocarcinoma.

Carcinogenesis
Buas, Matthew F MF; Levine, David M DM; Makar, Karen W KW; Utsugi, Heidi H; Onstad, Lynn L; Li, Xiaohong X; Galipeau, Patricia C PC; Shaheen, Nicholas J NJ; Hardie, Laura J LJ; Romero, Yvonne Y; Bernstein, Leslie L; Gammon, Marilie D MD; Casson, Alan G AG; Bird, Nigel C NC; Risch, Harvey A HA; Ye, Weimin W; Liu, Geoffrey G; Corley, Douglas A DA; Blount, Patricia L PL; Fitzgerald, Rebecca C RC; Whiteman, David C DC; Wu, Anna H AH; Reid, Brian J BJ; Vaughan, Thomas L TL
Publication Date: 2014-12

Variant appearance in text: rs3088440
PubMed Link: 25280564
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Effects of genetic variations on microRNA: target interactions.

Nucleic Acids Research
Liu, Chaochun C; Rennie, William A WA; Carmack, C Steven CS; Kanoria, Shaveta S; Cheng, Jijun J; Lu, Jun J; Ding, Ye Y
Publication Date: 2014-09

Variant appearance in text: rs3088440
PubMed Link: 25081214
Variant Present in the following documents:
  • Main text
  • gku675.pdf
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Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.

International Journal Of Cancer
Barrett, Jennifer H JH; Taylor, John C JC; Bright, Chloe C; Harland, Mark M; Dunning, Alison M AM; Akslen, Lars A LA; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Bianchi Scarrà, Giovanna G; Brossard, Myriam M; Brown, Kevin M KM; Dębniak, Tadeusz T; Elder, David E DE; Friedman, Eitan E; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Gruis, Nelleke A NA; Hansson, Johan J; Helsing, Per P; Hočevar, Marko M; Höiom, Veronica V; Ingvar, Christian C; Landi, Maria Teresa MT; Lang, Julie J; Lathrop, G Mark GM; Lubiński, Jan J; Mackie, Rona M RM; Molven, Anders A; Novaković, Srdjan S; Olsson, Håkan H; Puig, Susana S; Puig-Butille, Joan Anton JA; van der Stoep, Nienke N; van Doorn, Remco R; van Workum, Wilbert W; Goldstein, Alisa M AM; Kanetsky, Peter A PA; Pharoah, Paul D P PD; Demenais, Florence F; Hayward, Nicholas K NK; Newton Bishop, Julia A JA; Bishop, D Timothy DT; Iles, Mark M MM; ,
Publication Date: 2015-03-15

Variant appearance in text: rs3088440
PubMed Link: 25077817
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Association between p16(CDKN2A) C540G polymorphism and tumor behavior in prolactinoma: A single-center study.

Biomedical Reports
Cander, Soner S; Karkucak, Mutlu M; Gul, Ozen Oz OO; Sag, Sebnem Ozemri SO; Yakut, Tahsin T; Ersoy, Canan C; Tuncel, Ercan E; Erturk, Erdinc E
Publication Date: 2014-07

Variant appearance in text: rs3088440
PubMed Link: 24944814
Variant Present in the following documents:
  • Main text
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Potentially functional variants of p14ARF are associated with HPV-positive oropharyngeal cancer patients and survival after definitive chemoradiotherapy.

Carcinogenesis
Song, Xicheng X; Sturgis, Erich M EM; Huang, Zhigang Z; Li, Xiaodong X; Li, Chao C; Wei, Qingyi Q; Li, Guojun G
Publication Date: 2014-01

Variant appearance in text: rs3088440
PubMed Link: 24104554
Variant Present in the following documents:
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Variants at the 9p21 locus and melanoma risk.

Bmc Cancer
Maccioni, Livia L; Rachakonda, Panduranga Sivaramakrishna PS; Bermejo, Justo Lorenzo JL; Planelles, Dolores D; Requena, Celia C; Hemminki, Kari K; Nagore, Eduardo E; Kumar, Rajiv R
Publication Date: 2013-07-02

Variant appearance in text: rs3088440
PubMed Link: 23816148
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Genetic variants in p53-related genes confer susceptibility to second primary malignancy in patients with index squamous cell carcinoma of head and neck.

Carcinogenesis
Jin, Lei L; Sturgis, Erich M EM; Zhang, Yang Y; Huang, Zhigang Z; Wei, Peng P; Guo, Wei W; Wang, Zhongqiu Z; Wei, Qingyi Q; Song, Xicheng X; Li, Guojun G
Publication Date: 2013-07

Variant appearance in text: rs3088440
PubMed Link: 23508638
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Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study.

Plos One
Stefanaki, Irene I; Panagiotou, Orestis A OA; Kodela, Elisavet E; Gogas, Helen H; Kypreou, Katerina P KP; Chatzinasiou, Foteini F; Nikolaou, Vasiliki V; Plaka, Michaela M; Kalfa, Iro I; Antoniou, Christina C; Ioannidis, John P A JP; Evangelou, Evangelos E; Stratigos, Alexander J AJ
Publication Date: 2013

Variant appearance in text: rs3088440
PubMed Link: 23393597
Variant Present in the following documents:
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Significance of MDM2 and P14 ARF polymorphisms in susceptibility to differentiated thyroid carcinoma.

Surgery
Zhang, Fenghua F; Xu, Li L; Wei, Qingyi Q; Song, Xicheng X; Sturgis, Erich M EM; Li, Guojun G
Publication Date: 2013-05

Variant appearance in text: rs3088440
PubMed Link: 23218882
Variant Present in the following documents:
  • Main text
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Genetic variation in MDM2 and p14ARF and susceptibility to salivary gland carcinoma.

Plos One
Jin, Lei L; Xu, Li L; Song, Xicheng X; Wei, Qingyi Q; Sturgis, Erich M EM; Li, Guojun G
Publication Date: 2012

Variant appearance in text: rs3088440
PubMed Link: 23145162
Variant Present in the following documents:
  • Main text
  • pone.0049361.pdf
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The CDKN2A G500 allele is more frequent in GBM patients with no defined telomere maintenance mechanism tumors and is associated with poorer survival.

Plos One
Royds, Janice A JA; Al Nadaf, Shafagh S; Wiles, Anna K AK; Chen, Yu-Jen YJ; Ahn, Antonio A; Shaw, Alisha A; Bowie, Sara S; Lam, Frederic F; Baguley, Bruce C BC; Braithwaite, Antony W AW; MacFarlane, Martin R MR; Hung, Noelyn A NA; Slatter, Tania L TL
Publication Date: 2011

Variant appearance in text: rs3088440
PubMed Link: 22046342
Variant Present in the following documents:
  • Main text
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