CDKN2A c.*29G>C

Variant ID: 9-21968199-C-G

NM_000077.4(CDKN2A):c.*29G>C

This variant was identified in 87 publications

View GRCh38 version.




Publications:


Strong Cumulative Evidence of Associations of 6 Single Nucleotide Polymorphisms with Ovarian Cancer Risk: An Umbrella Review.

Journal Of Clinical Medicine
Huo, Ying-Jun YJ; Li, Xiao-Ying XY; Zhang, Meng M; Gao, Chang C; Xiao, Qian Q; Zhao, Yu-Hong YH; Gao, Song S; Gong, Ting-Ting TT; Wu, Qi-Jun QJ
Publication Date: 2023-03-03

Variant appearance in text: rs11515
PubMed Link: 36902812
Variant Present in the following documents:
  • jcm-12-02025.pdf
View BVdb publication page



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: rs11515
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: rs11515
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Migration/Differentiation-Associated LncRNA SENCR rs12420823*C/T: A Novel Gene Variant Can Predict Survival and Recurrence in Patients with Breast Cancer.

Genes
Al Ageeli, Essam E; Attallah, Samy M SM; Mohamed, Marwa Hussein MH; Almars, Amany I AI; Kattan, Shahad W SW; Toraih, Eman A EA; Fawzy, Manal S MS; Darwish, Marwa K MK
Publication Date: 2022-10-31

Variant appearance in text: rs11515
PubMed Link: 36360233
Variant Present in the following documents:
  • Main text
  • genes-13-01996.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: rs11515
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Characterization of aging cancer-associated fibroblasts draws implications in prognosis and immunotherapy response in low-grade gliomas.

Frontiers In Genetics
Zhou, Zijian Z; Wei, Jinhong J; Kuang, Lijun L; Zhang, Ke K; Liu, Yini Y; He, Zhongming Z; Li, Luo L; Lu, Bin B
Publication Date: 2022

Variant appearance in text: rs11515
PubMed Link: 36092895
Variant Present in the following documents:
  • fgene-13-897083.pdf
View BVdb publication page



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: rs11515
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: rs11515
PubMed Link: 35743641
Variant Present in the following documents:
  • Main text
  • 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: rs11515
PubMed Link: 35637613
Variant Present in the following documents:
  • Main text
  • CAM4-12-541.pdf
View BVdb publication page



Genetic Alteration Analysis of IDH1, IDH2, CDKN2A, MYB and MYBL1 in Pediatric Low-Grade Gliomas.

Frontiers In Surgery
Barinfeld, Orit O; Zahavi, Alon A; Weiss, Shirel S; Toledano, Helen H; Michowiz, Shalom S; Goldenberg-Cohen, Nitza N
Publication Date: 2022

Variant appearance in text: rs11515
PubMed Link: 35574540
Variant Present in the following documents:
  • Main text
  • fsurg-09-880048.pdf
View BVdb publication page



Association between ТР53, MDM2 and NQO1 gene polymorphisms and viral load among women with human papillomavirus.

Vavilovskii Zhurnal Genetiki I Selektsii
AlBosale, A H AH; Mashkina, E V EV
Publication Date: 2022-02

Variant appearance in text: rs11515
PubMed Link: 35342856
Variant Present in the following documents:
  • VJGB-26-2209.pdf
View BVdb publication page



Disease-Associated Risk Variants in ANRIL Are Associated with Tumor-Infiltrating Lymphocyte Presence in Primary Melanomas in the Population-Based GEM Study.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Edmiston, Sharon N SN; Conway, Kathleen K; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2021-12

Variant appearance in text: rs11515
PubMed Link: 34607836
Variant Present in the following documents:
  • Main text
  • 2309.pdf
View BVdb publication page



Long Non-Coding RNAs as Potential Diagnostic and Prognostic Biomarkers in Breast Cancer: Progress and Prospects.

Frontiers In Oncology
Lu, Cuicui C; Wei, Duncan D; Zhang, Yahui Y; Wang, Peng P; Zhang, Wen W
Publication Date: 2021

Variant appearance in text: rs11515
PubMed Link: 34527584
Variant Present in the following documents:
  • Main text
  • fonc-11-710538.pdf
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: rs11515
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs11515
PubMed Link: 33910831
Variant Present in the following documents:
  • Main text
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: rs11515
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: rs11515
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.

Scientific Reports
Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ
Publication Date: 2021-01-15

Variant appearance in text: rs11515
PubMed Link: 33452395
Variant Present in the following documents:
  • 41598_2021_81000_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief
Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G
Publication Date: 2021-02

Variant appearance in text: rs11515
PubMed Link: 33365374
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



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: rs11515
PubMed Link: 33330845
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page



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: rs11515
PubMed Link: 33226370
Variant Present in the following documents:
  • Main text
View BVdb publication page



CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study.

Biomed Research International
Tovar-Parra, Jose D JD; Gutiérrez-Castañeda, Luz D LD; Gil-Quiñones, Sebastián R SR; Nova, Jhon A JA; Pulido, Leonardo L
Publication Date: 2020

Variant appearance in text: rs11515
PubMed Link: 33102592
Variant Present in the following documents:
  • BMRI2020-7458917.pdf
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs11515
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Intronic TP53 Polymorphisms Are Associated with Increased Δ133TP53 Transcript, Immune Infiltration and Cancer Risk.

Cancers
Eiholzer, Ramona A RA; Mehta, Sunali S; Kazantseva, Marina M; Drummond, Catherine J CJ; McKinney, Cushla C; Young, Katie K; Slater, David D; Morten, Brianna C BC; Avery-Kiejda, Kelly A KA; Lasham, Annette A; Fleming, Nicholas N; Morrin, Helen R HR; Reader, Karen K; Royds, Janice A JA; Landmann, Michael M; Petrich, Simone S; Reddel, Roger R; Huschtscha, Lily L; Taha, Ahmad A; Hung, Noelyn A NA; Slatter, Tania L TL; Braithwaite, Antony W AW
Publication Date: 2020-09-01

Variant appearance in text: rs11515
PubMed Link: 32882831
Variant Present in the following documents:
  • cancers-12-02472.pdf
View BVdb publication page



The genomic landscape of Mongolian hepatocellular carcinoma.

Nature Communications
Candia, Julián J; Bayarsaikhan, Enkhjargal E; Tandon, Mayank M; Budhu, Anuradha A; Forgues, Marshonna M; Tovuu, Lkhagva-Ochir LO; Tudev, Undarmaa U; Lack, Justin J; Chao, Ann A; Chinburen, Jigjidsuren J; Wang, Xin Wei XW
Publication Date: 2020-09-01

Variant appearance in text: rs11515
PubMed Link: 32873799
Variant Present in the following documents:
  • 41467_2020_18186_MOESM20_ESM.xlsx, sheet 1
View BVdb publication page



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: rs11515
PubMed Link: 32867815
Variant Present in the following documents:
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3
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: rs11515
PubMed Link: 32547095
Variant Present in the following documents:
  • ott-13-4649.pdf
View BVdb publication page



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: rs11515
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Modulatory Role of Single Nucleotide Polymorphisms of Distinct Genetic Pathways on Clinical Behavior of Medullary Thyroid Carcinoma.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R
Publication Date: 2020-05-01

Variant appearance in text: rs11515
PubMed Link: 32458635
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11515
PubMed Link: 32443295
Variant Present in the following documents:
  • medi-99-e19941.pdf
View BVdb publication page



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: rs11515
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
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: rs11515
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Frequent alterations in p16/CDKN2A identified by immunohistochemistry and FISH in chordoma.

The Journal Of Pathology. Clinical Research
Cottone, Lucia L; Eden, Nadia N; Usher, Inga I; Lombard, Patrick P; Ye, Hongtao H; Ligammari, Lorena L; Lindsay, Daniel D; Brandner, Sebastian S; Pižem, Jože J; Pillay, Nischalan N; Tirabosco, Roberto R; Amary, Fernanda F; Flanagan, Adrienne M AM
Publication Date: 2020-04

Variant appearance in text: rs11515
PubMed Link: 31916407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Establishment and characterization of novel human primary endometrial cancer cell line (ZJB-ENC1) and its genomic characteristic.

Journal Of Cancer
Liu, Xiaozhen X; Ren, Zhuozhuo Z; Xu, Yu Y; Sun, Wei W; Li, Yongfeng Y; Rui, Xinmiao X; Xie, Dafei D; Meng, Xuli X; Zheng, Zhiguo Z
Publication Date: 2019

Variant appearance in text: rs11515
PubMed Link: 31772679
Variant Present in the following documents:
  • Main text
  • jcav10p6466.pdf
View BVdb publication page



MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs11515
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
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: rs11515
PubMed Link: 31597922
Variant Present in the following documents:
  • 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 3
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 2
View BVdb publication page



Long Non-coding RNA ANRIL in the Nucleus Associates With Periostin Expression in Breast Cancer.

Frontiers In Oncology
Mehta-Mujoo, Paulomi M PM; Cunliffe, Heather E HE; Hung, Noelyn A NA; Slatter, Tania L TL
Publication Date: 2019

Variant appearance in text: rs11515
PubMed Link: 31572679
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs11515
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.

Cancer Medicine
Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R
Publication Date: 2019-10

Variant appearance in text: rs11515
PubMed Link: 31408923
Variant Present in the following documents:
  • Main text
  • CAM4-8-6151.pdf
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: rs11515
PubMed Link: 30719141
Variant Present in the following documents:
  • jcav10p0467.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: rs11515
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: rs11515
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.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: rs11515
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1
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: rs11515
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 3
View BVdb publication page



Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece.

Cancers
Kontogianni, Georgia G; Piroti, Georgia G; Maglogiannis, Ilias I; Chatziioannou, Aristotelis A; Papadodima, Olga O
Publication Date: 2018-03-29

Variant appearance in text: rs11515
PubMed Link: 29596374
Variant Present in the following documents:
  • Main text
  • cancers-10-00096.pdf
View BVdb publication page



Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget
Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG
Publication Date: 2017-12-19

Variant appearance in text: rs11515
PubMed Link: 29340109
Variant Present in the following documents:
  • oncotarget-08-112036-s003.xlsx, sheet 1
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: rs11515
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



ANRIL Genetic Variants in Iranian Breast Cancer Patients.

Cell Journal
Khorshidi, Hamid Reza HR; Taheri, Mohammad M; Noroozi, Rezvan R; Sarrafzadeh, Shaghayegh S; Sayad, Arezou A; Ghafouri-Fard, Soudeh S
Publication Date: 2017

Variant appearance in text: rs11515
PubMed Link: 28580310
Variant Present in the following documents:
  • Main text
  • Cell-J-19-Suppl1-72.pdf
View BVdb publication page



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: rs11515
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
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: rs11515
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: rs11515
PubMed Link: 28410400
Variant Present in the following documents:
  • Main text
View BVdb publication page



A three-long noncoding RNA signature as a diagnostic biomarker for differentiating between triple-negative and non-triple-negative breast cancers.

Medicine
Liu, Man M; Xing, Lu-Qi LQ; Liu, Yi-Jing YJ
Publication Date: 2017-03

Variant appearance in text: rs11515
PubMed Link: 28248879
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common germline variants within the CDKN2A/2B region affect risk of pancreatic neuroendocrine tumors.

Scientific Reports
Campa, Daniele D; Capurso, Gabriele G; Pastore, Manuela M; Talar-Wojnarowska, Renata R; Milanetto, Anna Caterina AC; Landoni, Luca L; Maiello, Evaristo E; Lawlor, Rita T RT; Malecka-Panas, Ewa E; Funel, Niccola N; Gazouli, Maria M; De Bonis, Antonio A; Klüter, Harald H; Rinzivillo, Maria M; Delle Fave, Gianfranco G; Hackert, Thilo T; Landi, Stefano S; Bugert, Peter P; Bambi, Franco F; Archibugi, Livia L; Scarpa, Aldo A; Katzke, Verena V; Dervenis, Christos C; Liço, Valbona V; Furlanello, Sara S; Strobel, Oliver O; Tavano, Francesca F; Basso, Daniela D; Kaaks, Rudolf R; Pasquali, Claudio C; Gentiluomo, Manuel M; Rizzato, Cosmeri C; Canzian, Federico F
Publication Date: 2016-12-23

Variant appearance in text: rs11515
PubMed Link: 28008994
Variant Present in the following documents:
  • Main text
  • srep39565.pdf
View BVdb publication page



Two gene polymorphisms (rs4977756 and rs11515) in CDKN2A/B and glioma risk in South Indian population.

Meta Gene
Sibin, M K MK; Dhananjaya, I Bhat IB; Narasingarao, K V L KV; Harshitha, S M SM; Jeru-Manoj, M M; Chetan, G K GK
Publication Date: 2016-09

Variant appearance in text: rs11515
PubMed Link: 27617221
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional single nucleotide polymorphisms within the cyclin-dependent kinase inhibitor 2A/2B region affect pancreatic cancer risk.

Oncotarget
Campa, Daniele D; Pastore, Manuela M; Gentiluomo, Manuel M; Talar-Wojnarowska, Renata R; Kupcinskas, Juozas J; Malecka-Panas, Ewa E; Neoptolemos, John P JP; Niesen, Willem W; Vodicka, Pavel P; Delle Fave, Gianfranco G; Bueno-de-Mesquita, H Bas HB; Gazouli, Maria M; Pacetti, Paola P; Di Leo, Milena M; Ito, Hidemi H; Klüter, Harald H; Soucek, Pavel P; Corbo, Vincenzo V; Yamao, Kenji K; Hosono, Satoyo S; Kaaks, Rudolf R; Vashist, Yogesh Y; Gioffreda, Domenica D; Strobel, Oliver O; Shimizu, Yasuhiro Y; Dijk, Frederike F; Andriulli, Angelo A; Ivanauskas, Audrius A; Bugert, Peter P; Tavano, Francesca F; Vodickova, Ludmila L; Zambon, Carlo Federico CF; Lovecek, Martin M; Landi, Stefano S; Key, Timothy J TJ; Boggi, Ugo U; Pezzilli, Raffaele R; Jamroziak, Krzysztof K; Mohelnikova-Duchonova, Beatrice B; Mambrini, Andrea A; Bambi, Franco F; Busch, Olivier O; Pazienza, Valerio V; Valente, Roberto R; Theodoropoulos, George E GE; Hackert, Thilo T; Capurso, Gabriele G; Cavestro, Giulia Martina GM; Pasquali, Claudio C; Basso, Daniela D; Sperti, Cosimo C; Matsuo, Keitaro K; Büchler, Markus M; Khaw, Kay-Tee KT; Izbicki, Jakob J; Costello, Eithne E; Katzke, Verena V; Michalski, Christoph C; Stepien, Anna A; Rizzato, Cosmeri C; Canzian, Federico F
Publication Date: 2016-08-30

Variant appearance in text: rs11515
PubMed Link: 27486979
Variant Present in the following documents:
  • Main text
  • oncotarget-07-57011.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: rs11515
PubMed Link: 27415837
Variant Present in the following documents:
  • Main text
  • pone.0157344.pdf
View BVdb publication page



Multivariate models from RNA-Seq SNVs yield candidate molecular targets for biomarker discovery: SNV-DA.

Bmc Genomics
Paul, Matt R MR; Levitt, Nicholas P NP; Moore, David E DE; Watson, Patricia M PM; Wilson, Robert C RC; Denlinger, Chadrick E CE; Watson, Dennis K DK; Anderson, Paul E PE
Publication Date: 2016-03-31

Variant appearance in text: rs11515
PubMed Link: 27029813
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: rs11515
PubMed Link: 26873362
Variant Present in the following documents:
  • Main text
View BVdb publication page