CCND1 c.*65C>A

Variant ID: 11-69466115-C-A

NM_053056.2(CCND1):c.*65C>A

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Aberrant Cyclin D1 splicing in cancer: from molecular mechanism to therapeutic modulation.

Cell Death & Disease
Wang, Jing J; Su, Wei W; Zhang, Taotao T; Zhang, Shasha S; Lei, Huiwen H; Ma, Fengdie F; Shi, Maoning M; Shi, Wenjing W; Xie, Xiaodong X; Di, Cuixia C
Publication Date: 2023-04-06

Variant appearance in text: rs7177
PubMed Link: 37024471
Variant Present in the following documents:
  • Main text
  • 41419_2023_Article_5763.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: rs7177
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs7177
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



The renal lineage factor PAX8 controls oncogenic signalling in kidney cancer.

Nature
Patel, Saroor A SA; Hirosue, Shoko S; Rodrigues, Paulo P; Vojtasova, Erika E; Richardson, Emma K EK; Ge, Jianfeng J; Syafruddin, Saiful E SE; Speed, Alyson A; Papachristou, Evangelia K EK; Baker, David D; Clarke, David D; Purvis, Stephenie S; Wesolowski, Ludovic L; Dyas, Anna A; Castillon, Leticia L; Caraffini, Veronica V; Bihary, Dóra D; Yong, Cissy C; Harrison, David J DJ; Stewart, Grant D GD; Machiela, Mitchell J MJ; Purdue, Mark P MP; Chanock, Stephen J SJ; Warren, Anne Y AY; Samarajiwa, Shamith A SA; Carroll, Jason S JS; Vanharanta, Sakari S
Publication Date: 2022-06

Variant appearance in text: rs7177
PubMed Link: 35676472
Variant Present in the following documents:
  • Main text
  • 41586_2022_4809_MOESM3_ESM.pdf
  • 41586_2022_4809_MOESM1_ESM.pdf
  • 41586_2022_Article_4809.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: rs7177
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs7177
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: rs7177
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.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: rs7177
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs7177
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, 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: rs7177
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.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: rs7177
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 6
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: rs7177
PubMed Link: 29963112
Variant Present in the following documents:
  • Main text
  • jbc-21-165.pdf
View BVdb publication page



SP8 Transcriptional Regulation of Cyclin D1 During Mouse Early Corticogenesis.

Frontiers In Neuroscience
Borello, Ugo U; Berarducci, Barbara B; Delahaye, Edwige E; Price, David J DJ; Dehay, Colette C
Publication Date: 2018

Variant appearance in text: rs7177
PubMed Link: 29599703
Variant Present in the following documents:
  • Main text
  • fnins-12-00119.pdf
View BVdb publication page



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: rs7177
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Genetic polymorphisms in cyclin D1 are associated with risk of renal cell cancer in the Chinese population.

Oncotarget
Xue, Jianxin J; Qin, Zhiqiang Z; Li, Xiao X; Zhang, Jianzhong J; Zheng, Yuxiao Y; Xu, Weizhang W; Cao, Qiang Q; Wang, Zengjun Z
Publication Date: 2017-10-06

Variant appearance in text: rs7177
PubMed Link: 29113352
Variant Present in the following documents:
  • Main text
  • oncotarget-08-80889.pdf
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: rs7177
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Polymorphisms of microRNA target genes IL12B, INSR, CCND1 and IL10 in gastric cancer.

World Journal Of Gastroenterology
Petkevicius, Vytenis V; Salteniene, Violeta V; Juzenas, Simonas S; Wex, Thomas T; Link, Alexander A; Leja, Marcis M; Steponaitiene, Ruta R; Skieceviciene, Jurgita J; Kupcinskas, Limas L; Jonaitis, Laimas L; Kiudelis, Gediminas G; Malfertheiner, Peter P; Kupcinskas, Juozas J
Publication Date: 2017-05-21

Variant appearance in text: rs7177
PubMed Link: 28596683
Variant Present in the following documents:
  • Main text
  • WJG-23-3480.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: rs7177
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
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: rs7177
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



A single-nucleotide polymorphism in the 3'-UTR region of the adipocyte fatty acid binding protein 4 gene is associated with prognosis of triple-negative breast cancer.

Oncotarget
Wang, Wenmiao W; Yuan, Peng P; Yu, Dianke D; Du, Feng F; Zhu, Anjie A; Li, Qing Q; Zhang, Pin P; Lin, Dongxin D; Xu, Binghe B
Publication Date: 2016-04-05

Variant appearance in text: rs7177
PubMed Link: 26959740
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium.

Human Genetics
Lei, Jieping J; Rudolph, Anja A; Moysich, Kirsten B KB; Behrens, Sabine S; Goode, Ellen L EL; Bolla, Manjeet K MK; Dennis, Joe J; Dunning, Alison M AM; Easton, Douglas F DF; Wang, Qin Q; Benitez, Javier J; Hopper, John L JL; Southey, Melissa C MC; Schmidt, Marjanka K MK; Broeks, Annegien A; Fasching, Peter A PA; Haeberle, Lothar L; Peto, Julian J; Dos-Santos-Silva, Isabel I; Sawyer, Elinor J EJ; Tomlinson, Ian I; Burwinkel, Barbara B; Marmé, Frederik F; Guénel, Pascal P; Truong, Thérèse T; Bojesen, Stig E SE; Flyger, Henrik H; Nielsen, Sune F SF; Nordestgaard, Børge G BG; González-Neira, Anna A; Menéndez, Primitiva P; Anton-Culver, Hoda H; Neuhausen, Susan L SL; Brenner, Hermann H; Arndt, Volker V; Meindl, Alfons A; Schmutzler, Rita K RK; Brauch, Hiltrud H; Hamann, Ute U; Nevanlinna, Heli H; Fagerholm, Rainer R; Dörk, Thilo T; Bogdanova, Natalia V NV; Mannermaa, Arto A; Hartikainen, Jaana M JM; , ; , ; Van Dijck, Laurien L; Smeets, Ann A; Flesch-Janys, Dieter D; Eilber, Ursula U; Radice, Paolo P; Peterlongo, Paolo P; Couch, Fergus J FJ; Hallberg, Emily E; Giles, Graham G GG; Milne, Roger L RL; Haiman, Christopher A CA; Schumacher, Fredrick F; Simard, Jacques J; Goldberg, Mark S MS; Kristensen, Vessela V; Borresen-Dale, Anne-Lise AL; Zheng, Wei W; Beeghly-Fadiel, Alicia A; Winqvist, Robert R; Grip, Mervi M; Andrulis, Irene L IL; Glendon, Gord G; García-Closas, Montserrat M; Figueroa, Jonine J; Czene, Kamila K; Brand, Judith S JS; Darabi, Hatef H; Eriksson, Mikael M; Hall, Per P; Li, Jingmei J; Cox, Angela A; Cross, Simon S SS; Pharoah, Paul D P PD; Shah, Mitul M; Kabisch, Maria M; Torres, Diana D; Jakubowska, Anna A; Lubinski, Jan J; Ademuyiwa, Foluso F; Ambrosone, Christine B CB; Swerdlow, Anthony A; Jones, Michael M; Chang-Claude, Jenny J
Publication Date: 2016-01

Variant appearance in text: rs7177
PubMed Link: 26621531
Variant Present in the following documents:
  • Main text
  • 439_2015_Article_1616.pdf
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: rs7177
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs7177
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs7177
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression.

Nature Genetics
Schödel, Johannes J; Bardella, Chiara C; Sciesielski, Lina K LK; Brown, Jill M JM; Pugh, Chris W CW; Buckle, Veronica V; Tomlinson, Ian P IP; Ratcliffe, Peter J PJ; Mole, David R DR
Publication Date: 2012-03-11

Variant appearance in text: rs7177
PubMed Link: 22406644
Variant Present in the following documents:
  • Main text
  • ukmss-40974.pdf
View BVdb publication page



Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients.

Journal Of Human Genetics
Bonilla, Carolina C; Lefèvre, Jérémie H JH; Winney, Bruce B; Johnstone, Elaine E; Tonks, Susan S; Colas, Chrystelle C; Day, Tammy T; Hutnik, Katarzyna K; Boumertit, Abdelhamid A; Midgley, Rachel R; Kerr, David D; Parc, Yann Y; Bodmer, Walter F WF
Publication Date: 2011-01

Variant appearance in text: rs7177
PubMed Link: 21107342
Variant Present in the following documents:
  • Main text
View BVdb publication page



EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.

Carcinogenesis
Mason, Rebecca A RA; Morlock, Elaine V EV; Karagas, Margaret R MR; Kelsey, Karl T KT; Marsit, Carmen J CJ; Schned, Alan R AR; Andrew, Angeline S AS
Publication Date: 2009-07

Variant appearance in text: rs7177
PubMed Link: 19372140
Variant Present in the following documents:
  • Main text
View BVdb publication page