CAMK1 c.912+92C>T

Variant ID: 3-9801080-G-A

NM_003656.4(CAMK1):c.912+92C>T

This variant was identified in 22 publications

View GRCh38 version.




Publications:


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

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2304277
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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Identifying the Role of Oxidative Stress-Related Genes as Prognostic Biomarkers and Predicting the Response of Immunotherapy and Chemotherapy in Ovarian Cancer.

Oxidative Medicine And Cellular Longevity
Liu, Qingyang Q; Yang, Xiaocheng X; Yin, Yuhan Y; Zhang, Hao H; Yin, Fanxing F; Guo, Panpan P; Zhang, Xiaoxu X; Sun, Chenxi C; Li, Shining S; Han, Yanshuo Y; Yang, Zhuo Z
Publication Date: 2022

Variant appearance in text: rs2304277
PubMed Link: 36561981
Variant Present in the following documents:
  • OMCL2022-6575534.pdf
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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: rs2304277
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Clinical challenges in interpreting multiple pathogenic mutations in single patients.

Hereditary Cancer In Clinical Practice
Slaught, Christa C; Berry, Elizabeth G EG; Bacik, Lindsay L; Skalet, Alison H AH; Anadiotis, George G; Tuohy, Therese T; Leachman, Sancy A SA
Publication Date: 2021-02-04

Variant appearance in text: rs2304277
PubMed Link: 33541411
Variant Present in the following documents:
  • Main text
  • 13053_2021_Article_172.pdf
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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: CAMK1: 912+92C>T; rs2304277
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
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DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome.

Cancers
Tomasova, Kristyna K; Cumova, Andrea A; Seborova, Karolina K; Horak, Josef J; Koucka, Kamila K; Vodickova, Ludmila L; Vaclavikova, Radka R; Vodicka, Pavel P
Publication Date: 2020-06-28

Variant appearance in text: rs2304277
PubMed Link: 32605254
Variant Present in the following documents:
  • Main text
  • cancers-12-01713.pdf
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Systematic Review: Genetic Associations for Prognostic Factors of Urinary Bladder Cancer.

Biomarkers In Cancer
Lipunova, Nadezda N; Wesselius, Anke A; Cheng, Kar K KK; van Schooten, Frederik J FJ; Cazier, Jean-Baptiste JB; Bryan, Richard T RT; Zeegers, Maurice P MP
Publication Date: 2019

Variant appearance in text: rs2304277
PubMed Link: 31908559
Variant Present in the following documents:
  • Supplementary_Tables_1_12_Sep24_xyz268777d1d25d8.pdf
  • 10.1177_1179299X19897255.pdf
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Synthetic lethality between BRCA1 deficiency and poly(ADP-ribose) polymerase inhibition is modulated by processing of endogenous oxidative DNA damage.

Nucleic Acids Research
Giovannini, Sara S; Weller, Marie-Christine MC; Repmann, Simone S; Moch, Holger H; Jiricny, Josef J
Publication Date: 2019-09-26

Variant appearance in text: rs2304277
PubMed Link: 31329989
Variant Present in the following documents:
  • Main text
  • gkz624.pdf
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A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers.

Molecular Oncology
Baquero, Juan Miguel JM; Benítez-Buelga, Carlos C; Fernández, Victoria V; Urioste, Miguel M; García-Giménez, Jose Luis JL; Perona, Rosario R; , ; Benítez, Javier J; Osorio, Ana A
Publication Date: 2019-05

Variant appearance in text: rs2304277
PubMed Link: 30747491
Variant Present in the following documents:
  • Main text
  • MOL2-13-1110.pdf
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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: rs2304277
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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Allelic interaction effects of DNA damage and repair genes on the predisposition to age-related cataract.

Plos One
Yang, Mei M; Zhang, Junfang J; Su, Shu S; Qin, Bai B; Kang, Lihua L; Zhu, Rongrong R; Guan, Huaijin H
Publication Date: 2018

Variant appearance in text: rs2304277
PubMed Link: 29689049
Variant Present in the following documents:
  • Main text
  • pone.0184478.pdf
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Association of Smoking and XPG, CYP1A1, OGG1, ERCC5, ERCC1, MMP2, and MMP9 Gene Polymorphisms with the early detection and occurrence of Laryngeal Squamous Carcinoma.

Journal Of Cancer
Zhu, Yi Y; Guo, Luo L; Wang, ShengZi S; Yu, Qun Q; Lu, JianXiong J
Publication Date: 2018

Variant appearance in text: rs2304277
PubMed Link: 29581776
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers.

Oncotarget
Benítez-Buelga, Carlos C; Baquero, Juan Miguel JM; Vaclova, Tereza T; Fernández, Victoria V; Martín, Paloma P; Inglada-Perez, Lucia L; Urioste, Miguel M; Osorio, Ana A; Benítez, Javier J
Publication Date: 2017-12-29

Variant appearance in text: rs2304277
PubMed Link: 29383107
Variant Present in the following documents:
  • Main text
  • oncotarget-08-114626.pdf
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2304277
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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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: rs2304277
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis.

Plos One
Wu, Xiaohang X; Lai, Weiyi W; Lin, Haotian H; Liu, Yizhi Y
Publication Date: 2017

Variant appearance in text: rs2304277
PubMed Link: 28253266
Variant Present in the following documents:
  • Main text
  • pone.0172092.pdf
View BVdb publication page



Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.

Oncotarget
Benitez-Buelga, Carlos C; Vaclová, Tereza T; Ferreira, Sofia S; Urioste, Miguel M; Inglada-Perez, Lucia L; Soberón, Nora N; Blasco, Maria A MA; Osorio, Ana A; Benitez, Javier J
Publication Date: 2016-05-03

Variant appearance in text: rs2304277
PubMed Link: 27015555
Variant Present in the following documents:
  • Main text
  • oncotarget-07-25815.pdf
  • oncotarget-07-25815-s001.pdf
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Oxidative stress in susceptibility to breast cancer: study in Spanish population.

Bmc Cancer
Rodrigues, Patricia P; de Marco, Griselda G; Furriol, Jessica J; Mansego, Maria Luisa ML; Pineda-Alonso, Mónica M; Gonzalez-Neira, Anna A; Martin-Escudero, Juan Carlos JC; Benitez, Javier J; Lluch, Ana A; Chaves, Felipe J FJ; Eroles, Pilar P
Publication Date: 2014-11-21

Variant appearance in text: rs2304277
PubMed Link: 25416100
Variant Present in the following documents:
  • Main text
  • 12885_2014_Article_5048.pdf
View BVdb publication page



Selenoprotein and antioxidant genes and the risk of high-grade prostate cancer and prostate cancer recurrence.

The Prostate
Gerstenberger, John P JP; Bauer, Scott R SR; Van Blarigan, Erin L EL; Sosa, Eduardo E; Song, Xiaoling X; Witte, John S JS; Carroll, Peter R PR; Chan, June M JM
Publication Date: 2015-01

Variant appearance in text: rs2304277
PubMed Link: 25284284
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Plos Genetics
Osorio, Ana A; Milne, Roger L RL; Kuchenbaecker, Karoline K; Vaclová, Tereza T; Pita, Guillermo G; Alonso, Rosario R; Peterlongo, Paolo P; Blanco, Ignacio I; de la Hoya, Miguel M; Duran, Mercedes M; Díez, Orland O; Ramón Y Cajal, Teresa T; Konstantopoulou, Irene I; Martínez-Bouzas, Cristina C; Andrés Conejero, Raquel R; Soucy, Penny P; McGuffog, Lesley L; Barrowdale, Daniel D; Lee, Andrew A; , ; Arver, Brita B; Rantala, Johanna J; Loman, Niklas N; Ehrencrona, Hans H; Olopade, Olufunmilayo I OI; Beattie, Mary S MS; Domchek, Susan M SM; Nathanson, Katherine K; Rebbeck, Timothy R TR; Arun, Banu K BK; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; John, Esther M EM; Whittemore, Alice S AS; Daly, Mary B MB; Southey, Melissa M; Hopper, John J; Terry, Mary B MB; Buys, Saundra S SS; Janavicius, Ramunas R; Dorfling, Cecilia M CM; van Rensburg, Elizabeth J EJ; Steele, Linda L; Neuhausen, Susan L SL; Ding, Yuan Chun YC; Hansen, Thomas V O TV; Jønson, Lars L; Ejlertsen, Bent B; Gerdes, Anne-Marie AM; Infante, Mar M; Herráez, Belén B; Moreno, Leticia Thais LT; Weitzel, Jeffrey N JN; Herzog, Josef J; Weeman, Kisa K; Manoukian, Siranoush S; Peissel, Bernard B; Zaffaroni, Daniela D; Scuvera, Giulietta G; Bonanni, Bernardo B; Mariette, Frederique F; Volorio, Sara S; Viel, Alessandra A; Varesco, Liliana L; Papi, Laura L; Ottini, Laura L; Tibiletti, Maria Grazia MG; Radice, Paolo P; Yannoukakos, Drakoulis D; Garber, Judy J; Ellis, Steve S; Frost, Debra D; Platte, Radka R; Fineberg, Elena E; Evans, Gareth G; Lalloo, Fiona F; Izatt, Louise L; Eeles, Ros R; Adlard, Julian J; Davidson, Rosemarie R; Cole, Trevor T; Eccles, Diana D; Cook, Jackie J; Hodgson, Shirley S; Brewer, Carole C; Tischkowitz, Marc M; Douglas, Fiona F; Porteous, Mary M; Side, Lucy L; Walker, Lisa L; Morrison, Patrick P; Donaldson, Alan A; Kennedy, John J; Foo, Claire C; Godwin, Andrew K AK; Schmutzler, Rita Katharina RK; Wappenschmidt, Barbara B; Rhiem, Kerstin K; Engel, Christoph C; Meindl, Alfons A; Ditsch, Nina N; Arnold, Norbert N; Plendl, Hans Jörg HJ; Niederacher, Dieter D; Sutter, Christian C; Wang-Gohrke, Shan S; Steinemann, Doris D; Preisler-Adams, Sabine S; Kast, Karin K; Varon-Mateeva, Raymonda R; Gehrig, Andrea A; Stoppa-Lyonnet, Dominique D; Sinilnikova, Olga M OM; Mazoyer, Sylvie S; Damiola, Francesca F; Poppe, Bruce B; Claes, Kathleen K; Piedmonte, Marion M; Tucker, Kathy K; Backes, Floor F; Rodríguez, Gustavo G; Brewster, Wendy W; Wakeley, Katie K; Rutherford, Thomas T; Caldés, Trinidad T; Nevanlinna, Heli H; Aittomäki, Kristiina K; Rookus, Matti A MA; van Os, Theo A M TA; van der Kolk, Lizet L; de Lange, J L JL; Meijers-Heijboer, Hanne E J HE; van der Hout, A H AH; van Asperen, Christi J CJ; Gómez Garcia, Encarna B EB; Hoogerbrugge, Nicoline N; Collée, J Margriet JM; van Deurzen, Carolien H M CH; van der Luijt, Rob B RB; Devilee, Peter P; , ; Olah, Edith E; Lázaro, Conxi C; Teulé, Alex A; Menéndez, Mireia M; Jakubowska, Anna A; Cybulski, Cezary C; Gronwald, Jacek J; Lubinski, Jan J; Durda, Katarzyna K; Jaworska-Bieniek, Katarzyna K; Johannsson, Oskar Th OT; Maugard, Christine C; Montagna, Marco M; Tognazzo, Silvia S; Teixeira, Manuel R MR; Healey, Sue S; , ; Olswold, Curtis C; Guidugli, Lucia L; Lindor, Noralane N; Slager, Susan S; Szabo, Csilla I CI; Vijai, Joseph J; Robson, Mark M; Kauff, Noah N; Zhang, Liying L; Rau-Murthy, Rohini R; Fink-Retter, Anneliese A; Singer, Christian F CF; Rappaport, Christine C; Geschwantler Kaulich, Daphne D; Pfeiler, Georg G; Tea, Muy-Kheng MK; Berger, Andreas A; Phelan, Catherine M CM; Greene, Mark H MH; Mai, Phuong L PL; Lejbkowicz, Flavio F; Andrulis, Irene I; Mulligan, Anna Marie AM; Glendon, Gord G; Toland, Amanda Ewart AE; Bojesen, Anders A; Pedersen, Inge Sokilde IS; Sunde, Lone L; Thomassen, Mads M; Kruse, Torben A TA; Jensen, Uffe Birk UB; Friedman, Eitan E; Laitman, Yael Y; Shimon, Shani Paluch SP; Simard, Jacques J; Easton, Douglas F DF; Offit, Kenneth K; Couch, Fergus J FJ; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Benitez, Javier J
Publication Date: 2014-04

Variant appearance in text: rs2304277
PubMed Link: 24698998
Variant Present in the following documents:
  • Main text
View BVdb publication page



Serum levels of selenium and smoking habits at age 50 influence long term prostate cancer risk; a 34 year ULSAM follow-up.

Bmc Cancer
Grundmark, Birgitta B; Zethelius, Björn B; Garmo, Hans H; Holmberg, Lars L
Publication Date: 2011-10-07

Variant appearance in text: rs2304277
PubMed Link: 21982398
Variant Present in the following documents:
  • Main text
  • 1471-2407-11-431.pdf
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The Ser(326)Cys polymorphism of 8-oxoguanine glycosylase 1 (OGG1) is associated with type 2 diabetes in Mexican Americans.

Human Heredity
Thameem, Farook F; Puppala, Sobha S; Lehman, Donna M DM; Stern, Michael P MP; Blangero, John J; Abboud, Hanna E HE; Duggirala, Ravindranath R; Habib, Samy L SL
Publication Date: 2010

Variant appearance in text: rs2304277
PubMed Link: 20606456
Variant Present in the following documents:
  • Main text
View BVdb publication page