ATM c.1803-355C>T

Variant ID: 11-108123189-C-T

NM_000051.3(ATM):c.1803-355C>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers.

Archives Of Medical Science : Ams
Podralska, Marta M; Dzikiewicz-Krawczyk, Agnieszka A; Mosor, Maria M; Żurawek, Magdalena M; Iżykowska, Katarzyna K; Słomski, Ryszard R; Rydzanicz, Małgorzata M; Gabryel, Piotr P; Dyszkiewicz, Wojciech W; Ziółkowska-Suchanek, Iwona I
Publication Date: 2021

Variant appearance in text: rs228592
PubMed Link: 34522244
Variant Present in the following documents:
  • Main text
  • AMS-17-5-97840.pdf
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The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research.

Therapeutic Advances In Respiratory Disease
Xu, Yanling Y; Gao, Peng P; Lv, Xuejiao X; Zhang, Lin L; Zhang, Jie J
Publication Date: 2017-09

Variant appearance in text: rs228592
PubMed Link: 28825373
Variant Present in the following documents:
  • Main text
  • 10.1177_1753465817725716.pdf
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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Breast Cancer Research And Treatment
Hamdi, Yosr Y; Soucy, Penny P; Kuchenbaeker, Karoline B KB; Pastinen, Tomi T; Droit, Arnaud A; Lemaçon, Audrey A; Adlard, Julian J; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arason, Adalgeir A; Arnold, Norbert N; Arun, Banu K BK; Azzollini, Jacopo J; Bane, Anita A; Barjhoux, Laure L; Barrowdale, Daniel D; Benitez, Javier J; Berthet, Pascaline P; Blok, Marinus J MJ; Bobolis, Kristie K; Bonadona, Valérie V; Bonanni, Bernardo B; Bradbury, Angela R AR; Brewer, Carole C; Buecher, Bruno B; Buys, Saundra S SS; Caligo, Maria A MA; Chiquette, Jocelyne J; Chung, Wendy K WK; Claes, Kathleen B M KB; Daly, Mary B MB; Damiola, Francesca F; Davidson, Rosemarie R; De la Hoya, Miguel M; De Leeneer, Kim K; Diez, Orland O; Ding, Yuan Chun YC; Dolcetti, Riccardo R; Domchek, Susan M SM; Dorfling, Cecilia M CM; Eccles, Diana D; Eeles, Ros R; Einbeigi, Zakaria Z; Ejlertsen, Bent B; , ; Engel, Christoph C; Gareth Evans, D D; Feliubadalo, Lidia L; Foretova, Lenka L; Fostira, Florentia F; Foulkes, William D WD; Fountzilas, George G; Friedman, Eitan E; Frost, Debra D; Ganschow, Pamela P; Ganz, Patricia A PA; Garber, Judy J; Gayther, Simon A SA; , ; Gerdes, Anne-Marie AM; Glendon, Gord G; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Gronwald, Jacek J; Hahnen, Eric E; Hamann, Ute U; Hansen, Thomas V O TV; Hart, Steven S; Hays, John L JL; , ; Hogervorst, Frans B L FB; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Jensen, Uffe Birk UB; John, Esther M EM; Joseph, Vijai V; Just, Walter W; Kaczmarek, Katarzyna K; Karlan, Beth Y BY; , ; Kets, Carolien M CM; Kirk, Judy J; Kriege, Mieke M; Laitman, Yael Y; Laurent, Maïté M; Lazaro, Conxi C; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Liljegren, Annelie A; Loman, Niklas N; Loud, Jennifer T JT; Manoukian, Siranoush S; Mariani, Milena M; Mazoyer, Sylvie S; McGuffog, Lesley L; Meijers-Heijboer, Hanne E J HE; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Mulligan, Anna Marie AM; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Nussbaum, Robert L RL; Olah, Edith E; Olopade, Olufunmilayo I OI; Ong, Kai-Ren KR; Oosterwijk, Jan C JC; Osorio, Ana A; Papi, Laura L; Park, Sue Kyung SK; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Segura, Pedro Perez PP; Peterlongo, Paolo P; Phelan, Catherine M CM; Radice, Paolo P; Rantala, Johanna J; Rappaport-Fuerhauser, Christine C; Rennert, Gad G; Richardson, Andrea A; Robson, Mark M; Rodriguez, Gustavo C GC; Rookus, Matti A MA; Schmutzler, Rita Katharina RK; Sevenet, Nicolas N; Shah, Payal D PD; Singer, Christian F CF; Slavin, Thomas P TP; Snape, Katie K; Sokolowska, Johanna J; Sønderstrup, Ida Marie Heeholm IM; Southey, Melissa M; Spurdle, Amanda B AB; Stadler, Zsofia Z; Stoppa-Lyonnet, Dominique D; Sukiennicki, Grzegorz G; Sutter, Christian C; Tan, Yen Y; Tea, Muy-Kheng MK; Teixeira, Manuel R MR; Teulé, Alex A; Teo, Soo-Hwang SH; Terry, Mary Beth MB; Thomassen, Mads M; Tihomirova, Laima L; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda Ewart AE; Tung, Nadine N; van den Ouweland, Ans M W AM; van der Luijt, Rob B RB; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Varon-Mateeva, Raymonda R; Wappenschmidt, Barbara B; Wijnen, Juul T JT; Rebbeck, Timothy T; Chenevix-Trench, Georgia G; Offit, Kenneth K; Couch, Fergus J FJ; Nord, Silje S; Easton, Douglas F DF; Antoniou, Antonis C AC; Simard, Jacques J
Publication Date: 2017-01

Variant appearance in text: rs228592
PubMed Link: 27796716
Variant Present in the following documents:
  • Main text
  • 10549_2016_Article_4018.pdf
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Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma.

Plos One
Rendleman, Justin J; Antipin, Yevgeniy Y; Reva, Boris B; Adaniel, Christina C; Przybylo, Jennifer A JA; Dutra-Clarke, Ana A; Hansen, Nichole N; Heguy, Adriana A; Huberman, Kety K; Borsu, Laetitia L; Paltiel, Ora O; Ben-Yehuda, Dina D; Brown, Jennifer R JR; Freedman, Arnold S AS; Sander, Chris C; Zelenetz, Andrew A; Klein, Robert J RJ; Shao, Yongzhao Y; Lacher, Mortimer M; Vijai, Joseph J; Offit, Kenneth K; Kirchhoff, Tomas T
Publication Date: 2014

Variant appearance in text: rs228592
PubMed Link: 25010664
Variant Present in the following documents:
  • Main text
  • pone.0101685.pdf
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Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

Nature Genetics
, ; , ; Zhou, Kaixin K; Bellenguez, Celine C; Spencer, Chris C A CC; Bennett, Amanda J AJ; Coleman, Ruth L RL; Tavendale, Roger R; Hawley, Simon A SA; Donnelly, Louise A LA; Schofield, Chris C; Groves, Christopher J CJ; Burch, Lindsay L; Carr, Fiona F; Strange, Amy A; Freeman, Colin C; Blackwell, Jenefer M JM; Bramon, Elvira E; Brown, Matthew A MA; Casas, Juan P JP; Corvin, Aiden A; Craddock, Nicholas N; Deloukas, Panos P; Dronov, Serge S; Duncanson, Audrey A; Edkins, Sarah S; Gray, Emma E; Hunt, Sarah S; Jankowski, Janusz J; Langford, Cordelia C; Markus, Hugh S HS; Mathew, Christopher G CG; Plomin, Robert R; Rautanen, Anna A; Sawcer, Stephen J SJ; Samani, Nilesh J NJ; Trembath, Richard R; Viswanathan, Ananth C AC; Wood, Nicholas W NW; , ; Harries, Lorna W LW; Hattersley, Andrew T AT; Doney, Alex S F AS; Colhoun, Helen H; Morris, Andrew D AD; Sutherland, Calum C; Hardie, D Grahame DG; Peltonen, Leena L; McCarthy, Mark I MI; Holman, Rury R RR; Palmer, Colin N A CN; Donnelly, Peter P; Pearson, Ewan R ER
Publication Date: 2011-02

Variant appearance in text: rs228592
PubMed Link: 21186350
Variant Present in the following documents:
  • NIHMS33681-supplement-1.pdf
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Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA
Publication Date: 2009-03-15

Variant appearance in text: rs228592
PubMed Link: 19276285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.

Breast Cancer Research : Bcr
Einarsdóttir, Kristjana K; Rosenberg, Lena U LU; Humphreys, Keith K; Bonnard, Carine C; Palmgren, Juni J; Li, Yuqing Y; Li, Yi Y; Chia, Kee S KS; Liu, Edison T ET; Hall, Per P; Liu, Jianjun J; Wedrén, Sara S
Publication Date: 2006

Variant appearance in text: rs228592
PubMed Link: 17132159
Variant Present in the following documents:
View BVdb publication page



Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.

American Journal Of Human Genetics
Suarez, Brian K BK; Duan, Jubao J; Sanders, Alan R AR; Hinrichs, Anthony L AL; Jin, Carol H CH; Hou, Cuiping C; Buccola, Nancy G NG; Hale, Nancy N; Weilbaecher, Ann N AN; Nertney, Deborah A DA; Olincy, Ann A; Green, Susan S; Schaffer, Arthur W AW; Smith, Christopher J CJ; Hannah, Dominique E DE; Rice, John P JP; Cox, Nancy J NJ; Martinez, Maria M; Mowry, Bryan J BJ; Amin, Farooq F; Silverman, Jeremy M JM; Black, Donald W DW; Byerley, William F WF; Crowe, Raymond R RR; Freedman, Robert R; Cloninger, C Robert CR; Levinson, Douglas F DF; Gejman, Pablo V PV
Publication Date: 2006-02

Variant appearance in text: rs228592
PubMed Link: 16400611
Variant Present in the following documents:
  • Main text
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Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.

Bmc Cancer
Allen-Brady, Kristina K; Camp, Nicola J NJ
Publication Date: 2005-08-09

Variant appearance in text: rs228592
PubMed Link: 16091150
Variant Present in the following documents:
  • Main text
  • 1471-2407-5-99.pdf
View BVdb publication page