ATM c.-30-989A>G

Variant ID: 11-108097333-A-G

NM_000051.3(ATM):c.-30-989A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: rs228591
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
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Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population.

Plos One
Boujemaa, Maroua M; Mighri, Najah N; Chouchane, Lotfi L; Boubaker, Mohamed Samir MS; Abdelhak, Sonia S; Boussen, Hamouda H; Hamdi, Yosr Y
Publication Date: 2022

Variant appearance in text: rs228591
PubMed Link: 35333900
Variant Present in the following documents:
  • Main text
  • pone.0265638.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: rs228591
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: rs228591
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: rs228591
PubMed Link: 19276285
Variant Present in the following documents:
  • Main text
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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: rs228591
PubMed Link: 17132159
Variant Present in the following documents:
View BVdb publication page



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: rs228591
PubMed Link: 16091150
Variant Present in the following documents:
  • Main text
  • 1471-2407-5-99.pdf
View BVdb publication page