ATM c.3161C>A ;(p.P1054H)

Variant ID: 11-108143456-C-A

NM_000051.3(ATM):c.3161C>A;(p.P1054H)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


A nomogram based on genotypic and clinicopathologic factors to predict the non-sentinel lymph node metastasis in Chinese women breast cancer patients.

Frontiers In Oncology
Zhu, Liling L; Liu, Ke K; Bao, Baoshi B; Li, Fengyun F; Liang, Wentao W; Jiang, Zhaoyun Z; Hao, Xiaopeng X; Wang, Jiandong J
Publication Date: 2023

Variant appearance in text: rs1800057
PubMed Link: 37152050
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Cell Biology International
Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; Gafà, Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G
Publication Date: 2022-07

Variant appearance in text: rs1800057
PubMed Link: 35347810
Variant Present in the following documents:
  • CBIN-46-1047-s001.xlsx, sheet 1
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Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene.

Journal Of The Endocrine Society
Miasaki, Fabíola Y FY; Saito, Kelly C KC; Yamamoto, Guilherme L GL; Boguszewski, César L CL; de Carvalho, Gisah A GA; Kimura, Edna T ET; Kopp, Peter A PA
Publication Date: 2022-04-01

Variant appearance in text: rs1800057
PubMed Link: 35284771
Variant Present in the following documents:
  • Main text
  • bvac026.pdf
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The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome.

Cells
Masselli, Elena E; Pozzi, Giulia G; Carubbi, Cecilia C; Vitale, Marco M
Publication Date: 2021-09-29

Variant appearance in text: rs1800057
PubMed Link: 34685575
Variant Present in the following documents:
  • Main text
  • cells-10-02597.pdf
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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 3161C>A; Pro1054His
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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8q24 clear cell renal cell carcinoma germline variant is associated with VHL mutation status and clinical aggressiveness.

Bmc Urology
Eckel-Passow, Jeanette E JE; Yan, Huihuang H; Kosel, Matthew L ML; Serie, Daniel D; Decker, Paul A PA; Jenkins, Robert B RB; Costello, Brian B; Leibovich, Bradley B; Ho, Thai H TH; Parker, Alexander A
Publication Date: 2020-10-29

Variant appearance in text: rs1800057
PubMed Link: 33121461
Variant Present in the following documents:
  • Main text
  • 12894_2020_Article_745.pdf
View BVdb publication page



Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences
Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR
Publication Date: 2020-07-16

Variant appearance in text: rs1800057
PubMed Link: 32708810
Variant Present in the following documents:
  • ijms-21-05036-s001.pdf
View BVdb publication page



Monogenic and polygenic inheritance become instruments for clonal selection.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; McCarroll, Steven A SA
Publication Date: 2020-08

Variant appearance in text: rs1800057
PubMed Link: 32581363
Variant Present in the following documents:
  • NIHMS1587518-supplement-1587518_Supp_Tab1-23.pdf
View BVdb publication page



Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

Nature Communications
Gallagher, C S CS; Mäkinen, N N; Harris, H R HR; Rahmioglu, N N; Uimari, O O; Cook, J P JP; Shigesi, N N; Ferreira, T T; Velez-Edwards, D R DR; Edwards, T L TL; Mortlock, S S; Ruhioglu, Z Z; Day, F F; Becker, C M CM; Karhunen, V V; Martikainen, H H; Järvelin, M-R MR; Cantor, R M RM; Ridker, P M PM; Terry, K L KL; Buring, J E JE; Gordon, S D SD; Medland, S E SE; Montgomery, G W GW; Nyholt, D R DR; Hinds, D A DA; Tung, J Y JY; , ; Perry, J R B JRB; Lind, P A PA; Painter, J N JN; Martin, N G NG; Morris, A P AP; Chasman, D I DI; Missmer, S A SA; Zondervan, K T KT; Morton, C C CC
Publication Date: 2019-10-24

Variant appearance in text: rs1800057
PubMed Link: 31649266
Variant Present in the following documents:
  • Main text
  • 41467_2019_12536_MOESM10_ESM.pdf
  • 41467_2019_Article_12536.pdf
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Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry.

Ebiomedicine
Yang, Yaohua Y; Shu, Xiang X; Shu, Xiao-Ou XO; Bolla, Manjeet K MK; Kweon, Sun-Seog SS; Cai, Qiuyin Q; Michailidou, Kyriaki K; Wang, Qin Q; Dennis, Joe J; Park, Boyoung B; Matsuo, Keitaro K; Kwong, Ava A; Park, Sue Kyung SK; Wu, Anna H AH; Teo, Soo Hwang SH; Iwasaki, Motoki M; Choi, Ji-Yeob JY; Li, Jingmei J; Hartman, Mikael M; Shen, Chen-Yang CY; Muir, Kenneth K; Lophatananon, Artitaya A; Li, Bingshan B; Wen, Wanqing W; Gao, Yu-Tang YT; Xiang, Yong-Bing YB; Aronson, Kristan J KJ; Spinell, John J JJ; Gago-Dominguez, Manuela M; John, Esther M EM; Kurian, Allison W AW; Chang-Claude, Jenny J; Chen, Shou-Tung ST; Dörk, Thilo T; Evans, D Gareth R DGR; Schmidt, Marjanka K MK; Shin, Min-Ho MH; Giles, Graham G GG; Milne, Roger L RL; Simard, Jacques J; Kubo, Michiaki M; Kraft, Peter P; Kang, Daehee D; Easton, Douglas F DF; Zheng, Wei W; Long, Jirong J
Publication Date: 2019-10

Variant appearance in text: rs1800057
PubMed Link: 31629678
Variant Present in the following documents:
  • Main text
  • main.pdf
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Analysis of Over 140,000 European Descendants Identifies Genetically Predicted Blood Protein Biomarkers Associated with Prostate Cancer Risk.

Cancer Research
Wu, Lang L; Shu, Xiang X; Bao, Jiandong J; Guo, Xingyi X; Kote-Jarai, Zsofia Z; Haiman, Christopher A CA; Eeles, Rosalind A RA; Zheng, Wei W; ,
Publication Date: 2019-09-15

Variant appearance in text: rs1800057
PubMed Link: 31337649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

Nature Communications
Rafnar, Thorunn T; Gunnarsson, Bjarni B; Stefansson, Olafur A OA; Sulem, Patrick P; Ingason, Andres A; Frigge, Michael L ML; Stefansdottir, Lilja L; Sigurdsson, Jon K JK; Tragante, Vinicius V; Steinthorsdottir, Valgerdur V; Styrkarsdottir, Unnur U; Stacey, Simon N SN; Gudmundsson, Julius J; Arnadottir, Gudny A GA; Oddsson, Asmundur A; Zink, Florian F; Halldorsson, Gisli G; Sveinbjornsson, Gardar G; Kristjansson, Ragnar P RP; Davidsson, Olafur B OB; Salvarsdottir, Anna A; Thoroddsen, Asgeir A; Helgadottir, Elisabet A EA; Kristjansdottir, Katrin K; Ingthorsson, Orri O; Gudmundsson, Valur V; Geirsson, Reynir T RT; Arnadottir, Ragnheidur R; Gudbjartsson, Daniel F DF; Masson, Gisli G; Asselbergs, Folkert W FW; Jonasson, Jon G JG; Olafsson, Karl K; Thorsteinsdottir, Unnur U; Halldorsson, Bjarni V BV; Thorleifsson, Gudmar G; Stefansson, Kari K
Publication Date: 2018-09-07

Variant appearance in text: rs1800057
PubMed Link: 30194396
Variant Present in the following documents:
  • 41467_2018_5428_MOESM2_ESM.pdf
View BVdb publication page



Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

Nature Communications
Scelo, Ghislaine G; Purdue, Mark P MP; Brown, Kevin M KM; Johansson, Mattias M; Wang, Zhaoming Z; Eckel-Passow, Jeanette E JE; Ye, Yuanqing Y; Hofmann, Jonathan N JN; Choi, Jiyeon J; Foll, Matthieu M; Gaborieau, Valerie V; Machiela, Mitchell J MJ; Colli, Leandro M LM; Li, Peng P; Sampson, Joshua N JN; Abedi-Ardekani, Behnoush B; Besse, Celine C; Blanche, Helene H; Boland, Anne A; Burdette, Laurie L; Chabrier, Amelie A; Durand, Geoffroy G; Le Calvez-Kelm, Florence F; Prokhortchouk, Egor E; Robinot, Nivonirina N; Skryabin, Konstantin G KG; Wozniak, Magdalena B MB; Yeager, Meredith M; Basta-Jovanovic, Gordana G; Dzamic, Zoran Z; Foretova, Lenka L; Holcatova, Ivana I; Janout, Vladimir V; Mates, Dana D; Mukeriya, Anush A; Rascu, Stefan S; Zaridze, David D; Bencko, Vladimir V; Cybulski, Cezary C; Fabianova, Eleonora E; Jinga, Viorel V; Lissowska, Jolanta J; Lubinski, Jan J; Navratilova, Marie M; Rudnai, Peter P; Szeszenia-Dabrowska, Neonila N; Benhamou, Simone S; Cancel-Tassin, Geraldine G; Cussenot, Olivier O; Baglietto, Laura L; Boeing, Heiner H; Khaw, Kay-Tee KT; Weiderpass, Elisabete E; Ljungberg, Borje B; Sitaram, Raviprakash T RT; Bruinsma, Fiona F; Jordan, Susan J SJ; Severi, Gianluca G; Winship, Ingrid I; Hveem, Kristian K; Vatten, Lars J LJ; Fletcher, Tony T; Koppova, Kvetoslava K; Larsson, Susanna C SC; Wolk, Alicja A; Banks, Rosamonde E RE; Selby, Peter J PJ; Easton, Douglas F DF; Pharoah, Paul P; Andreotti, Gabriella G; Freeman, Laura E Beane LEB; Koutros, Stella S; Albanes, Demetrius D; Männistö, Satu S; Weinstein, Stephanie S; Clark, Peter E PE; Edwards, Todd L TL; Lipworth, Loren L; Gapstur, Susan M SM; Stevens, Victoria L VL; Carol, Hallie H; Freedman, Matthew L ML; Pomerantz, Mark M MM; Cho, Eunyoung E; Kraft, Peter P; Preston, Mark A MA; Wilson, Kathryn M KM; Michael Gaziano, J J; Sesso, Howard D HD; Black, Amanda A; Freedman, Neal D ND; Huang, Wen-Yi WY; Anema, John G JG; Kahnoski, Richard J RJ; Lane, Brian R BR; Noyes, Sabrina L SL; Petillo, David D; Teh, Bin Tean BT; Peters, Ulrike U; White, Emily E; Anderson, Garnet L GL; Johnson, Lisa L; Luo, Juhua J; Buring, Julie J; Lee, I-Min IM; Chow, Wong-Ho WH; Moore, Lee E LE; Wood, Christopher C; Eisen, Timothy T; Henrion, Marc M; Larkin, James J; Barman, Poulami P; Leibovich, Bradley C BC; Choueiri, Toni K TK; Mark Lathrop, G G; Rothman, Nathaniel N; Deleuze, Jean-Francois JF; McKay, James D JD; Parker, Alexander S AS; Wu, Xifeng X; Houlston, Richard S RS; Brennan, Paul P; Chanock, Stephen J SJ
Publication Date: 2017-06-09

Variant appearance in text: rs1800057
PubMed Link: 28598434
Variant Present in the following documents:
  • Main text
  • ncomms15724-s1.pdf
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Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants.

Oncotarget
Zhao, Yuguang Y; Yang, Lei L; Wu, Di D; He, Hua H; Wang, Mengmeng M; Ge, Tingwen T; Liu, Yudi Y; Tian, Huimin H; Cui, Jiuwei J; Jia, Lin L; Wan, Ziqiang Z; Han, Fujun F
Publication Date: 2016-11-22

Variant appearance in text: rs1800057
PubMed Link: 27764772
Variant Present in the following documents:
  • Main text
  • oncotarget-07-76867.pdf
View BVdb publication page



Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.

Breast Cancer Research : Bcr
Lips, Esther H EH; Michaut, Magali M; Hoogstraat, Marlous M; Mulder, Lennart L; Besselink, Nicolle J M NJ; Koudijs, Marco J MJ; Cuppen, Edwin E; Voest, Emile E EE; Bernards, Rene R; Nederlof, Petra M PM; Wesseling, Jelle J; Rodenhuis, Sjoerd S; Wessels, Lodewyk F A LF; ,
Publication Date: 2015-10-03

Variant appearance in text: rs1800057
PubMed Link: 26433948
Variant Present in the following documents:
  • 13058_2015_642_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Use a survival model to correlate single-nucleotide polymorphisms of DNA repair genes with radiation dose-response in patients with non-small cell lung cancer.

Radiotherapy And Oncology : Journal Of The European Society For Therapeutic Radiology And Oncology
Jin, Jian-Yue JY; Wang, Weili W; Ten Haken, Randall K RK; Chen, Jie J; Bi, Nan N; Sadek, Ramses R; Zhang, Hong H; Lawrence, Theodore S TS; Kong, Feng-Ming Spring FM
Publication Date: 2015-10

Variant appearance in text: rs1800057
PubMed Link: 26253951
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphisms in DNA repair genes as risk factors associated to prostate cancer progression.

Bmc Medical Genetics
Henríquez-Hernández, Luis Alberto LA; Valenciano, Almudena A; Foro-Arnalot, Palmira P; Álvarez-Cubero, María Jesús MJ; Cozar, José Manuel JM; Suárez-Novo, José Francisco JF; Castells-Esteve, Manel M; Fernández-Gonzalo, Pablo P; De-Paula-Carranza, Belén B; Ferrer, Montse M; Guedea, Ferrán F; Sancho-Pardo, Gemma G; Craven-Bartle, Jordi J; Ortiz-Gordillo, María José MJ; Cabrera-Roldán, Patricia P; Herrera-Ramos, Estefanía E; Rodríguez-Gallego, Carlos C; Rodríguez-Melcón, Juan Ignacio JI; Lara, Pedro C PC
Publication Date: 2014-12-24

Variant appearance in text: rs1800057
PubMed Link: 25540025
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_143.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs1800057
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



A Bayesian Hierarchical Model for Relating Multiple SNPs within Multiple Genes to Disease Risk.

International Journal Of Genomics
Duan, Lewei L; Thomas, Duncan C DC
Publication Date: 2013

Variant appearance in text: rs1800057
PubMed Link: 24490143
Variant Present in the following documents:
  • Main text
  • IJG2013-406217.pdf
View BVdb publication page



Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach.

American Journal Of Epidemiology
O'Brien, Katie M KM; Cole, Stephen R SR; Poole, Charles C; Bensen, Jeannette T JT; Herring, Amy H AH; Engel, Lawrence S LS; Millikan, Robert C RC
Publication Date: 2014-02-01

Variant appearance in text: rs1800057
PubMed Link: 24218030
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breast cancer subtypes and previously established genetic risk factors: a bayesian approach.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
O'Brien, Katie M KM; Cole, Stephen R SR; Engel, Lawrence S LS; Bensen, Jeannette T JT; Poole, Charles C; Herring, Amy H AH; Millikan, Robert C RC
Publication Date: 2014-01

Variant appearance in text: rs1800057
PubMed Link: 24177593
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in DNA-repair genes in a cohort of prostate cancer patients from different areas in Spain: heterogeneity between populations as a confounding factor in association studies.

Plos One
Henríquez-Hernández, Luis Alberto LA; Valenciano, Almudena A; Foro-Arnalot, Palmira P; Alvarez-Cubero, María Jesús MJ; Cozar, José Manuel JM; Suárez-Novo, José Francisco JF; Castells-Esteve, Manel M; Ayala-Gil, Adriana A; Fernández-Gonzalo, Pablo P; Ferrer, Montse M; Guedea, Ferrán F; Sancho-Pardo, Gemma G; Craven-Bartle, Jordi J; Ortiz-Gordillo, María José MJ; Cabrera-Roldán, Patricia P; Herrera-Ramos, Estefanía E; Lara, Pedro C PC
Publication Date: 2013

Variant appearance in text: rs1800057
PubMed Link: 23936089
Variant Present in the following documents:
  • Main text
  • pone.0069735.pdf
View BVdb publication page



Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.

Radiotherapy And Oncology : Journal Of The European Society For Therapeutic Radiology And Oncology
Kerns, Sarah L SL; Stock, Richard G RG; Stone, Nelson N NN; Blacksburg, Seth R SR; Rath, Lynda L; Vega, Ana A; Fachal, Laura L; Gómez-Caamaño, Antonio A; De Ruysscher, Dirk D; Lammering, Guido G; Parliament, Matthew M; Blackshaw, Michael M; Sia, Michael M; Cesaretti, Jamie J; Terk, Mitchell M; Hixson, Rosetta R; Rosenstein, Barry S BS; Ostrer, Harry H
Publication Date: 2013-06

Variant appearance in text: rs1800057
PubMed Link: 23719583
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATM polymorphisms predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy.

International Journal Of Radiation Oncology, Biology, Physics
Xiong, Huihua H; Liao, Zhongxing Z; Liu, Zhensheng Z; Xu, Ting T; Wang, Qiming Q; Liu, Hongliang H; Komaki, Ritsuko R; Gomez, Daniel D; Wang, Li-E LE; Wei, Qingyi Q
Publication Date: 2013-03-15

Variant appearance in text: rs1800057
PubMed Link: 23154078
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study.

Human Mutation
Brooks, Jennifer D JD; Teraoka, Sharon N SN; Reiner, Anne S AS; Satagopan, Jaya M JM; Bernstein, Leslie L; Thomas, Duncan C DC; Capanu, Marinela M; Stovall, Marilyn M; Smith, Susan A SA; Wei, Shan S; Shore, Roy E RE; Boice, John D JD; Lynch, Charles F CF; Mellemkjaer, Lene L; Malone, Kathleen E KE; Liang, Xiaolin X; , ; Haile, Robert W RW; Concannon, Patrick P; Bernstein, Jonine L JL
Publication Date: 2012-01

Variant appearance in text: rs1800057
PubMed Link: 21898661
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA repair gene polymorphisms and tobacco smoking in the risk for colorectal adenomas.

Carcinogenesis
Gao, Ying Y; Hayes, Richard B RB; Huang, Wen-Yi WY; Caporaso, Neil E NE; Burdette, Laurie L; Yeager, Meredith M; Chanock, Stephen J SJ; Berndt, Sonja I SI
Publication Date: 2011-06

Variant appearance in text: rs1800057
PubMed Link: 21504893
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.

Radiation Oncology (London, England)
Edvardsen, Hege H; Tefre, Toril T; Jansen, Laila L; Vu, Phuong P; Haffty, Bruce G BG; Fosså, Sophie D SD; Kristensen, Vessela N VN; Børresen-Dale, Anne-Lise AL
Publication Date: 2007-07-10

Variant appearance in text: rs1800057
PubMed Link: 17623063
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: rs1800057
PubMed Link: 17132159
Variant Present in the following documents:
  • Main text
  • bcr1623.pdf
View BVdb publication page