ATM c.146C>T ;(p.S49F)

Variant ID: 11-108098576-C-T

NM_000051.3(ATM):c.146C>T;(p.S49F)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: rs1800054
PubMed Link: 35347810
Variant Present in the following documents:
  • CBIN-46-1047-s001.xlsx, sheet 1
View BVdb publication page



Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology
Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H
Publication Date: 2021

Variant appearance in text: ATM: Ser49Phe
PubMed Link: 35095854
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



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: 146C>T; S49F; rs1800054
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Cost-effective and robust genotyping using double-mismatch allele-specific quantitative PCR.

Scientific Reports
Lefever, Steve S; Rihani, Ali A; Van der Meulen, Joni J; Pattyn, Filip F; Van Maerken, Tom T; Van Dorpe, Jo J; Hellemans, Jan J; Vandesompele, Jo J
Publication Date: 2019-02-15

Variant appearance in text: rs1800054
PubMed Link: 30770838
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_38581.pdf
  • 41598_2019_38581_MOESM1_ESM.pdf
View BVdb publication page



Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Nature Communications
Wong, Kim K; van der Weyden, Louise L; Schott, Courtney R CR; Foote, Alastair A; Constantino-Casas, Fernando F; Smith, Sionagh S; Dobson, Jane M JM; Murchison, Elizabeth P EP; Wu, Hong H; Yeh, Iwei I; Fullen, Douglas R DR; Joseph, Nancy N; Bastian, Boris C BC; Patel, Rajiv M RM; Martincorena, Inigo I; Robles-Espinoza, Carla Daniela CD; Iyer, Vivek V; Kuijjer, Marieke L ML; Arends, Mark J MJ; Brenn, Thomas T; Harms, Paul W PW; Wood, Geoffrey A GA; Adams, David J DJ
Publication Date: 2019-01-21

Variant appearance in text: rs1800054
PubMed Link: 30664638
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_8081.pdf
View BVdb publication page



Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.

Npj Genomic Medicine
Lawrence, Ben B; Blenkiron, Cherie C; Parker, Kate K; Tsai, Peter P; Fitzgerald, Sandra S; Shields, Paula P; Robb, Tamsin T; Yeong, Mee Ling ML; Kramer, Nicole N; James, Sarah S; Black, Mik M; Fan, Vicky V; Poonawala, Nooriyah N; Yap, Patrick P; Coats, Esther E; Woodhouse, Braden B; Ramsaroop, Reena R; Yozu, Masato M; Robinson, Bridget B; Henare, Kimiora K; Koea, Jonathan J; Johnston, Peter P; Carroll, Richard R; Connor, Saxon S; Morrin, Helen H; Elston, Marianne M; Jackson, Christopher C; Reid, Papaarangi P; Windsor, John J; MacCormick, Andrew A; Babor, Richard R; Bartlett, Adam A; Damianovich, Dragan D; Knowlton, Nicholas N; Grimmond, Sean S; Findlay, Michael M; Print, Cristin C
Publication Date: 2018

Variant appearance in text: ATM: Ser49Phe
PubMed Link: 30062048
Variant Present in the following documents:
  • Main text
  • 41525_2018_Article_58.pdf
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: rs1800054
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp007.pdf
View BVdb publication page



Impact of DNA repair gene polymorphisms on the risk of biochemical recurrence after radiotherapy and overall survival in prostate cancer.

Oncotarget
Zanusso, Chiara C; Bortolus, Roberto R; Dreussi, Eva E; Polesel, Jerry J; Montico, Marcella M; Cecchin, Erika E; Gagno, Sara S; Rizzolio, Flavio F; Arcicasa, Mauro M; Novara, Giacomo G; Toffoli, Giuseppe G
Publication Date: 2017-04-04

Variant appearance in text: rs1800054
PubMed Link: 28206966
Variant Present in the following documents:
  • Main text
  • oncotarget-08-22863.pdf
  • oncotarget-08-22863-s001.pdf
View BVdb publication page



Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22

Variant appearance in text: ATM: 146C>T; S49F; rs1800054
PubMed Link: 28007035
Variant Present in the following documents:
  • 12881_2016_359_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: rs1800054
PubMed Link: 27764772
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate germline polymorphisms of genes belonging to the pathways of four drugs used in osteosarcoma standard chemotherapy associated with risk, survival and toxicity in non-metastatic high-grade osteosarcoma.

Oncotarget
Hattinger, Claudia M CM; Biason, Paola P; Iacoboni, Erika E; Gagno, Sara S; Fanelli, Marilù M; Tavanti, Elisa E; Vella, Serena S; Ferrari, Stefano S; Roli, Andrea A; Roncato, Rossana R; Giodini, Luciana L; Scotlandi, Katia K; Picci, Piero P; Toffoli, Giuseppe G; Serra, Massimo M
Publication Date: 2016-09-20

Variant appearance in text: rs1800054
PubMed Link: 27566557
Variant Present in the following documents:
  • Main text
  • oncotarget-07-61970.pdf
View BVdb publication page



Effects of lifestyle and single nucleotide polymorphisms on breast cancer risk: a case-control study in Japanese women.

Bmc Cancer
Mizoo, Taeko T; Taira, Naruto N; Nishiyama, Keiko K; Nogami, Tomohiro T; Iwamoto, Takayuki T; Motoki, Takayuki T; Shien, Tadahiko T; Matsuoka, Junji J; Doihara, Hiroyoshi H; Ishihara, Setsuko S; Kawai, Hiroshi H; Kawasaki, Kensuke K; Ishibe, Youichi Y; Ogasawara, Yutaka Y; Komoike, Yoshifumi Y; Miyoshi, Shinichiro S
Publication Date: 2013-12-01

Variant appearance in text: rs1800054
PubMed Link: 24289300
Variant Present in the following documents:
  • Main text
  • 1471-2407-13-565.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: rs1800054
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: rs1800054
PubMed Link: 24177593
Variant Present in the following documents:
  • Main text
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: rs1800054
PubMed Link: 23719583
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary breast cancer in the Han Chinese population.

Journal Of Epidemiology
Cao, Wenming W; Wang, Xiaojia X; Li, Ji-Cheng JC
Publication Date: 2013

Variant appearance in text: rs1800054
PubMed Link: 23318652
Variant Present in the following documents:
  • Main text
  • je-23-075.pdf
View BVdb publication page



Interactive effect of genetic susceptibility with height, body mass index, and hormone replacement therapy on the risk of breast cancer.

Bmc Women'S Health
Harlid, Sophia S; Butt, Salma S; Ivarsson, Malin I L MI; Eyfjörd, Jorunn Erla JE; Lenner, Per P; Manjer, Jonas J; Dillner, Joakim J; Carlson, Joyce J
Publication Date: 2012-06-22

Variant appearance in text: rs1800054
PubMed Link: 22726230
Variant Present in the following documents:
  • Main text
  • 1472-6874-12-17.pdf
View BVdb publication page



Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.

Lancet (London, England)
Travis, Ruth C RC; Reeves, Gillian K GK; Green, Jane J; Bull, Diana D; Tipper, Sarah J SJ; Baker, Krys K; Beral, Valerie V; Peto, Richard R; Bell, John J; Zelenika, Diana D; Lathrop, Mark M; ,
Publication Date: 2010-06-19

Variant appearance in text: rs1800054
PubMed Link: 20605201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics
Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,
Publication Date: 2007-03-16

Variant appearance in text: rs1800054
PubMed Link: 17367212
Variant Present in the following documents:
View BVdb publication page