ATM c.4578C>T ;(p.P1526=)

Variant ID: 11-108163487-C-T

NM_000051.3(ATM):c.4578C>T;(p.P1526=)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: ATM: 4578C>T; Pro1526=; rs1800889
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: ATM: P1526P; rs1800889
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Cancer Effects of Low to Moderate Doses of Ionizing Radiation in Young People with Cancer-Predisposing Conditions: A Systematic Review.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Canet, Maelle M; Harbron, Richard R; Thierry-Chef, Isabelle I; Cardis, Elisabeth E
Publication Date: 2022-10-04

Variant appearance in text: ATM: P1526P; rs1800889
PubMed Link: 35861626
Variant Present in the following documents:
  • Main text
  • 1871.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: ATM: 4578C>T; P1526P; rs1800889
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: ATM: 4578C>T; Pro1526=; rs1800889
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03

Variant appearance in text: ATM: 4578C>T; Pro1526Pro; rs1800889
PubMed Link: 33402737
Variant Present in the following documents:
  • 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.

Bmc Cancer
Moslemi, Masoumeh M; Moradi, Yousef Y; Dehghanbanadaki, Hojat H; Afkhami, Hamed H; Khaledi, Mansoor M; Sedighimehr, Najmeh N; Fathi, Javad J; Sohrabi, Ehsan E
Publication Date: 2021-01-05

Variant appearance in text: ATM: P1526P
PubMed Link: 33402103
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7749.pdf
View BVdb publication page



The Associations of Common Genetic Susceptibility Variants with Breast Cancer in Jordanian Arabs: A Case-Control Study.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Al-Eitan, Laith N LN; M Rababa'h, Doaa D; Aman, Hatem A HA
Publication Date: 2020-10-01

Variant appearance in text: rs1800889
PubMed Link: 33112566
Variant Present in the following documents:
  • Main text
  • APJCP-21-3045.pdf
View BVdb publication page



Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports
Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B
Publication Date: 2020-09-01

Variant appearance in text: ATM: 4578C>T; Pro1526Pro
PubMed Link: 32873813
Variant Present in the following documents:
  • 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Data on a genome-wide association study of type 2 diabetes in a Maya population.

Data In Brief
Totomoch-Serra, Armando A; Domínguez-Cruz, Miriam Givisay MG; Muñoz, María de Lourdes ML; García-Escalante, María Guadalupe MG; Burgueño, Juan J; Díaz-Badillo, Álvaro Á; Valadez-González, Nina N; Escalante, Doris Pinto DP
Publication Date: 2020-02

Variant appearance in text: rs1800889
PubMed Link: 31872004
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology
Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R
Publication Date: 2019-11-19

Variant appearance in text: ATM: P1526P; rs1800889
PubMed Link: 31744508
Variant Present in the following documents:
  • 13045_2019_802_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: ATM: P1526P; rs1800889
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.

Gastroenterology
Fischer, Catherine G CG; Beleva Guthrie, Violeta V; Braxton, Alicia M AM; Zheng, Lily L; Wang, Pei P; Song, Qianqian Q; Griffin, James F JF; Chianchiano, Peter E PE; Hosoda, Waki W; Niknafs, Noushin N; Springer, Simeon S; Dal Molin, Marco M; Masica, David D; Scharpf, Robert B RB; Thompson, Elizabeth D ED; He, Jin J; Wolfgang, Christopher L CL; Hruban, Ralph H RH; Roberts, Nicholas J NJ; Lennon, Anne Marie AM; Jiao, Yuchen Y; Karchin, Rachel R; Wood, Laura D LD
Publication Date: 2019-10

Variant appearance in text: ATM: P1526P
PubMed Link: 31175866
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: ATM: 4578C>T; Pro1526Pro; rs1800889
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



ATM in breast and brain tumors: a comprehensive review.

Cancer Biology & Medicine
Estiar, Mehrdad Asghari MA; Mehdipour, Parvin P
Publication Date: 2018-08

Variant appearance in text: ATM: Pro1526Pro
PubMed Link: 30197789
Variant Present in the following documents:
  • Main text
  • cbm-15-3-210.pdf
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: ATM: P1526P; rs1800889
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
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: rs1800889
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp007.pdf
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ATM: 4578C>T; Pro1526=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: ATM: P1526P; rs1800889
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Identification of a structurally novel BTK mutation that drives ibrutinib resistance in CLL.

Oncotarget
Sharma, Shruti S; Galanina, Natalie N; Guo, Ailin A; Lee, Jimmy J; Kadri, Sabah S; Van Slambrouck, Charles C; Long, Bradley B; Wang, Weige W; Ming, Mei M; Furtado, Larissa V LV; Segal, Jeremy P JP; Stock, Wendy W; Venkataraman, Girish G; Tang, Wei-Jen WJ; Lu, Pin P; Wang, Yue Lynn YL
Publication Date: 2016-10-18

Variant appearance in text: ATM: 4578C>T; Pro1526Pro
PubMed Link: 27626698
Variant Present in the following documents:
  • oncotarget-07-68833-s002.xlsx, sheet 3
  • oncotarget-07-68833-s002.xlsx, sheet 1
  • oncotarget-07-68833-s002.xlsx, sheet 2
View BVdb publication page



Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

Journal Of Experimental & Clinical Cancer Research : Cr
Prodosmo, Andrea A; Buffone, Amelia A; Mattioni, Manlio M; Barnabei, Agnese A; Persichetti, Agnese A; De Leo, Aurora A; Appetecchia, Marialuisa M; Nicolussi, Arianna A; Coppa, Anna A; Sciacchitano, Salvatore S; Giordano, Carolina C; Pinnarò, Paola P; Sanguineti, Giuseppe G; Strigari, Lidia L; Alessandrini, Gabriele G; Facciolo, Francesco F; Cosimelli, Maurizio M; Grazi, Gian Luca GL; Corrado, Giacomo G; Vizza, Enrico E; Giannini, Giuseppe G; Soddu, Silvia S
Publication Date: 2016-09-06

Variant appearance in text: ATM: 4578C>T; P1526P
PubMed Link: 27599564
Variant Present in the following documents:
  • Main text
  • 13046_2016_Article_410.pdf
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: ATM: 4578C>T; Pro1526=; rs1800889
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: ATM: P1526P; rs1800889
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



ATM gene mutations in sporadic breast cancer patients from Brazil.

Springerplus
Mangone, Flavia Rotea FR; Miracca, Elisabete C EC; Feilotter, Harriet E HE; Mulligan, Lois M LM; Nagai, Maria Aparecida MA
Publication Date: 2015

Variant appearance in text: ATM: 4578C>T; P1526P
PubMed Link: 25625042
Variant Present in the following documents:
  • Main text
  • 40064_2015_Article_787.pdf
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: ATM: 4578C>T; P1526P; rs1800889
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ATM: P1526P; rs1800889
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

Frontiers In Oncology
Petereit, Daniel G DG; Hahn, L Jennifer LJ; Kanekar, Shalini S; Boylan, Amy A; Bentzen, Søren M SM; Ritter, Mark M; Moser, Amy R AR
Publication Date: 2013

Variant appearance in text: ATM: 4578C>T; rs1800889
PubMed Link: 24416720
Variant Present in the following documents:
  • Main text
  • fonc-03-00318.pdf
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: rs1800889
PubMed Link: 23154078
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One
Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E
Publication Date: 2011

Variant appearance in text: rs1800889
PubMed Link: 21695249
Variant Present in the following documents:
  • pone.0018158.s001.xls, sheet 5
View BVdb publication page



Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

Human Mutation
Nguyen-Dumont, Tú T; Calvez-Kelm, Florence Le FL; Forey, Nathalie N; McKay-Chopin, Sandrine S; Garritano, Sonia S; Gioia-Patricola, Lydie L; De Silva, Deepika D; Weigel, Ron R; Sangrajrang, Suleeporn S; Lesueur, Fabienne F; Tavtigian, Sean V SV; , ; ,
Publication Date: 2009-06

Variant appearance in text: ATM: 4578C>T; rs1800889
PubMed Link: 19347964
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

Cancer Research
Concannon, Patrick P; Haile, Robert W RW; Børresen-Dale, Anne-Lise AL; Rosenstein, Barry S BS; Gatti, Richard A RA; Teraoka, Sharon N SN; Diep, T Anh TA; Jansen, Laila L; Atencio, David P DP; Langholz, Bryan B; Capanu, Marinela M; Liang, Xiaolin X; Begg, Colin B CB; Thomas, Duncan C DC; Bernstein, Leslie L; Olsen, Jørgen H JH; Malone, Kathleen E KE; Lynch, Charles F CF; Anton-Culver, Hoda H; Bernstein, Jonine L JL; ,
Publication Date: 2008-08-15

Variant appearance in text: ATM: 4578C>T; rs1800889
PubMed Link: 18701470
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: rs1800889
PubMed Link: 17623063
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATM sequence variants associate with susceptibility to non-small cell lung cancer.

International Journal Of Cancer
Yang, Hushan H; Spitz, Margaret R MR; Stewart, David J DJ; Lu, Charles C; Gorlov, Ivan P IP; Wu, Xifeng X
Publication Date: 2007-11-15

Variant appearance in text: rs1800889
PubMed Link: 17582598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.

Breast Cancer Research : Bcr
Baynes, Caroline C; Healey, Catherine S CS; Pooley, Karen A KA; Scollen, Serena S; Luben, Robert N RN; Thompson, Deborah J DJ; Pharoah, Paul D P PD; Easton, Douglas F DF; Ponder, Bruce A J BA; Dunning, Alison M AM; ,
Publication Date: 2007

Variant appearance in text: rs1800889
PubMed Link: 17428325
Variant Present in the following documents:
  • Main text
View BVdb publication page



DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Disease Markers
Magliozzi, Monia M; Piane, Maria M; Torrente, Isabella I; Sinibaldi, Lorenzo L; Rizzo, Giovanni G; Savio, Camilla C; Lulli, Patrizia P; De Luca, Alessandro A; Dallapiccola, Bruno B; Chessa, Luciana L
Publication Date: 2006

Variant appearance in text: N/A
PubMed Link: 17124347
Variant Present in the following documents:
View BVdb publication page



ATM variants and cancer risk in breast cancer patients from Southern Finland.

Bmc Cancer
Tommiska, Johanna J; Jansen, Laila L; Kilpivaara, Outi O; Edvardsen, Hege H; Kristensen, Vessela V; Tamminen, Anitta A; Aittomäki, Kristiina K; Blomqvist, Carl C; Børresen-Dale, Anne-Lise AL; Nevanlinna, Heli H
Publication Date: 2006-08-16

Variant appearance in text: N/A
PubMed Link: 16914028
Variant Present in the following documents:
View BVdb publication page



The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.

Human Mutation
Stredrick, Denise L DL; Garcia-Closas, Montserrat M; Pineda, Marbin A MA; Bhatti, Parveen P; Alexander, Bruce H BH; Doody, Michele M MM; Lissowska, Jolanta J; Peplonska, Beata B; Brinton, Louise A LA; Chanock, Stephen J SJ; Struewing, Jeffery P JP; Sigurdson, Alice J AJ
Publication Date: 2006-06

Variant appearance in text: N/A
PubMed Link: 16652348
Variant Present in the following documents:
View BVdb publication page



Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fang, Nicole Y NY; Greiner, Timothy C TC; Weisenburger, Dennis D DD; Chan, Wing C WC; Vose, Julie M JM; Smith, Lynette M LM; Armitage, James O JO; Mayer, R Aeryn RA; Pike, Brian L BL; Collins, Francis S FS; Hacia, Joseph G JG
Publication Date: 2003-04-29

Variant appearance in text: ATM: P1526P
PubMed Link: 12697903
Variant Present in the following documents:
  • Main text
View BVdb publication page