ATM c.4138C>T ;(p.H1380Y)

Variant ID: 11-108159732-C-T

NM_000051.3(ATM):c.4138C>T;(p.H1380Y)

This variant was identified in 47 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: rs3092856
PubMed Link: 37152050
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: ATM: H1380Y; rs3092856
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: ATM: H1380Y
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: ATM: H1380Y; rs3092856
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 14
View BVdb publication page



Molecular-Targeted Therapy for Tumor-Agnostic Mutations in Acute Myeloid Leukemia.

Biomedicines
Arai, Hironori H; Minami, Yosuke Y; Chi, SungGi S; Utsu, Yoshikazu Y; Masuda, Shinichi S; Aotsuka, Nobuyuki N
Publication Date: 2022-11-22

Variant appearance in text: rs3092856
PubMed Link: 36551764
Variant Present in the following documents:
  • Main text
  • biomedicines-10-03008.pdf
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: H1380Y; rs3092856
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.

Bmc Genomic Data
Vanlallawma, Andrew A; Lallawmzuali, Doris D; Pautu, Jeremy L JL; Scaria, Vinod V; Sivasubbu, Sridhar S; Kumar, Nachimuthu Senthil NS
Publication Date: 2022-03-28

Variant appearance in text: ATM: H1380Y
PubMed Link: 35350997
Variant Present in the following documents:
  • 12863_2022_Article_1037.pdf
View BVdb publication page



p16INK4A-deficiency predicts response to combined HER2 and CDK4/6 inhibition in HER2+ breast cancer brain metastases.

Nature Communications
Ni, Jing J; Kabraji, Sheheryar S; Xie, Shaozhen S; Wang, Yanzhi Y; Pan, Peichen P; He, Xiaofang X; Liu, Zongming Z; Leone, Jose Palbo JP; Long, Henry W HW; Brown, Myles A MA; Winer, Eric P EP; Dillon, Deborah A R DAR; Lin, Nancy U NU; Zhao, Jean J JJ
Publication Date: 2022-03-18

Variant appearance in text: ATM: His1380Tyr
PubMed Link: 35304445
Variant Present in the following documents:
  • 41467_2022_29081_MOESM3_ESM.xlsx, sheet 16
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: 4138C>T; H1380Y; rs3092856
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: ATM: 4138C>T; H1380Y; rs3092856
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology
Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M
Publication Date: 2022

Variant appearance in text: rs3092856
PubMed Link: 35112701
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20210172-s4.pdf
View BVdb publication page



Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology
Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M
Publication Date: 2022

Variant appearance in text: rs3092856
PubMed Link: 35112701
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20210172-s4.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: 4138C>T; His1380Tyr; rs3092856
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ATM: H1380Y; rs3092856
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021

Variant appearance in text: ATM: 4138C>T; His1380Tyr
PubMed Link: 33747920
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 7
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: 4138C>T; His1380Tyr; rs3092856
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Panel-based targeted exome sequencing reveals novel candidate susceptibility loci for age-related cataracts in Chinese Cohort.

Molecular Genetics & Genomic Medicine
Li, Jian-Kang JK; Li, Li-Li LL; Li, Wei W; Wang, Zi-Wei ZW; Gao, Feng-Juan FJ; Hu, Fang-Yuan FY; Zhang, Sheng-Hai SH; Qu, Shou-Fang SF; Huang, Jie J; Wang, Lu-Sheng LS; Wu, Ji-Hong JH; Chen, Fang F
Publication Date: 2020-07

Variant appearance in text: rs3092856
PubMed Link: 32337810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: ATM: 4138C>T; H1380Y; rs3092856
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: ATM: 4138C>T; H1380Y
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.

Nature Communications
Katayama, Ryohei R; Gong, Bo B; Togashi, Noriko N; Miyamoto, Masaya M; Kiga, Masaki M; Iwasaki, Shiho S; Kamai, Yasuki Y; Tominaga, Yuichi Y; Takeda, Yasuyuki Y; Kagoshima, Yoshiko Y; Shimizu, Yuki Y; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Nakao, Naoki N; Hanzawa, Hiroyuki H; Watanabe, Kengo K; Yoda, Satoshi S; Yanagitani, Noriko N; Hata, Aaron N AN; Shaw, Alice T AT; Nishio, Makoto M; Fujita, Naoya N; Isoyama, Takeshi T
Publication Date: 2019-08-09

Variant appearance in text: ATM: 4138C>T; H1380Y; rs3092856
PubMed Link: 31399568
Variant Present in the following documents:
  • 41467_2019_11496_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: ATM: 4138C>T; His1380Tyr
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Theranostics
Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
Publication Date: 2019

Variant appearance in text: ATM: H1380Y
PubMed Link: 30809292
Variant Present in the following documents:
  • thnov09p0540s1.pdf
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: 4138C>T; His1380Tyr; rs3092856
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Association of ATM and BMI-1 genetic variation with breast cancer risk in Han Chinese.

Journal Of Cellular And Molecular Medicine
Yue, Li-Ling LL; Wang, Fu-Chao FC; Zhang, Ming-Long ML; Liu, Dan D; Chen, Ping P; Mei, Qing-Bu QB; Li, Peng-Hui PH; Pan, Hong-Ming HM; Zheng, Li-Hong LH
Publication Date: 2018-07

Variant appearance in text: rs3092856
PubMed Link: 29691986
Variant Present in the following documents:
  • Main text
  • JCMM-22-3671.pdf
View BVdb publication page



Circulating tumor DNA shows variable clonal response of breast cancer during neoadjuvant chemotherapy.

Oncotarget
Kim, Ji-Yeon JY; Park, Donghyun D; Son, Dae-Soon DS; Nam, Seok Jin SJ; Kim, Seok Won SW; Jung, Hae Hyun HH; Kim, Yeon Jeong YJ; Park, Gahee G; Park, Woong-Yang WY; Lee, Jeong Eon JE; Park, Yeon Hee YH
Publication Date: 2017-10-17

Variant appearance in text: ATM: H1380Y
PubMed Link: 29156805
Variant Present in the following documents:
  • Main text
  • oncotarget-08-86423.pdf
View BVdb publication page



Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Oncotarget
Nakagaki, Takafumi T; Tamura, Miyuki M; Kobashi, Kenta K; Koyama, Ryota R; Fukushima, Hisayo H; Ohashi, Tomoko T; Idogawa, Masashi M; Ogi, Kazuhiro K; Hiratsuka, Hiroyoshi H; Tokino, Takashi T; Sasaki, Yasushi Y
Publication Date: 2017-08-29

Variant appearance in text: ATM: His1380Tyr
PubMed Link: 28938622
Variant Present in the following documents:
  • oncotarget-08-59113-s006.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: ATM: H1380Y; rs3092856
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
  • jmedgenet-2017-104588supp007.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: 4138C>T; His1380Tyr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports
Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V
Publication Date: 2017-03-03

Variant appearance in text: ATM: H1380Y
PubMed Link: 28256603
Variant Present in the following documents:
  • srep42980-s2.xls, sheet 7
  • srep42980-s2.xls, sheet 9
View BVdb publication page



Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One
Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM
Publication Date: 2017

Variant appearance in text: ATM: H1380Y; rs3092856
PubMed Link: 28076423
Variant Present in the following documents:
  • pone.0167581.s001.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: ATM: 4138C>T; H1380Y; rs3092856
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ATM: H1380Y
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics
Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI
Publication Date: 2014-12

Variant appearance in text: ATM: H1380Y
PubMed Link: 25530832
Variant Present in the following documents:
  • Main text
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: ATM: H1380Y; rs3092856
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: ATM: H1380Y; rs3092856
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
  • pone.0094554.s002.xlsx, sheet 3
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: 4138C>T; His1380Tyr; rs3092856
PubMed Link: 24416720
Variant Present in the following documents:
  • Main text
  • fonc-03-00318.pdf
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: ATM: H1380Y; rs3092856
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page



Estimating the rate of irreversibility in protein evolution.

Genome Biology And Evolution
Soylemez, Onuralp O; Kondrashov, Fyodor A FA
Publication Date: 2012

Variant appearance in text: ATM: H1380Y
PubMed Link: 23132897
Variant Present in the following documents:
  • evs096.pdf
View BVdb publication page



An informatics approach to analyzing the incidentalome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Berg, Jonathan S JS; Adams, Michael M; Nassar, Nassib N; Bizon, Chris C; Lee, Kristy K; Schmitt, Charles P CP; Wilhelmsen, Kirk C KC; Evans, James P JP
Publication Date: 2013-01

Variant appearance in text: ATM: 4138C>T; H1380Y; rs3092856
PubMed Link: 22995991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Incidence and clinical implications of ATM aberrations in chronic lymphocytic leukemia.

Genes, Chromosomes & Cancer
Ouillette, Peter P; Li, Jinghui J; Shaknovich, Rita R; Li, Yifeng Y; Melnick, Ari A; Shedden, Kerby K; Malek, Sami N SN
Publication Date: 2012-12

Variant appearance in text: rs3092856
PubMed Link: 22952040
Variant Present in the following documents:
  • Main text
View BVdb publication page



Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One
George Priya Doss, C C; Rajith, B B
Publication Date: 2012

Variant appearance in text: ATM: H1380Y
PubMed Link: 22529920
Variant Present in the following documents:
View BVdb publication page



Personalized medicine: challenge and promise.

Journal Of Cancer Education : The Official Journal Of The American Association For Cancer Education
Kaur, Judith Salmon JS; Petereit, Daniel G DG
Publication Date: 2012-04

Variant appearance in text: ATM: 4138C>T
PubMed Link: 22403001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: ATM: H1380Y
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
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Analysis of variants in DNA damage signalling genes in bladder cancer.

Bmc Medical Genetics
Choudhury, Ananya A; Elliott, Faye F; Iles, Mark M MM; Churchman, Michael M; Bristow, Robert G RG; Bishop, D Timothy DT; Kiltie, Anne E AE
Publication Date: 2008-07-18

Variant appearance in text: rs3092856
PubMed Link: 18638378
Variant Present in the following documents:
  • Main text
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The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Breast Cancer Research And Treatment
Broeks, Annegien A; Braaf, Linde M LM; Huseinovic, Angelina A; Schmidt, Marjanka K MK; Russell, Nicola S NS; van Leeuwen, Flora E FE; Hogervorst, Frans B L FB; Van 't Veer, Laura J LJ
Publication Date: 2008-01

Variant appearance in text: ATM: H1380Y
PubMed Link: 17393301
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: rs3092856
PubMed Link: 17132159
Variant Present in the following documents:
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Global analysis of ATM polymorphism reveals significant functional constraint.

American Journal Of Human Genetics
Thorstenson, Y R YR; Shen, P P; Tusher, V G VG; Wayne, T L TL; Davis, R W RW; Chu, G G; Oefner, P J PJ
Publication Date: 2001-08

Variant appearance in text: ATM: H1380Y
PubMed Link: 11443540
Variant Present in the following documents:
  • Main text
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