ATM c.171G>A ;(p.W57*)

Variant ID: 11-108098601-G-A

NM_000051.3(ATM):c.171G>A;(p.W57*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03

Variant appearance in text: ATM: W57X
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.

International Journal Of Molecular Sciences
Dragoš, Vita Šetrajčič VŠ; Strojnik, Ksenija K; Klančar, Gašper G; Škerl, Petra P; Stegel, Vida V; Blatnik, Ana A; Banjac, Marta M; Krajc, Mateja M; Novaković, Srdjan S
Publication Date: 2022-07-04

Variant appearance in text: ATM: Trp57*
PubMed Link: 35806449
Variant Present in the following documents:
  • ijms-23-07446.pdf
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: ATM: W57*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
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: 171G>A; W57*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Ebiomedicine
Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F
Publication Date: 2021-04

Variant appearance in text: ATM: W57X
PubMed Link: 33862582
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Rotunno, Melissa M; Barajas, Rolando R; Clyne, Mindy M; Hoover, Elise E; Simonds, Naoko I NI; Lam, Tram Kim TK; Mechanic, Leah E LE; Goldstein, Alisa M AM; Gillanders, Elizabeth M EM
Publication Date: 2020-08

Variant appearance in text: ATM: W57*
PubMed Link: 32467344
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms.

Gastroenterology
Skaro, Michael M; Nanda, Neha N; Gauthier, Christian C; Felsenstein, Matthäus M; Jiang, Zhengdong Z; Qiu, Miaozhen M; Shindo, Koji K; Yu, Jun J; Hutchings, Danielle D; Javed, Ammar A AA; Beckman, Ross R; He, Jin J; Wolfgang, Christopher L CL; Thompson, Elizabeth E; Hruban, Ralph H RH; Klein, Alison P AP; Goggins, Michael M; Wood, Laura D LD; Roberts, Nicholas J NJ
Publication Date: 2019-05

Variant appearance in text: ATM: W57X
PubMed Link: 30716324
Variant Present in the following documents:
  • Main text
View BVdb publication page



Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
Publication Date: 2017-11

Variant appearance in text: ATM: W57X
PubMed Link: 28991257
Variant Present in the following documents:
  • NIHMS906719-supplement-supp_datasets.xlsx, sheet 8
View BVdb publication page



Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.

Nature Communications
Burger, Jan A JA; Landau, Dan A DA; Taylor-Weiner, Amaro A; Bozic, Ivana I; Zhang, Huidan H; Sarosiek, Kristopher K; Wang, Lili L; Stewart, Chip C; Fan, Jean J; Hoellenriegel, Julia J; Sivina, Mariela M; Dubuc, Adrian M AM; Fraser, Cameron C; Han, Yulong Y; Li, Shuqiang S; Livak, Kenneth J KJ; Zou, Lihua L; Wan, Youzhong Y; Konoplev, Sergej S; Sougnez, Carrie C; Brown, Jennifer R JR; Abruzzo, Lynne V LV; Carter, Scott L SL; Keating, Michael J MJ; Davids, Matthew S MS; Wierda, William G WG; Cibulskis, Kristian K; Zenz, Thorsten T; Werner, Lillian L; Dal Cin, Paola P; Kharchencko, Peter P; Neuberg, Donna D; Kantarjian, Hagop H; Lander, Eric E; Gabriel, Stacey S; O'Brien, Susan S; Letai, Anthony A; Weitz, David A DA; Nowak, Martin A MA; Getz, Gad G; Wu, Catherine J CJ
Publication Date: 2016-05-20

Variant appearance in text: ATM: 171G>A; W57*
PubMed Link: 27199251
Variant Present in the following documents:
  • ncomms11589-s2.xlsx, sheet 1
View BVdb publication page



Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
LaDuca, Holly H; Stuenkel, A J AJ; Dolinsky, Jill S JS; Keiles, Steven S; Tandy, Stephany S; Pesaran, Tina T; Chen, Elaine E; Gau, Chia-Ling CL; Palmaer, Erika E; Shoaepour, Kamelia K; Shah, Divya D; Speare, Virginia V; Gandomi, Stephanie S; Chao, Elizabeth E
Publication Date: 2014-11

Variant appearance in text: ATM: W57X
PubMed Link: 24763289
Variant Present in the following documents:
  • gim201440x3.xls, sheet 1
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: W57X
PubMed Link: 12697903
Variant Present in the following documents:
  • Main text
View BVdb publication page