ATM c.5697C>A ;(p.C1899*)

Variant ID: 11-108178646-C-A

NM_000051.3(ATM):c.5697C>A;(p.C1899*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Advantages and Limitations of Monitoring Circulating Tumor DNA Levels to Predict the Prognosis of Patients Diagnosed With Gastric Cancer.

Biomarker Insights
He, Wan W; Yang, Jingxin J; Sun, Xiao X; Jiang, Shunda S; Jiang, Jinchan J; Liu, Ming M; Mu, Tianhao T; Li, Yingmei Y; Zhang, Xiaoni X; Duan, Jingxian J; Xu, Ruilian R
Publication Date: 2022

Variant appearance in text: ATM: 5697C>A; C1899*
PubMed Link: 36533271
Variant Present in the following documents:
  • sj-xlsx-2-bmi-10.1177_11772719221141525.xlsx, sheet 1
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: ATM: C1899*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: ATM: 5697C>A; Cys1899Ter; rs753839301
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: ATM: 5697C>A; C1899*; rs753839301
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM4_ESM.xlsx, sheet 1
  • 41467_2022_28840_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: ATM: 5697C>A; Cys1899Ter
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: ATM: 5697C>A; Cys1899Ter
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic alterations in tumor tissue and ctDNA from Chinese pancreatic cancer patients.

American Journal Of Cancer Research
Xiong, Anwen A; Ma, Ning N; Wei, Guo G; Li, Chunhua C; Li, Kainan K; Wang, Bin B
Publication Date: 2021

Variant appearance in text: ATM: 5697C>A; Cys1899*
PubMed Link: 34659905
Variant Present in the following documents:
  • Main text
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: 5697C>A; C1899X; rs753839301
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.

Journal Of Translational Medicine
Shui, Lin L; Li, Xiaofen X; Peng, Yang Y; Tian, Jiangfang J; Li, Shuangshuang S; He, Du D; Li, Ang A; Tian, Bole B; Li, Mao M; Gao, Heli H; An, Ning N; Yi, Cheng C; Cao, Dan D
Publication Date: 2021-07-12

Variant appearance in text: ATM: C1899*
PubMed Link: 34247626
Variant Present in the following documents:
  • Main text
  • 12967_2021_Article_2972.pdf
View BVdb publication page



Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.

Genes
Toss, Angela A; Tenedini, Elena E; Piombino, Claudia C; Venturelli, Marta M; Marchi, Isabella I; Gasparini, Elisa E; Barbieri, Elena E; Razzaboni, Elisabetta E; Domati, Federica F; Caggia, Federica F; Grandi, Giovanni G; Combi, Francesca F; Tazzioli, Giovanni G; Dominici, Massimo M; Tagliafico, Enrico E; Cortesi, Laura L
Publication Date: 2021-04-21

Variant appearance in text: ATM: 5697C>A
PubMed Link: 33919281
Variant Present in the following documents:
  • Main text
View BVdb publication page



The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.

Cancer Biology & Medicine
Fan, Yue Y; Ying, Haifeng H; Wu, Xueying X; Chen, Huan H; Hu, Ying Y; Zhang, Henghui H; Wu, Lijia L; Yang, Ying Y; Mao, Beibei B; Zheng, Lan L
Publication Date: 2020-11-15

Variant appearance in text: ATM: 5697C>A; C1899*
PubMed Link: 33299649
Variant Present in the following documents:
  • cbm-17-1002-s001.pdf
View BVdb publication page



Maintenance of pegylated liposomal doxorubicin/carboplatin in patients with advanced ovarian cancer: randomized study of an Asian Gynecologic Oncology Group.

Journal Of Gynecologic Oncology
Lai, Chyong Huey CH; Vallikad, Elizabeth E; Lin, Hao H; Yang, Lan Yan LY; Jung, Shih Ming SM; Liu, Hsueh Erh HE; Ou, Yu Che YC; Chou, Hung Hsueh HH; Lin, Cheng Tao CT; Huang, Huei Jean HJ; Huang, Kuan Gen KG; Qiu, Jiantai J; Hung, Yao Ching YC; Wu, Tzu I TI; Chang, Wei Yang WY; Tan, Kien Thiam KT; Lin, Chiao Yun CY; Chao, Angel A; Chang, Chee Jen CJ
Publication Date: 2020-01

Variant appearance in text: ATM: 5697C>A; Cys1899Ter
PubMed Link: 31788995
Variant Present in the following documents:
  • Main text
  • jgo-31-e5.pdf
View BVdb publication page



Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Cancer Medicine
Wang, Jiayu J; Li, Weiwei W; Shi, Yujian Y; Huang, Yan Y; Sun, Tao T; Tang, Lili L; Lu, Qing Q; Lei, Qiumo Q; Liao, Ning N; Jin, Feng F; Li, Hui H; Huang, Tao T; Qian, Jun J; Pang, Danmei D; Wang, Shusen S; Fan, Peizhi P; Wu, Xinhong X; Lin, Ying Y; Qin, Haiyan H; Xu, Binghe B
Publication Date: 2019-05

Variant appearance in text: ATM: 5697C>A; Cys1899Ter
PubMed Link: 30982232
Variant Present in the following documents:
  • CAM4-8-2074-s004.xlsx, sheet 1
View BVdb publication page



Uncovering the genomic heterogeneity of multifocal breast cancer.

The Journal Of Pathology
Desmedt, Christine C; Fumagalli, Debora D; Pietri, Elisabetta E; Zoppoli, Gabriele G; Brown, David D; Nik-Zainal, Serena S; Gundem, Gunes G; Rothé, Françoise F; Majjaj, Samira S; Garuti, Anna A; Carminati, Enrico E; Loi, Sherene S; Van Brussel, Thomas T; Boeckx, Bram B; Maetens, Marion M; Mudie, Laura L; Vincent, Delphine D; Kheddoumi, Naima N; Serra, Luigi L; Massa, Ilaria I; Ballestrero, Alberto A; Amadori, Dino D; Salgado, Roberto R; de Wind, Alexandre A; Lambrechts, Diether D; Piccart, Martine M; Larsimont, Denis D; Campbell, Peter J PJ; Sotiriou, Christos C
Publication Date: 2015-08

Variant appearance in text: ATM: 5697C>A; C1899*
PubMed Link: 25850943
Variant Present in the following documents:
  • path0236-0457-sd9.xlsx, sheet 1
View BVdb publication page