Publications:

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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: W156X

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine

Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y

Publication Date: 2022-06

Variant appearance in text: ATM: W156*

PubMed Link: 35665479

Variant Present in the following documents:

• Main text
• CTM2-12-e843.pdf

View BVdb publication page

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ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Cancers

Putti, Sabrina S; Giovinazzo, Alessandro A; Merolle, Matilde M; Falchetti, Maria Laura ML; Pellegrini, Manuela M

Publication Date: 2021-11-01

Variant appearance in text: ATM: W156X

PubMed Link: 34771661

Variant Present in the following documents:

• Main text
• cancers-13-05498.pdf

View BVdb publication page

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Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.

Scientific Reports

Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Holth, Arild A; Capella, Gabriel G; Davidson, Ben B; Evans, D Gareth DG; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2019-12-06

Variant appearance in text: ATM: 468G>A; Trp156*

PubMed Link: 31811167

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54517.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: ATM: Trp156*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: ATM: W156X

PubMed Link: 30886832

Variant Present in the following documents:

• Main text
• fonc-09-00123.pdf

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: ATM: W156*

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Hereditary Cancer In Clinical Practice

Dominguez-Valentin, Mev M; Evans, D Gareth R DGR; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2018

Variant appearance in text: ATM: 468G>A; Trp156Ter

PubMed Link: 29371908

Variant Present in the following documents:

• Main text
• 13053_2018_Article_86.pdf

View BVdb publication page

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Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British Journal Of Cancer

Reiman, A A; Srinivasan, V V; Barone, G G; Last, J I JI; Wootton, L L LL; Davies, E G EG; Verhagen, M M MM; Willemsen, M A MA; Weemaes, C M CM; Byrd, P J PJ; Izatt, L L; Easton, D F DF; Thompson, D J DJ; Taylor, A M AM

Publication Date: 2011-08-09

Variant appearance in text: ATM: 468G>A; Trp156X

PubMed Link: 21792198

Variant Present in the following documents:

View BVdb publication page

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