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: 446_449del

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Ebiomedicine

Heddar, Abdelkader A; Ogur, Cagri C; Da Costa, Sabrina S; Braham, Inès I; Billaud-Rist, Line L; Findikli, Necati N; Beneteau, Claire C; Reynaud, Rachel R; Mahmoud, Khaled K; Legrand, Stéphanie S; Marchand, Maud M; Cedrin-Durnerin, Isabelle I; Cantalloube, Adèle A; Peigne, Maeliss M; Bretault, Marion M; Dagher-Hayeck, Benedicte B; Perol, Sandrine S; Droumaguet, Celine C; Cavkaytar, Sabri S; Nicolas-Bonne, Carole C; Elloumi, Hanen H; Khrouf, Mohamed M; Rougier-LeMasle, Charlotte C; Fradin, Melanie M; Le Boette, Elsa E; Luigi, Perrine P; Guerrot, Anne-Marie AM; Ginglinger, Emmanuelle E; Zampa, Amandine A; Fauconnier, Anais A; Auger, Nathalie N; Paris, Françoise F; Brischoux-Boucher, Elise E; Cabrol, Christelle C; Brun, Aurore A; Guyon, Laura L; Berard, Melanie M; Riviere, Axelle A; Gruchy, Nicolas N; Odent, Sylvie S; Gilbert-Dussardier, Brigitte B; Isidor, Bertrand B; Piard, Juliette J; Lambert, Laetitia L; Hamamah, Samir S; Guedj, Anne Marie AM; Brac de la Perriere, Aude A; Fernandez, Hervé H; Raffin-Sanson, Marie-Laure ML; Polak, Michel M; Letur, Hélène H; Epelboin, Sylvie S; Plu-Bureau, Genevieve G; Wołczyński, Sławomir S; Hieronimus, Sylvie S; Aittomaki, Kristiina K; Catteau-Jonard, Sophie S; Misrahi, Micheline M

Publication Date: 2022-10

Variant appearance in text: ATM: 450_453del; Ser151Ter

PubMed Link: 36099812

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: ATM: 450_453delTTCT; Ser151fs

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.

Therapeutic Advances In Medical Oncology

Emelyanova, Marina M; Pudova, Elena E; Khomich, Darya D; Krasnov, George G; Popova, Anna A; Abramov, Ivan I; Mikhailovich, Vladimir V; Filipenko, Maxim M; Menshikova, Sofia S; Tjulandin, Sergey S; Pokataev, Ilya I

Publication Date: 2022

Variant appearance in text: ATM: 446_449del

PubMed Link: 35309086

Variant Present in the following documents:

• sj-xlsx-1-tam-10.1177_17588359221083050.xlsx, sheet 1

View BVdb publication page

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Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Scientific Reports

Rawat, Amit A; Tyagi, Rahul R; Chaudhary, Himanshi H; Pandiarajan, Vignesh V; Jindal, Ankur Kumar AK; Suri, Deepti D; Gupta, Anju A; Sharma, Madhubala M; Arora, Kanika K; Bal, Amanjit A; Madaan, Priyanka P; Saini, Lokesh L; Sahu, Jitendra Kumar JK; Ogura, Yumi Y; Kato, Tamaki T; Imai, Kohsuke K; Nonoyama, Shigeaki S; Singh, Surjit S

Publication Date: 2022-03-08

Variant appearance in text: ATM: 450_453delTTCT

PubMed Link: 35260754

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8019.pdf

View BVdb publication page

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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: 450_453delTTCT; Ser151Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ATM: 446_449delTTCT

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 450_453delTTCT

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Oncotarget

Huang, Dong-Sheng DS; Tao, Hou-Quan HQ; He, Xu-Jun XJ; Long, Ming M; Yu, Sheng S; Xia, Ying-Jie YJ; Wei, Zhang Z; Xiong, Zikai Z; Jones, Sian S; He, Yiping Y; Yan, Hai H; Wang, Xiaoyue X

Publication Date: 2015-12-01

Variant appearance in text: ATM: 446_449del

PubMed Link: 26506520

Variant Present in the following documents:

• Main text

View BVdb publication page

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