Publications:

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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: 995A>G; Y332C

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

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: Y332C

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

Jama Network Open

George, Sophia H L SHL; Donenberg, Talia T; Alexis, Cheryl C; DeGennaro, Vincent V; Dyer, Hedda H; Yin, Sook S; Ali, Jameel J; Butler, Raleigh R; Chin, Sheray N SN; Curling, DuVaughn D; Lowe, Dwight D; Lunn, John J; Turnquest, Theodore T; Wharfe, Gilian G; Cerbon, Danielle D; Barreto-Coelho, Priscila P; Schlumbrecht, Matthew P MP; Akbari, Mohammad R MR; Narod, Steven A SA; Hurley, Judith E JE

Publication Date: 2021-03-01

Variant appearance in text: ATM: 995A>G

PubMed Link: 33646313

Variant Present in the following documents:

• jamanetwopen-e210307-s001.pdf

View BVdb publication page

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Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

European Urology Oncology

Karlsson, Questa Q; Brook, Mark N MN; Dadaev, Tokhir T; Wakerell, Sarah S; Saunders, Edward J EJ; Muir, Kenneth K; Neal, David E DE; Giles, Graham G GG; MacInnis, Robert J RJ; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Cannon-Albright, Lisa L; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Huff, Chad C; Li, Donghui D; Yao, Yu Y; Scheet, Paul P; Permuth, Jennifer B JB; Stanford, Janet L JL; Dai, James Y JY; Ostrander, Elaine A EA; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Hoegel, Josef J; Herkommer, Kathleen K; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Rathinakannan, Venkat V; Sipeky, Csilla C; Wiklund, Fredrik F; Grönberg, Henrik H; Aly, Markus M; Isaacs, William B WB; Dickinson, Jo L JL; FitzGerald, Liesel M LM; Chua, Melvin L K MLK; Nguyen-Dumont, Tu T; , ; Schaid, Daniel J DJ; Southey, Melissa C MC; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z

Publication Date: 2021-08

Variant appearance in text: ATM: 995A>G; Y332C

PubMed Link: 33436325

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: ATM: 995A>G; Y332C

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Haematologica

Tausch, Eugen E; Beck, Philipp P; Schlenk, Richard F RF; Jebaraj, Billy J BJ; Dolnik, Anna A; Yosifov, Deyan Y DY; Hillmen, Peter P; Offner, Fritz F; Janssens, Ann A; Babu, Govind K GK; Grosicki, Sebastian S; Mayer, Jiri J; Panagiotidis, Panagiotis P; McKeown, Astrid A; Gupta, Ira V IV; Skorupa, Alexandra A; Pallaud, Celine C; Bullinger, Lars L; Mertens, Daniel D; Döhner, Hartmut H; Stilgenbauer, Stephan S

Publication Date: 2020-10-01

Variant appearance in text: ATM: Y332C

PubMed Link: 33054084

Variant Present in the following documents:

• 2019.229161.TAUSCH_SUPPL.pdf

View BVdb publication page

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Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.

Plos Genetics

Paulo, Paula P; Maia, Sofia S; Pinto, Carla C; Pinto, Pedro P; Monteiro, Augusta A; Peixoto, Ana A; Teixeira, Manuel R MR

Publication Date: 2018-04

Variant appearance in text: ATM: 995A>G; Tyr332Cys

PubMed Link: 29659569

Variant Present in the following documents:

• Main text
• pgen.1007355.pdf

View BVdb publication page

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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: Y332C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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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: Y332C

PubMed Link: 22529920

Variant Present in the following documents:

View BVdb publication page

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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: Y332C

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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