Publications:

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Antibody-Drug Conjugate Efficacy in Neuroblastoma: Role of Payload, Resistance Mechanisms, Target Density, and Antibody Internalization.

Molecular Cancer Therapeutics

Buongervino, Samantha S; Lane, Maria V MV; Garrigan, Emily E; Zhelev, Doncho V DV; Dimitrov, Dimiter S DS; Bosse, Kristopher R KR

Publication Date: 2021-11

Variant appearance in text: ATM: R189K

PubMed Link: 34465595

Variant Present in the following documents:

• Main text
• 2228.pdf

View BVdb publication page

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Antibody-Drug Conjugate Efficacy in Neuroblastoma: Role of Payload, Resistance Mechanisms, Target Density, and Antibody Internalization.

Molecular Cancer Therapeutics

Buongervino, Samantha S; Lane, Maria V MV; Garrigan, Emily E; Zhelev, Doncho V DV; Dimitrov, Dimiter S DS; Bosse, Kristopher R KR

Publication Date: 2021-11

Variant appearance in text: ATM: R189K

PubMed Link: 34465595

Variant Present in the following documents:

• Main text
• 2228.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: 566G>A; R189K; rs79075295

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: ATM: R189K

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: ATM: R189K; rs79075295

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: ATM: 566G>A; R189K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pembrolizumab for metastatic adrenocortical carcinoma with high mutational burden: Two case reports.

Medicine

Mota, Jose Mauricio JM; Sousa, Luana Guimarães LG; Braghiroli, Maria Ignez MI; Siqueira, Luiz Tenório LT; Neto, João Evangelista Bezerra JEB; Chapchap, Paulo P; Hoff, Ana A de Oliveira AAO; Hoff, Paulo M PM

Publication Date: 2018-12

Variant appearance in text: ATM: R189K

PubMed Link: 30593126

Variant Present in the following documents:

• medi-97-e13517.pdf

View BVdb publication page

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Comprehensive Genomic Profiling of Hodgkin Lymphoma Reveals Recurrently Mutated Genes and Increased Mutation Burden.

The Oncologist

Liang, Winnie S WS; Vergilio, Jo-Anne JA; Salhia, Bodour B; Huang, Helen J HJ; Oki, Yasuhiro Y; Garrido-Laguna, Ignacio I; Park, Haeseong H; Westin, Jason R JR; Meric-Bernstam, Funda F; Fabrizio, David D; Miller, Vincent A VA; Stephens, Philip J PJ; Fanale, Michelle A MA; Ross, Jeffrey S JS; Janku, Filip F

Publication Date: 2019-02

Variant appearance in text: ATM: R189K

PubMed Link: 30108156

Variant Present in the following documents:

• onco12682.pdf

View BVdb publication page

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Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.

Jco Precision Oncology

Dalton, W Brian WB; Forde, Patrick M PM; Kang, Hyunseok H; Connolly, Roisin M RM; Stearns, Vered V; Gocke, Christopher D CD; Eshleman, James R JR; Axilbund, Jennifer J; Petry, Dana D; Geoghegan, Cindy C; Wolff, Antonio C AC; Loeb, David M DM; Pratilas, Christine A CA; Meyer, Christian F CF; Christenson, Eric S ES; Slater, Shannon A SA; Ensminger, Jennifer J; Parsons, Heather A HA; Park, Ben H BH; Lauring, Josh J

Publication Date: 2017

Variant appearance in text: ATM: R189K

PubMed Link: 30003184

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 566G>A; Arg189Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Nykamp, Keith K; Anderson, Michael M; Powers, Martin M; Garcia, John J; Herrera, Blanca B; Ho, Yuan-Yuan YY; Kobayashi, Yuya Y; Patil, Nila N; Thusberg, Janita J; Westbrook, Marjorie M; , ; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 566G>A

PubMed Link: 28492532

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Genome Medicine

Oberg, Jennifer A JA; Glade Bender, Julia L JL; Sulis, Maria Luisa ML; Pendrick, Danielle D; Sireci, Anthony N AN; Hsiao, Susan J SJ; Turk, Andrew T AT; Dela Cruz, Filemon S FS; Hibshoosh, Hanina H; Remotti, Helen H; Zylber, Rebecca J RJ; Pang, Jiuhong J; Diolaiti, Daniel D; Koval, Carrie C; Andrews, Stuart J SJ; Garvin, James H JH; Yamashiro, Darrell J DJ; Chung, Wendy K WK; Emerson, Stephen G SG; Nagy, Peter L PL; Mansukhani, Mahesh M MM; Kung, Andrew L AL

Publication Date: 2016-12-23

Variant appearance in text: ATM: 566G>A; R189K

PubMed Link: 28007021

Variant Present in the following documents:

• Main text
• 13073_2016_Article_389.pdf

View BVdb publication page

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Presence of both alterations in FGFR/FGF and PI3K/AKT/mTOR confer improved outcomes for patients with metastatic breast cancer treated with PI3K/AKT/mTOR inhibitors.

Oncoscience

Wheler, Jennifer J JJ; Atkins, Johnique T JT; Janku, Filip F; Moulder, Stacy L SL; Stephens, Philip J PJ; Yelensky, Roman R; Valero, Vicente V; Miller, Vincent V; Kurzrock, Razelle R; Meric-Bernstam, Funda F

Publication Date: 2016

Variant appearance in text: ATM: R189K

PubMed Link: 27489863

Variant Present in the following documents:

• Main text
• oncoscience-03-164.pdf

View BVdb publication page

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Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One

Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH

Publication Date: 2015

Variant appearance in text: ATM: R189K; rs79075295

PubMed Link: 26670335

Variant Present in the following documents:

• pone.0144528.s006.xlsx, sheet 1
• pone.0144528.s005.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: ATM: R189K; rs79075295

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 1
• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 2

View BVdb publication page

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Oncogenic mutation profiling in new lung cancer and mesothelioma cell lines.

Oncotargets And Therapy

Lam, David Cl DC; Luo, Susan Y SY; Deng, Wen W; Kwan, Johnny Sh JSh; Rodriguez-Canales, Jaime J; Cheung, Annie Lm AL; Cheng, Grace Hw GH; Lin, Chi-Ho CH; Wistuba, Ignacio I II; Sham, Pak C PC; Wan, Thomas Sk TS; Tsao, Sai-Wah SW

Publication Date: 2015

Variant appearance in text: ATM: R189K; rs79075295

PubMed Link: 25653542

Variant Present in the following documents:

• Main text
• ott-8-195.pdf

View BVdb publication page

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Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: ATM: R189K; rs79075295

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 2

View BVdb publication page

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Mutational landscape of candidate genes in familial prostate cancer.

The Prostate

Johnson, Anna M AM; Zuhlke, Kimberly A KA; Plotts, Chris C; McDonnell, Shannon K SK; Middha, Sumit S; Riska, Shaun M SM; Schaid, Daniel J DJ; Thibodeau, Stephen N SN; Douglas, Julie A JA; Cooney, Kathleen A KA

Publication Date: 2014-10

Variant appearance in text: ATM: Arg189Lys

PubMed Link: 25111073

Variant Present in the following documents:

• Main text

View BVdb publication page

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