Publications:

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Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.

Frontiers In Pediatrics

Liu, Zhi-Jun ZJ; Wang, Ya-Ling YL; Xu, Yan Y

Publication Date: 2023

Variant appearance in text: ATM: 6679C>T; R2227C

PubMed Link: 37009283

Variant Present in the following documents:

• fped-11-975696.pdf

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: ATM: 6679C>T; Arg2227Cys; rs564652222

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: ATM: R2227C

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Frontiers In Oncology

Borja, Nicholas A NA; Silva-Smith, Rachel R; Huang, Marilyn M; Parekh, Dipen J DJ; Sussman, Daniel D; Tekin, Mustafa M

Publication Date: 2023

Variant appearance in text: ATM: 6679C>T; Arg2227Cys

PubMed Link: 36865800

Variant Present in the following documents:

• Main text
• DataSheet_1.pdf
• fonc-13-1068110.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ATM: 6679C>T; Arg2227Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: R2227C; rs564652222

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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Metastatic colorectal cancer treatment response evaluation by ultra-deep sequencing of cell-free DNA and matched white blood cells.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

van 't Erve, Iris I; Medina, Jamie E JE; Leal, Alessandro A; Papp, Eniko E; Phallen, Jillian J; Adleff, Vilmos V; Chiao, Elaine Jiayuee EJ; Arun, Adith S AS; Bolhuis, Karen K; Simmons, John K JK; Karandikar, Aanavi A; Valkenburg, Kenneth C KC; Sausen, Mark M; Angiuoli, Samuel V SV; Scharpf, Robert B RB; Punt, Cornelis J A CJA; Meijer, Gerrit A GA; Velculescu, Victor E VE; Fijneman, Remond J A RJA

Publication Date: 2022-12-19

Variant appearance in text: ATM: R2227C

PubMed Link: 36534496

Variant Present in the following documents:

• ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx, sheet 13

View BVdb publication page

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Isolation and characterization of two newly established thymoma PDXs from two relapses of the same patient: a new tool to investigate thymic malignancies.

Journal Of Experimental & Clinical Cancer Research : Cr

Mendogni, Paolo P; Affatato, Roberta R; Cabri, Enrico E; Chiappa, Michela M; Ndembe, Gloriana G; Tosi, Davide D; Del Gobbo, Alessandro A; Fratelli, Maddalena M; Pardini, Eleonora E; Petrini, Iacopo I; Rosso, Lorenzo L; Broggini, Massimo M; Marabese, Mirko M

Publication Date: 2022-12-14

Variant appearance in text: ATM: R2227C

PubMed Link: 36517829

Variant Present in the following documents:

• 13046_2022_2554_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: ATM: R2227C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.

Frontiers In Oncology

Paixão, Daniele D; Torrezan, Giovana Tardin GT; Santiago, Karina Miranda KM; Formiga, Maria Nirvana MN; Ahuno, Samuel Terkper ST; Dias-Neto, Emmanuel E; Tojal da Silva, Israel I; Foulkes, William D WD; Polak, Paz P; Carraro, Dirce Maria DM

Publication Date: 2022

Variant appearance in text: ATM: 6679C>T; Arg2227Cys; rs564652222

PubMed Link: 36119527

Variant Present in the following documents:

• Main text
• fonc-12-976959.pdf

View BVdb publication page

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Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Haberecker, Martina M; Bühler, Marco Matteo MM; Mendieta, Alicia Pliego AP; Guggenberger, Roman R; Arnold, Fabian F; Markert, Eva E; Rechsteiner, Markus M; Zoche, Martin M; Britschgi, Christian C; Pauli, Chantal C

Publication Date: 2022-12

Variant appearance in text: ATM: R2227C

PubMed Link: 35864317

Variant Present in the following documents:

• 41379_2022_1133_MOESM1_ESM.pdf

View BVdb publication page

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Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.

Annals Of Translational Medicine

Mou, Jiang-Tao JT; Huang, Shi-Xing SX; Yu, Li-Li LL; Xu, Jing J; Deng, Qiao-Ling QL; Xie, Yi-Shan YS; Deng, Kun K

Publication Date: 2022-05

Variant appearance in text: ATM: 6679C>T; R2227C

PubMed Link: 35722368

Variant Present in the following documents:

• Main text
• atm-10-10-603.pdf

View BVdb publication page

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: ATM: R2227C

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders.

Cancers

Pastorczak, Agata A; Attarbaschi, Andishe A; Bomken, Simon S; Borkhardt, Arndt A; van der Werff Ten Bosch, Jutte J; Elitzur, Sarah S; Gennery, Andrew R AR; Hlavackova, Eva E; Kerekes, Arpád A; Křenová, Zdenka Z; Mlynarski, Wojciech W; Szczepanski, Tomasz T; Wassenberg, Tessa T; Loeffen, Jan J

Publication Date: 2022-04-14

Variant appearance in text: ATM: 6679C>T

PubMed Link: 35454905

Variant Present in the following documents:

• Main text
• cancers-14-02000.pdf

View BVdb publication page

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Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13-15, 2021.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: ATM: R2227C

PubMed Link: 35366121

Variant Present in the following documents:

• Main text
• 10689_2021_Article_284.pdf

View BVdb publication page

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Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine

Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J

Publication Date: 2022-04

Variant appearance in text: ATM: 6679C>T; Arg2227Cys; rs564652222

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.

Journal Of Clinical Immunology

Cirillo, Emilia E; Polizzi, Agata A; Soresina, Annarosa A; Prencipe, Rosaria R; Giardino, Giuliana G; Cancrini, Caterina C; Finocchi, Andrea A; Rivalta, Beatrice B; Dellepiane, Rosa M RM; Baselli, Lucia A LA; Montin, Davide D; Trizzino, Antonino A; Consolini, Rita R; Azzari, Chiara C; Ricci, Silvia S; Lodi, Lorenzo L; Quinti, Isabella I; Milito, Cinzia C; Leonardi, Lucia L; Duse, Marzia M; Carrabba, Maria M; Fabio, Giovanna G; Bertolini, Patrizia P; Coccia, Paola P; D'Alba, Irene I; Pession, Andrea A; Conti, Francesca F; Zecca, Marco M; Lunardi, Claudio C; Bianco, Manuela Lo ML; Presti, Santiago S; Sciuto, Laura L; Micheli, Roberto R; Bruzzese, Dario D; Lougaris, Vassilios V; Badolato, Raffaele R; Plebani, Alessandro A; Chessa, Luciana L; Pignata, Claudio C

Publication Date: 2022-05

Variant appearance in text: ATM: 6679C>T

PubMed Link: 35257272

Variant Present in the following documents:

• 10875_2022_Article_1234.pdf

View BVdb publication page

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Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology

Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H

Publication Date: 2021

Variant appearance in text: ATM: 6679C>T; Arg2227Cys

PubMed Link: 35095854

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: ATM: R2227C

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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: 6679C>T; R2227C

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

European Journal Of Human Genetics : Ejhg

Luo, Hui H; Liu, Dan D; Liu, Wenbing W; Wang, Gaoxiang G; Chen, Liting L; Cao, Yang Y; Wei, Jia J; Xiao, Min M; Liu, Xin X; Huang, Gang G; Wang, Wei W; Zhou, Jianfeng J; Wang, Qian-Fei QF

Publication Date: 2021-08

Variant appearance in text: ATM: 6679C>T; Arg2227Cys; rs564652222

PubMed Link: 33867526

Variant Present in the following documents:

• 41431_2021_886_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: ATM: 6679C>T; R2227C

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM9_ESM.xlsx, sheet 1

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: 6679C>T; R2227C

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: 6679C>T; R2227C

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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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: R2227C

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.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: R2227C

PubMed Link: 33054084

Variant Present in the following documents:

• 2019.229161.TAUSCH_SUPPL.pdf

View BVdb publication page

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Prioritization of Therapy Options for a Patient With High Tumor Mutation Burden and Microsatellite Instability but No Clinical Benefit From Immunotherapy.

Jco Precision Oncology

Nelson, Ryan S RS; Mehta, Rutika J RJ; McLeod, Howard L HL; Walko, Christine M CM

Publication Date: 2019

Variant appearance in text: ATM: R2227C

PubMed Link: 32923851

Variant Present in the following documents:

• Main text

View BVdb publication page

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Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Frontiers In Immunology

Strand, Janne J; Gul, Kiran Aftab KA; Erichsen, Hans Christian HC; Lundman, Emma E; Berge, Mona C MC; Trømborg, Anette K AK; Sørgjerd, Linda K LK; Ytre-Arne, Mari M; Hogner, Silje S; Halsne, Ruth R; Gaup, Hege Junita HJ; Osnes, Liv T LT; Kro, Grete A B GAB; Sorte, Hanne S HS; Mørkrid, Lars L; Rowe, Alexander D AD; Tangeraas, Trine T; Jørgensen, Jens V JV; Alme, Charlotte C; Bjørndalen, Trude E H TEH; Rønnestad, Arild E AE; Lang, Astri M AM; Rootwelt, Terje T; Buechner, Jochen J; Øverland, Torstein T; Abrahamsen, Tore G TG; Pettersen, Rolf D RD; Stray-Pedersen, Asbjørg A

Publication Date: 2020

Variant appearance in text: ATM: Arg2227Cys

PubMed Link: 32754152

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences

Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR

Publication Date: 2020-07-16

Variant appearance in text: ATM: 6679C>T

PubMed Link: 32708810

Variant Present in the following documents:

• ijms-21-05036-s001.pdf

View BVdb publication page

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Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report.

World Journal Of Clinical Cases

Li, Xiao-Ling XL; Wang, Yi-Lin YL

Publication Date: 2020-06-06

Variant appearance in text: ATM: 6679C>T

PubMed Link: 32548172

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: ATM: 6679C>T; R2227C

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.

Frontiers In Immunology

Mandola, Amarilla B AB; Reid, Brenda B; Sirror, Raga R; Brager, Rae R; Dent, Peter P; Chakroborty, Pranesh P; Bulman, Dennis E DE; Roifman, Chaim M CM

Publication Date: 2019

Variant appearance in text: ATM: 6679C>T; Arg2227Cys

PubMed Link: 31921190

Variant Present in the following documents:

• Main text
• fimmu-10-02940.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: Arg2227Cys

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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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: 6679C>T; R2227C

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: ATM: 6679C>T; Arg2227Cys; rs564652222

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ATM: 6679C>T; Arg2227Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ATM: R2227C

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: ATM: 6679C>T; R2227C; rs564652222

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

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: 6679C>T; Arg2227Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: ATM: 6679C>T; R2227C

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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: 6679C>T; Arg2227Cys

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: ATM: 6679C>T; Arg2227Cys

PubMed Link: 26681312

Variant Present in the following documents:

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: R2227C

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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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: ATM: R2227C

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Neuromolecular Medicine

Huang, Yu Y; Yang, Lu L; Wang, Jianchun J; Yang, Fan F; Xiao, Ying Y; Xia, Rongjun R; Yuan, Xianhou X; Yan, Mingshan M

Publication Date: 2013-09

Variant appearance in text: ATM: 6679C>T

PubMed Link: 23807571

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn screening for SCID identifies patients with ataxia telangiectasia.

Journal Of Clinical Immunology

Mallott, Jacob J; Kwan, Antonia A; Church, Joseph J; Gonzalez-Espinosa, Diana D; Lorey, Fred F; Tang, Ling Fung LF; Sunderam, Uma U; Rana, Sadhna S; Srinivasan, Rajgopal R; Brenner, Steven E SE; Puck, Jennifer J

Publication Date: 2013-04

Variant appearance in text: ATM: R2227C

PubMed Link: 23264026

Variant Present in the following documents:

• Main text
• 10875_2012_Article_9846.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: 6679C>T; Arg2227Cys

PubMed Link: 21792198

Variant Present in the following documents:

View BVdb publication page

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Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Human Mutation

Mitui, M M; Nahas, S A SA; Du, L T LT; Yang, Z Z; Lai, C H CH; Nakamura, K K; Arroyo, S S; Scott, S S; Purayidom, A A; Concannon, P P; Lavin, M M; Gatti, R A RA

Publication Date: 2009-01

Variant appearance in text: ATM: 6679C>T; R2227C

PubMed Link: 18634022

Variant Present in the following documents:

• Main text

View BVdb publication page

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