Publications:

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The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.

Journal Of Translational Medicine

Díaz de Ståhl, Teresita T; Shamikh, Alia A; Mayrhofer, Markus M; Juhos, Szilvester S; Basmaci, Elisa E; Prochazka, Gabriela G; Garcia, Maxime M; Somarajan, Praveen Raj PR; Zielinska-Chomej, Katarzyna K; Illies, Christopher C; Øra, Ingrid I; Siesjö, Peter P; Sandström, Per-Erik PE; Stenman, Jakob J; Sabel, Magnus M; Gustavsson, Bengt B; Kogner, Per P; Pfeifer, Susan S; Ljungman, Gustaf G; Sandgren, Johanna J; Nistér, Monica M

Publication Date: 2023-05-23

Variant appearance in text: ATM: Lys1192Lys

PubMed Link: 37221626

Variant Present in the following documents:

• 12967_2023_4178_MOESM2_ESM.xlsx, sheet 1

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: 3576G>A

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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Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma.

International Journal Of Molecular Sciences

Pastorino, Lorenza L; Dalmasso, Bruna B; Allavena, Eleonora E; Vanni, Irene I; Ugolini, Filippo F; Baroni, Gianna G; Croce, Michela M; Guadagno, Antonio A; Cabiddu, Francesco F; Andreotti, Virginia V; Bruno, William W; Zoppoli, Gabriele G; Ferrando, Lorenzo L; Tanda, Enrica Teresa ET; Spagnolo, Francesco F; Menin, Chiara C; Gangemi, Rosaria R; Massi, Daniela D; Ghiorzo, Paola P

Publication Date: 2022-12-16

Variant appearance in text: ATM: 3576G>A

PubMed Link: 36555667

Variant Present in the following documents:

• ijms-23-16027.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: ATM: 3576G>A; Lys1192=; rs587776551

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS4.xlsx, sheet 1
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 2

View BVdb publication page

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Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.

Nature Communications

Kohaar, Indu I; Zhang, Xijun X; Tan, Shyh-Han SH; Nousome, Darryl D; Babcock, Kevin K; Ravindranath, Lakshmi L; Sukumar, Gauthaman G; Mcgrath-Martinez, Elisa E; Rosenberger, John J; Alba, Camille C; Ali, Amina A; Young, Denise D; Chen, Yongmei Y; Cullen, Jennifer J; Rosner, Inger L IL; Sesterhenn, Isabell A IA; Dobi, Albert A; Chesnut, Gregory G; Turner, Clesson C; Dalgard, Clifton C; Wilkerson, Matthew D MD; Pollard, Harvey B HB; Srivastava, Shiv S; Petrovics, Gyorgy G

Publication Date: 2022-03-15

Variant appearance in text: ATM: K1192K

PubMed Link: 35292633

Variant Present in the following documents:

• 41467_2022_28945_MOESM6_ESM.xls, sheet 1
• 41467_2022_28945_MOESM5_ESM.xls, sheet 1

View BVdb publication page

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The natural history of ataxia-telangiectasia (A-T): A systematic review.

Plos One

Petley, Emily E; Yule, Alexander A; Alexander, Shaun S; Ojha, Shalini S; Whitehouse, William P WP

Publication Date: 2022

Variant appearance in text: ATM: 3576G>A

PubMed Link: 35290391

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: ATM: 3576G>A; Lys1192Lys

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM2_ESM.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: 3576G>A

PubMed Link: 35260754

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8019.pdf

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: 3576G>A

PubMed Link: 35257272

Variant Present in the following documents:

• 10875_2022_Article_1234.pdf

View BVdb publication page

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Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.

Frontiers In Genetics

Maroilley, Tatiana T; Wright, Nicola A M NAM; Diao, Catherine C; MacLaren, Linda L; Pfeffer, Gerald G; Sarna, Justyna R JR; Billie Au, Ping Yee PY; Tarailo-Graovac, Maja M

Publication Date: 2022

Variant appearance in text: ATM: 3576G>A

PubMed Link: 35145552

Variant Present in the following documents:

• Main text
• fgene-13-815210.pdf

View BVdb publication page

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg

McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER

Publication Date: 2022-03

Variant appearance in text: ATM: 3576G>A; Lys1192=

PubMed Link: 34983940

Variant Present in the following documents:

• 41431_2021_1013_MOESM1_ESM.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: 3576G>A

PubMed Link: 34771661

Variant Present in the following documents:

• Main text
• cancers-13-05498.pdf

View BVdb publication page

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Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.

Journal Of Clinical Immunology

Zielen, Stefan S; Duecker, Ruth Pia RP; Woelke, Sandra S; Donath, Helena H; Bakhtiar, Sharhzad S; Buecker, Aileen A; Kreyenberg, Hermann H; Huenecke, Sabine S; Bader, Peter P; Mahlaoui, Nizar N; Ehl, Stephan S; El-Helou, Sabine M SM; Pietrucha, Barbara B; Plebani, Alessandro A; van der Flier, Michiel M; van Aerde, Koen K; Kilic, Sara S SS; Reda, Shereen M SM; Kostyuchenko, Larysa L; McDermott, Elizabeth E; Galal, Nermeen N; Pignata, Claudio C; Pérez, Juan Luis Santos JLS; Laws, Hans-Juergen HJ; Niehues, Tim T; Kutukculer, Necil N; Seidel, Markus G MG; Marques, Laura L; Ciznar, Peter P; Edgar, John David M JDM; Soler-Palacín, Pere P; von Bernuth, Horst H; Krueger, Renate R; Meyts, Isabelle I; Baumann, Ulrich U; Kanariou, Maria M; Grimbacher, Bodo B; Hauck, Fabian F; Graf, Dagmar D; Granado, Luis Ignacio Gonzalez LIG; Prader, Seraina S; Reisli, Ismail I; Slatter, Mary M; Rodríguez-Gallego, Carlos C; Arkwright, Peter D PD; Bethune, Claire C; Deripapa, Elena E; Sharapova, Svetlana O SO; Lehmberg, Kai K; Davies, E Graham EG; Schuetz, Catharina C; Kindle, Gerhard G; Schubert, Ralf R

Publication Date: 2021-11

Variant appearance in text: ATM: 3576G>A

PubMed Link: 34477998

Variant Present in the following documents:

• 10875_2021_Article_1090.pdf

View BVdb publication page

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Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

Bmc Medical Genomics

Lee, Hoo Young HY; Jang, Dae-Hyun DH; Kim, Jae-Won JW; Lee, Dong-Woo DW; Jang, Ja-Hyun JH; Joo, Joungsu J

Publication Date: 2021-08-17

Variant appearance in text: ATM: 3576G>A

PubMed Link: 34404412

Variant Present in the following documents:

• 12920_2021_Article_1053.pdf

View BVdb publication page

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Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

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

Dalmasso, B B; Pastorino, L L; Nathan, V V; Shah, N N NN; Palmer, J M JM; Howlie, M M; Johansson, P A PA; Freedman, N D ND; Carter, B D BD; Beane-Freeman, L L; Hicks, B B; Molven, A A; Helgadottir, H H; Sankar, A A; Tsao, H H; Stratigos, A J AJ; Helsing, P P; Van Doorn, R R; Gruis, N A NA; Visser, M M; Wadt, K A W KAW; Mann, G G; Holland, E A EA; Nagore, E E; Potrony, M M; Puig, S S; Menin, C C; Peris, K K; Fargnoli, M C MC; Calista, D D; Soufir, N N; Harland, M M; Bishop, T T; Kanetsky, P A PA; Elder, D E DE; Andreotti, V V; Vanni, I I; Bruno, W W; Höiom, V V; Tucker, M A MA; Yang, X R XR; Andresen, P A PA; Adams, D J DJ; Landi, M T MT; Hayward, N K NK; Goldstein, A M AM; Ghiorzo, P P; , ; ,

Publication Date: 2021-11

Variant appearance in text: ATM: 3576G>A; rs587776551

PubMed Link: 34262154

Variant Present in the following documents:

• Main text
• 41436_2021_Article_1240.pdf
• 41436_2021_1240_MOESM3_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: rs587776551

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4

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: 3576G>A; K1192K

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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Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.

Familial Cancer

Schwermer, Miriam M; Behnert, Astrid A; Dörgeloh, Beate B; Ripperger, Tim T; Kratz, Christian P CP

Publication Date: 2021-10

Variant appearance in text: ATM: 3576G>A

PubMed Link: 33651299

Variant Present in the following documents:

• 10689_2021_Article_233.pdf

View BVdb publication page

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Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.

Familial Cancer

Schwermer, Miriam M; Behnert, Astrid A; Dörgeloh, Beate B; Ripperger, Tim T; Kratz, Christian P CP

Publication Date: 2021-10

Variant appearance in text: ATM: 3576G>A

PubMed Link: 33651299

Variant Present in the following documents:

• 10689_2021_Article_233.pdf

View BVdb publication page

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In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

Scientific Reports

Pozzi, Elisa E; Giorgio, Elisa E; Mancini, Cecilia C; Lo Buono, Nicola N; Augeri, Stefania S; Ferrero, Marta M; Di Gregorio, Eleonora E; Riberi, Evelise E; Vinciguerra, Maria M; Nanetti, Lorenzo L; Bianchi, Federico Tommaso FT; Sassi, Maria Paola MP; Costanzo, Vincenzo V; Mariotti, Caterina C; Funaro, Ada A; Cavalieri, Simona S; Brusco, Alfredo A

Publication Date: 2020-11-19

Variant appearance in text: ATM: 3576G>A

PubMed Link: 33214630

Variant Present in the following documents:

• 41598_2020_77352_MOESM1_ESM.pdf

View BVdb publication page

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Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Journal Of Clinical Medicine

Germani, Aldo A; Petrucci, Simona S; De Marchis, Laura L; Libi, Fabio F; Savio, Camilla C; Amanti, Claudio C; Bonifacino, Adriana A; Campanella, Barbara B; Capalbo, Carlo C; Lombardi, Augusto A; Maggi, Stefano S; Mattei, Mauro M; Osti, Mattia Falchetto MF; Pellegrini, Patrizia P; Speranza, Annarita A; Stanzani, Gianluca G; Vitale, Valeria V; Pizzuti, Antonio A; Torrisi, Maria Rosaria MR; Piane, Maria M

Publication Date: 2020-09-17

Variant appearance in text: ATM: 3576G>A; Lys1192=; rs587776551

PubMed Link: 32957588

Variant Present in the following documents:

• Main text
• jcm-09-03003.pdf

View BVdb publication page

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Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Esai Selvan, Myvizhi M; Zauderer, Marjorie G MG; Rudin, Charles M CM; Jones, Siân S; Mukherjee, Semanti S; Offit, Kenneth K; Onel, Kenan K; Rennert, Gad G; Velculescu, Victor E VE; Lipkin, Steven M SM; Klein, Robert J RJ; Gümüş, Zeynep H ZH

Publication Date: 2020-12

Variant appearance in text: ATM: Lys1192=; rs587776551

PubMed Link: 32866655

Variant Present in the following documents:

• Main text

View BVdb publication page

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Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Molecular Genetics & Genomic Medicine

Asadollahi, Reza R; Britschgi, Christian C; Joset, Pascal P; Oneda, Beatrice B; Schindler, Detlev D; Meier, Urs R UR; Rauch, Anita A

Publication Date: 2020-10

Variant appearance in text: ATM: 3576G>A

PubMed Link: 32748564

Variant Present in the following documents:

• Main text
• MGG3-8-e1409.pdf

View BVdb publication page

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Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing.

Current Genomics

Heidari, Masoud M; Soleyman-Nejad, Morteza M; Taskhiri, Mohammad H MH; Shahpouri, Javad J; Isazadeh, Alireza A; Ahangari, Roghayyeh R; Mohamadi, Ali R AR; Ebrahimi, Masoumeh M; Karimi, Hadi H; Bolhassani, Manzar M; Karimi, Zahra Z; Heidari, Mansour M

Publication Date: 2019-11

Variant appearance in text: ATM: 3576G>A

PubMed Link: 32655291

Variant Present in the following documents:

• CG-20-531.pdf

View BVdb publication page

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Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Cancers

Pastorino, Lorenza L; Andreotti, Virginia V; Dalmasso, Bruna B; Vanni, Irene I; Ciccarese, Giulia G; Mandalà, Mario M; Spadola, Giuseppe G; Pizzichetta, Maria Antonietta MA; Ponti, Giovanni G; Tibiletti, Maria Grazia MG; Sala, Elena E; Genuardi, Maurizio M; Chiurazzi, Pietro P; Maccanti, Gabriele G; Manoukian, Siranoush S; Sestini, Serena S; Danesi, Rita R; Zampiga, Valentina V; La Starza, Roberta R; Stanganelli, Ignazio I; Ballestrero, Alberto A; Mastracci, Luca L; Grillo, Federica F; Sciallero, Stefania S; Cecchi, Federica F; Tanda, Enrica Teresa ET; Spagnolo, Francesco F; Queirolo, Paola P; Italian Melanoma Intergroup (IMI), ; Goldstein, Alisa M AM; Bruno, William W; Ghiorzo, Paola P

Publication Date: 2020-04-19

Variant appearance in text: ATM: 3576G>A; rs587776551

PubMed Link: 32325837

Variant Present in the following documents:

• Main text
• cancers-12-01007.pdf

View BVdb publication page

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Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Molecular Genetics & Genomic Medicine

Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L

Publication Date: 2020-02

Variant appearance in text: ATM: 3576G>A; K1192=

PubMed Link: 31880409

Variant Present in the following documents:

• MGG3-8-e1053-s001.xlsx, sheet 1
• MGG3-8-e1053-s002.xlsx, sheet 1

View BVdb publication page

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Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

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

Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G

Publication Date: 2020-04

Variant appearance in text: ATM: 3576G>A

PubMed Link: 31844177

Variant Present in the following documents:

• 41436_2019_720_MOESM4_ESM.xlsx, sheet 2
• 41436_2019_720_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Classic ataxia-telangiectasia: the phenotype of long-term survivors.

Journal Of Neurology

van Os, Nienke J H NJH; van Deuren, Marcel M; Weemaes, Corry M R CMR; van Gaalen, Judith J; Hijdra, Helma H; Taylor, Alexander M R AMR; van de Warrenburg, Bart P C BPC; Willemsen, Michèl A A P MAAP

Publication Date: 2020-03

Variant appearance in text: ATM: 3576G>A

PubMed Link: 31776720

Variant Present in the following documents:

• 415_2019_Article_9641.pdf

View BVdb publication page

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One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Journal Of Medical Genetics

Fostira, Florentia F; Kostantopoulou, Irene I; Apostolou, Paraskevi P; Papamentzelopoulou, Myrto S MS; Papadimitriou, Christos C; Faliakou, Eleni E; Christodoulou, Christos C; Boukovinas, Ioannis I; Razis, Evangelia E; Tryfonopoulos, Dimitrios D; Barbounis, Vasileios V; Vagena, Andromache A; Vlachos, Ioannis S IS; Kalfakakou, Despoina D; Fountzilas, George G; Yannoukakos, Drakoulis D

Publication Date: 2020-01

Variant appearance in text: ATM: 3576G>A

PubMed Link: 31300551

Variant Present in the following documents:

• jmedgenet-2019-106189supp005.pdf
• jmedgenet-2019-106189supp002.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ATM: 3576G>A; K1192K

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Ampullary cancer: Evaluation of somatic and germline genetic alterations and association with clinical outcomes.

Cancer

Wong, Winston W; Lowery, Maeve A MA; Berger, Michael F MF; Kemel, Yelena Y; Taylor, Barry B; Zehir, Ahmet A; Srinivasan, Preethi P; Bandlamudi, Chaitanya C; Chou, Joanne J; Capanu, Marinela M; Varghese, Anna A; Yu, Kenneth H KH; Iacobuzio-Donahue, Christine A CA; Shia, Jinru J; Klimstra, David S DS; Jarnagin, William R WR; Stadler, Zsofia K ZK; O'Reilly, Eileen M EM

Publication Date: 2019-05-01

Variant appearance in text: ATM: 3576G>A; Lys1192Lys

PubMed Link: 30620386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Breast Cancer Research : Bcr

Renault, Anne-Laure AL; Mebirouk, Noura N; Fuhrmann, Laetitia L; Bataillon, Guillaume G; Cavaciuti, Eve E; Le Gal, Dorothée D; Girard, Elodie E; Popova, Tatiana T; La Rosa, Philippe P; Beauvallet, Juana J; Eon-Marchais, Séverine S; Dondon, Marie-Gabrielle MG; d'Enghien, Catherine Dubois CD; Laugé, Anthony A; Chemlali, Walid W; Raynal, Virginie V; Labbé, Martine M; Bièche, Ivan I; Baulande, Sylvain S; Bay, Jacques-Olivier JO; Berthet, Pascaline P; Caron, Olivier O; Buecher, Bruno B; Faivre, Laurence L; Fresnay, Marc M; Gauthier-Villars, Marion M; Gesta, Paul P; Janin, Nicolas N; Lejeune, Sophie S; Maugard, Christine C; Moutton, Sébastien S; Venat-Bouvet, Laurence L; Zattara, Hélène H; Fricker, Jean-Pierre JP; Gladieff, Laurence L; Coupier, Isabelle I; , ; , ; , ; Chenevix-Trench, Georgia G; Hall, Janet J; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F

Publication Date: 2018-04-17

Variant appearance in text: ATM: 3576G>A

PubMed Link: 29665859

Variant Present in the following documents:

• Main text
• 13058_2018_Article_951.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: 3576G>A; Lys1192=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

Prodosmo, Andrea A; Buffone, Amelia A; Mattioni, Manlio M; Barnabei, Agnese A; Persichetti, Agnese A; De Leo, Aurora A; Appetecchia, Marialuisa M; Nicolussi, Arianna A; Coppa, Anna A; Sciacchitano, Salvatore S; Giordano, Carolina C; Pinnarò, Paola P; Sanguineti, Giuseppe G; Strigari, Lidia L; Alessandrini, Gabriele G; Facciolo, Francesco F; Cosimelli, Maurizio M; Grazi, Gian Luca GL; Corrado, Giacomo G; Vizza, Enrico E; Giannini, Giuseppe G; Soddu, Silvia S

Publication Date: 2016-09-06

Variant appearance in text: ATM: 3576G>A

PubMed Link: 27599564

Variant Present in the following documents:

• Main text
• 13046_2016_Article_410.pdf

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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: 3576G>A

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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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: 3576G>A

PubMed Link: 21792198

Variant Present in the following documents:

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DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Disease Markers

Magliozzi, Monia M; Piane, Maria M; Torrente, Isabella I; Sinibaldi, Lorenzo L; Rizzo, Giovanni G; Savio, Camilla C; Lulli, Patrizia P; De Luca, Alessandro A; Dallapiccola, Bruno B; Chessa, Luciana L

Publication Date: 2006

Variant appearance in text: ATM: K1192K

PubMed Link: 17124347

Variant Present in the following documents:

• DM22-04-740493.pdf

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