Publications:

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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: 8264_8268del

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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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.

Breast Cancer Research : Bcr

Renault, Anne-Laure AL; Dowty, James G JG; Steen, Jason A JA; Li, Shuai S; Winship, Ingrid M IM; Giles, Graham G GG; Hopper, John L JL; Southey, Melissa C MC; Nguyen-Dumont, Tú T

Publication Date: 2022-04-01

Variant appearance in text: ATM: 8264_8268delATAAG; Tyr2755Cysfs*12

PubMed Link: 35365198

Variant Present in the following documents:

• Main text
• 13058_2022_Article_1518.pdf

View BVdb publication page

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Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

Breast Cancer Research And Treatment

Felix, Gabriela E S GES; Guindalini, Rodrigo Santa Cruz RSC; Zheng, Yonglan Y; Walsh, Tom T; Sveen, Elisabeth E; Lopes, Taisa Manuela Machado TMM; Côrtes, Juliana J; Zhang, Jing J; Carôzo, Polyanna P; Santos, Irlânia I; Bonfim, Thaís Ferreira TF; Garicochea, Bernardo B; Toralles, Maria Betânia Pereira MBP; Meyer, Roberto R; Netto, Eduardo Martins EM; Abe-Sandes, Kiyoko K; King, Mary-Claire MC; de Oliveira Nascimento, Ivana Lucia IL; Olopade, Olufunmilayo I OI

Publication Date: 2022-06

Variant appearance in text: ATM: 8264_8268delATAAG

PubMed Link: 35353237

Variant Present in the following documents:

• Main text
• 10549_2022_Article_6560.pdf

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: 8264_8268delATAAG; Tyr2755fs

PubMed Link: 35264596

Variant Present in the following documents:

• Main text
• 41598_2022_7383_MOESM2_ESM.xlsx, sheet 1
• 41598_2022_Article_7383.pdf

View BVdb publication page

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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

Frontiers In Immunology

Blanchard-Rohner, Geraldine G; Peirolo, Anna A; Coulon, Ludivine L; Korff, Christian C; Horvath, Judit J; Burkhard, Pierre R PR; Gumy-Pause, Fabienne F; Ranza, Emmanuelle E; Jandus, Peter P; Dibra, Harpreet H; Taylor, Alexander Malcolm R AMR; Fluss, Joel J

Publication Date: 2022

Variant appearance in text: ATM: 8264_8268delATAAG

PubMed Link: 35154108

Variant Present in the following documents:

• Main text
• fimmu-13-791522.pdf

View BVdb publication page

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer

Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T

Publication Date: 2021-12-09

Variant appearance in text: ATM: 8264_8268del; Tyr2755Cysfs*12

PubMed Link: 34887416

Variant Present in the following documents:

• 41523_2021_360_MOESM1_ESM.pdf

View BVdb publication page

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer

Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T

Publication Date: 2021-12-09

Variant appearance in text: ATM: 8264_8268del; Tyr2755Cysfs*12

PubMed Link: 34887416

Variant Present in the following documents:

• 41523_2021_360_MOESM1_ESM.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: 8264_8268delATAAG; Y2755fs; rs730881294

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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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: 8264_8268del

PubMed Link: 33436325

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Hereditary Cancer In Clinical Practice

Gardner, Sabrina A SA; Weymouth, Katelyn S KS; Kelly, Wei S WS; Bogdanova, Ekaterina E; Chen, Wenjie W; Lupu, Daniel D; Suhl, Joshua J; Zeng, Qiandong Q; Geigenmüller, Ute U; Boles, Debbie D; Okamoto, Patricia M PM; McDowell, Geraldine G; Hayden, Melissa A MA; Nagan, Narasimhan N

Publication Date: 2018

Variant appearance in text: ATM: 8264_8268delATAAG

PubMed Link: 29308099

Variant Present in the following documents:

• 13053_2017_83_MOESM1_ESM.xlsx, sheet 1

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: 8264_8268delATAAG; Tyr2755Cysfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Oncotarget

Eliade, Marie M; Skrzypski, Jeremy J; Baurand, Amandine A; Jacquot, Caroline C; Bertolone, Geoffrey G; Loustalot, Catherine C; Coutant, Charles C; Guy, France F; Fumoleau, Pierre P; Duffourd, Yannis Y; Arnould, Laurent L; Delignette, Alexandra A; Padéano, Marie-Martine MM; Lepage, Côme C; Raichon-Patru, Géraldine G; Boudrant, Axelle A; Bône-Lépinoy, Marie-Christine MC; Villing, Anne-Laure AL; Charpin, Aurélie A; Peignaux, Karine K; Chevrier, Sandy S; Vegran, Frédérique F; Ghiringhelli, François F; Boidot, Romain R; Sevenet, Nicolas N; Lizard, Sarab S; Faivre, Laurence L

Publication Date: 2017-01-10

Variant appearance in text: ATM: 8264_8268del; Tyr2755CysfsX12

PubMed Link: 27779110

Variant Present in the following documents:

• Main text

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: 8264_8268delATAAG

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: 8264_8268delATAAG; Tyr2755CysfsX12

PubMed Link: 26681312

Variant Present in the following documents:

View BVdb publication page

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Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

Breast Cancer Research And Treatment

Ellingson, Marissa S MS; Hart, Steven N SN; Kalari, Krishna R KR; Suman, Vera V; Schahl, Kimberly A KA; Dockter, Travis J TJ; Felten, Sara J SJ; Sinnwell, Jason P JP; Thompson, Kevin J KJ; Tang, Xiaojia X; Vedell, Peter T PT; Barman, Poulami P; Sicotte, Hugues H; Eckel-Passow, Jeanette E JE; Northfelt, Donald W DW; Gray, Richard J RJ; McLaughlin, Sarah A SA; Moreno-Aspitia, Alvaro A; Ingle, James N JN; Moyer, Ann M AM; Visscher, Daniel W DW; Jones, Katie K; Conners, Amy A; McDonough, Michelle M; Wieben, Eric D ED; Wang, Liewei L; Weinshilboum, Richard R; Boughey, Judy C JC; Goetz, Matthew P MP

Publication Date: 2015-09

Variant appearance in text: ATM: 8264_8268delATAAG; Y2755CfsX12

PubMed Link: 26296701

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myoclonus in ataxia-telangiectasia.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Termsarasab, Pichet P; Yang, Amy C AC; Frucht, Steven J SJ

Publication Date: 2015

Variant appearance in text: ATM: 8264_8268del; Y2755Cfs*12

PubMed Link: 25793145

Variant Present in the following documents:

• Main text
• tre-05-298-6601-1.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: 8264_8268delATAAG

PubMed Link: 21792198

Variant Present in the following documents:

View BVdb publication page

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