Publications:

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BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors.

Cancer Research

Petrelli, Annalisa A; Rizzolio, Sabrina S; Pietrantonio, Filippo F; Bellomo, Sara E SE; Benelli, Matteo M; De Cecco, Loris L; Romagnoli, Dario D; Berrino, Enrico E; Orrù, Claudia C; Ribisi, Salvatore S; Moya-Rull, Daniel D; Migliore, Cristina C; Conticelli, Daniela D; Maina, Irene M IM; Puliga, Elisabetta E; Serra, Violeta V; Pellegrino, Benedetta B; Llop-Guevara, Alba A; Musolino, Antonino A; Siena, Salvatore S; Sartore-Bianchi, Andrea A; Prisciandaro, Michele M; Morano, Federica F; Antista, Maria M; Fumagalli, Uberto U; De Manzoni, Giovanni G; Degiuli, Maurizio M; Baiocchi, Gian Luca GL; Amisano, Marco F MF; Ferrero, Alessandro A; Marchiò, Caterina C; Corso, Simona S; Giordano, Silvia S

Publication Date: 2023-05-02

Variant appearance in text: ATM: Q654K

PubMed Link: 37129948

Variant Present in the following documents:

• can-22-2620_supplementary_table_s2_suppst2.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ATM: Q654K; rs528165789

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.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: 1960C>A; Q654K; rs528165789

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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Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Scientific Reports

Pedrosa, Lucía L; Fernández-Miranda, Ismael I; Pérez-Callejo, David D; Quero, Cristina C; Rodríguez, Marta M; Martín-Acosta, Paloma P; Gómez, Sagrario S; González-Rincón, Julia J; Santos, Adrián A; Tarin, Carlos C; García, Juan F JF; García-Arroyo, Francisco R FR; Rueda, Antonio A; Camacho, Francisca I FI; García-Cosío, Mónica M; Heredero, Ana A; Llanos, Marta M; Mollejo, Manuela M; Piris-Villaespesa, Miguel M; Gómez-Codina, José J; Yanguas-Casás, Natalia N; Sánchez, Antonio A; Piris, Miguel A MA; Provencio, Mariano M; Sánchez-Beato, Margarita M

Publication Date: 2021-01-21

Variant appearance in text: ATM: Q654K

PubMed Link: 33479306

Variant Present in the following documents:

• 41598_2020_80376_MOESM1_ESM.xlsx, sheet 3

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: 1960C>A; Gln654Lys; rs528165789

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: 1960C>A; Gln654Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE

Publication Date: 2016-05-01

Variant appearance in text: ATM: 1960C>A; Gln654Lys

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

Frontiers In Oncology

Petereit, Daniel G DG; Hahn, L Jennifer LJ; Kanekar, Shalini S; Boylan, Amy A; Bentzen, Søren M SM; Ritter, Mark M; Moser, Amy R AR

Publication Date: 2013

Variant appearance in text: ATM: Gln654Lys

PubMed Link: 24416720

Variant Present in the following documents:

• Main text
• fonc-03-00318.pdf

View BVdb publication page

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