Publications:

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: ATM: Y370*

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

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Durvalumab Plus Olaparib in Previously Untreated, Platinum-Ineligible Patients With Metastatic Urothelial Carcinoma: A Multicenter, Randomized, Phase II Trial (BAYOU).

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

Rosenberg, Jonathan E JE; Park, Se Hoon SH; Kozlov, Vadim V; Dao, Tu V TV; Castellano, Daniel D; Li, Jian-Ri JR; Mukherjee, Som D SD; Howells, Kathryn K; Dry, Hannah H; Lanasa, Mark C MC; Stewart, Ross R; Bajorin, Dean F DF

Publication Date: 2022-06-23

Variant appearance in text: ATM: Y370*

PubMed Link: 35737919

Variant Present in the following documents:

• jco-41-043.pdf

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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: 1110C>A; Y370X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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: 1110C>A; Tyr370Ter

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM3_ESM.xlsx, sheet 1

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Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery.

Oncotarget

Bryce, Alan H AH; Egan, Jan B JB; Borad, Mitesh J MJ; Stewart, A Keith AK; Nowakowski, Grzegorz S GS; Chanan-Khan, Asher A; Patnaik, Mrinal M MM; Ansell, Stephen M SM; Banck, Michaela S MS; Robinson, Steven I SI; Mansfield, Aaron S AS; Klee, Eric W EW; Oliver, Gavin R GR; McCormick, Jennifer B JB; Huneke, Norine E NE; Tagtow, Colleen M CM; Jenkins, Robert B RB; Rumilla, Kandelaria M KM; Kerr, Sarah E SE; Kocher, Jean-Pierre A JA; Beck, Scott A SA; Fernandez-Zapico, Martin E ME; Farrugia, Gianrico G; Lazaridis, Konstantinos N KN; McWilliams, Robert R RR

Publication Date: 2017-04-18

Variant appearance in text: ATM: Y370X

PubMed Link: 28423702

Variant Present in the following documents:

• Main text
• oncotarget-08-27145.pdf

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