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: E347*

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

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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: Glu347*

PubMed Link: 35365198

Variant Present in the following documents:

• Main text
• 13058_2022_Article_1518.pdf

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Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Oncotarget

Huang, Dong-Sheng DS; Tao, Hou-Quan HQ; He, Xu-Jun XJ; Long, Ming M; Yu, Sheng S; Xia, Ying-Jie YJ; Wei, Zhang Z; Xiong, Zikai Z; Jones, Sian S; He, Yiping Y; Yan, Hai H; Wang, Xiaoyue X

Publication Date: 2015-12-01

Variant appearance in text: ATM: E347X

PubMed Link: 26506520

Variant Present in the following documents:

• oncotarget-06-40953-s001.pdf

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Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Oncotarget

Cifola, Ingrid I; Lionetti, Marta M; Pinatel, Eva E; Todoerti, Katia K; Mangano, Eleonora E; Pietrelli, Alessandro A; Fabris, Sonia S; Mosca, Laura L; Simeon, Vittorio V; Petrucci, Maria Teresa MT; Morabito, Fortunato F; Offidani, Massimo M; Di Raimondo, Francesco F; Falcone, Antonietta A; Caravita, Tommaso T; Battaglia, Cristina C; De Bellis, Gianluca G; Palumbo, Antonio A; Musto, Pellegrino P; Neri, Antonino A

Publication Date: 2015-07-10

Variant appearance in text: ATM: E347X

PubMed Link: 26046463

Variant Present in the following documents:

• oncotarget-06-17543-s002.xls, sheet 1
• oncotarget-06-17543-s004.xls, sheet 1

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Melanoma genome sequencing reveals frequent PREX2 mutations.

Nature

Berger, Michael F MF; Hodis, Eran E; Heffernan, Timothy P TP; Deribe, Yonathan Lissanu YL; Lawrence, Michael S MS; Protopopov, Alexei A; Ivanova, Elena E; Watson, Ian R IR; Nickerson, Elizabeth E; Ghosh, Papia P; Zhang, Hailei H; Zeid, Rhamy R; Ren, Xiaojia X; Cibulskis, Kristian K; Sivachenko, Andrey Y AY; Wagle, Nikhil N; Sucker, Antje A; Sougnez, Carrie C; Onofrio, Robert R; Ambrogio, Lauren L; Auclair, Daniel D; Fennell, Timothy T; Carter, Scott L SL; Drier, Yotam Y; Stojanov, Petar P; Singer, Meredith A MA; Voet, Douglas D; Jing, Rui R; Saksena, Gordon G; Barretina, Jordi J; Ramos, Alex H AH; Pugh, Trevor J TJ; Stransky, Nicolas N; Parkin, Melissa M; Winckler, Wendy W; Mahan, Scott S; Ardlie, Kristin K; Baldwin, Jennifer J; Wargo, Jennifer J; Schadendorf, Dirk D; Meyerson, Matthew M; Gabriel, Stacey B SB; Golub, Todd R TR; Wagner, Stephan N SN; Lander, Eric S ES; Getz, Gad G; Chin, Lynda L; Garraway, Levi A LA

Publication Date: 2012-05-09

Variant appearance in text: ATM: E347*

PubMed Link: 22622578

Variant Present in the following documents:

• NIHMS362881-supplement-3.xlsx, sheet 5

View BVdb publication page