Publications:

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Clonal dynamics of haematopoiesis across the human lifespan.

Nature

Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ

Publication Date: 2022-06

Variant appearance in text: ATM: I2185T

PubMed Link: 35650442

Variant Present in the following documents:

• 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: ATM: 6554T>C; I2185T

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Characterization of Aberrations in DNA Damage Repair Pathways in Gastrointestinal Stromal Tumors: The Clinicopathologic Relevance of γH2AX and 53BP1 in Correlation with Heterozygous Deletions of CHEK2, BRCA2, and RB1.

Cancers

Liu, Ting-Ting TT; Li, Chien-Feng CF; Tan, Kien-Thiam KT; Jan, Yi-Hua YH; Lee, Pei-Hang PH; Huang, Chih-Hao CH; Yu, Shih-Chen SC; Tsao, Cheng-Feng CF; Wang, Jui-Chu JC; Huang, Hsuan-Ying HY

Publication Date: 2022-03-31

Variant appearance in text: ATM: I2185T

PubMed Link: 35406559

Variant Present in the following documents:

• Main text
• cancers-14-01787.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: 6554T>C; Ile2185Thr; rs779611511

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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Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.

Cold Spring Harbor Molecular Case Studies

Pandya, Deep D; Shah, Myra M; Kaplan, Fuat F; Martino, Candice C; Levy, Gillian G; Kazanjian, Mia M; Batter, Stephen S; Martignetti, John J; Frank, Richard C RC

Publication Date: 2021-02

Variant appearance in text: ATM: I2185T

PubMed Link: 33608381

Variant Present in the following documents:

• Main text
• MCS005801Pan.pdf

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: ATM: 6554T>C; Ile2185Thr; rs779611511

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

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: 6554T>C; Ile2185Thr; rs779611511

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

View BVdb publication page

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Genomic features defining exonic variants that modulate splicing.

Genome Biology

Woolfe, Adam A; Mullikin, James C JC; Elnitski, Laura L

Publication Date: 2010

Variant appearance in text: ATM: I2185T

PubMed Link: 20158892

Variant Present in the following documents:

• gb-2010-11-2-r20.pdf

View BVdb publication page

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Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Nucleic Acids Research

Královicová, Jana J; Christensen, Mikkel B MB; Vorechovský, Igor I

Publication Date: 2005

Variant appearance in text: ATM: I2185T

PubMed Link: 16141195

Variant Present in the following documents:

• gki811.pdf

View BVdb publication page

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