Publications:

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: ATM: K1454N

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s13.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ATM: K1454N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One

George Priya Doss, C C; Rajith, B B

Publication Date: 2012

Variant appearance in text: ATM: K1454N

PubMed Link: 22529920

Variant Present in the following documents:

• Main text
• pone.0034573.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: ATM: K1454N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Breast Cancer Research And Treatment

Broeks, Annegien A; Braaf, Linde M LM; Huseinovic, Angelina A; Schmidt, Marjanka K MK; Russell, Nicola S NS; van Leeuwen, Flora E FE; Hogervorst, Frans B L FB; Van 't Veer, Laura J LJ

Publication Date: 2008-01

Variant appearance in text: ATM: K1454N

PubMed Link: 17393301

Variant Present in the following documents:

• Main text

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Abstracts of the 2nd International Symposium on the Molecular Biology of Breast Cancer, Lillehammer, Norway, 12 - 16 March 2000.

Breast Cancer Research : Bcr

Publication Date: 2000-03-12

Variant appearance in text: ATM: K1454N

PubMed Link: 16509961

Variant Present in the following documents:

• bcr94.pdf

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Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fang, Nicole Y NY; Greiner, Timothy C TC; Weisenburger, Dennis D DD; Chan, Wing C WC; Vose, Julie M JM; Smith, Lynette M LM; Armitage, James O JO; Mayer, R Aeryn RA; Pike, Brian L BL; Collins, Francis S FS; Hacia, Joseph G JG

Publication Date: 2003-04-29

Variant appearance in text: ATM: K1454N

PubMed Link: 12697903

Variant Present in the following documents:

• Main text

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Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Alsner, J J; Yilmaz, M M; Guldberg, P P; Hansen, L L LL; Overgaard, J J

Publication Date: 2000-10

Variant appearance in text: ATM: K1454N

PubMed Link: 11051239

Variant Present in the following documents:

• bcr109.pdf

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