Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks
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E. Ostrander | D. Easton | P. Pharoah | K. Pooley | A. Dunning | R. Luben | Shahana Ahmed | M. Shah | M. Bolla | Qin Wang | C. Luccarini | C. Baynes | B. Decker | Jamie Allen | D. Conroy | Don M. Conroy | Judith E. Brown | Qin Wang
[1] S. Bojesen,et al. Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[2] Michael Jones,et al. Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers. , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[3] E. John,et al. Multigene testing of moderate-risk genes: be mindful of the missense , 2016, Journal of Medical Genetics.
[4] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[5] Nazneen Rahman,et al. Gene-panel sequencing and the prediction of breast-cancer risk. , 2015, The New England journal of medicine.
[6] C. Mathers,et al. Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012 , 2015, International journal of cancer.
[7] Nazneen Rahman,et al. Breast-cancer risk in families with mutations in PALB2. , 2014, The New England journal of medicine.
[8] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[9] D. Easton,et al. BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface , 2013, British Journal of Cancer.
[10] R Core Team,et al. R: A language and environment for statistical computing. , 2014 .
[11] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[12] Jaana M. Hartikainen,et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk , 2013, Nature Genetics.
[13] Daniel J. Park,et al. Rare mutations in XRCC2 increase the risk of breast cancer. , 2012, American journal of human genetics.
[14] Heng Li,et al. Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly , 2012, Bioinform..
[15] P. Oefner,et al. Rare variants in the ATM gene and risk of breast cancer , 2011, Breast Cancer Research.
[16] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[17] Daniel J. Park,et al. A PALB2 mutation associated with high risk of breast cancer , 2010, Breast Cancer Research.
[18] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[19] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .
[20] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[21] Alun Thomas,et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. , 2009, American journal of human genetics.
[22] R. Warren,et al. Genetic Models for the Familial Aggregation of Mammographic Breast Density , 2009, Cancer Epidemiology Biomarkers & Prevention.
[23] C. Béroud,et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.
[24] J. Hopper,et al. Penetrance Analysis of the PALB2 c.1592delT Founder Mutation , 2008, Clinical Cancer Research.
[25] M. Southey,et al. PenetranceAnalysis of the PALB 2 c . 1592 delT Founder Mutation , 2008 .
[26] Katri Pylkäs,et al. A recurrent mutation in PALB2 in Finnish cancer families , 2007, Nature.
[27] A. Whittemore,et al. Population‐based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066–6T>G (IVS10–6T>G) from the Breast Cancer Family Registry , 2006, Human mutation.
[28] A. Zharkikh,et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral , 2005, Journal of Medical Genetics.
[29] Päivi Heikkilä,et al. CHEK2 variant I157T may be associated with increased breast cancer risk , 2004, International journal of cancer.
[30] Christopher B. Burge,et al. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals , 2003, RECOMB '03.
[31] W. Pearson,et al. Current Protocols in Bioinformatics , 2002 .
[32] S. Henikoff,et al. Predicting deleterious amino acid substitutions. , 2001, Genome research.
[33] S. Salzberg,et al. GeneSplicer: a new computational method for splice site prediction. , 2001, Nucleic acids research.
[34] J. Kaprio,et al. Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland. , 2000, The New England journal of medicine.
[35] B. Ponder,et al. A Systematic Review Of Genetic Polymorphisms and Breast Cancer Risk 1 , 2000 .
[36] N. Day,et al. EPIC-Norfolk: study design and characteristics of the cohort. European Prospective Investigation of Cancer. , 1999, British journal of cancer.
[37] Michael Ruogu Zhang,et al. Statistical features of human exons and their flanking regions. , 1998, Human molecular genetics.
[38] D. Easton,et al. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. , 1998, American journal of human genetics.
[39] David Haussler,et al. Improved splice site detection in Genie , 1997, RECOMB '97.
[40] J. Benítez,et al. Rare Mutations in XRCC 2 Increase the Risk of Breast Cancer , 2022 .