Gene-panel sequencing and the prediction of breast-cancer risk.
暂无分享,去创建一个
Nazneen Rahman | Peter Devilee | Alfons Meindl | Georgia Chenevix-Trench | Paul D P Pharoah | Fergus J Couch | Douglas F Easton | Mark Robson | Marc Tischkowitz | Sean V Tavtigian | N. Rahman | F. Couch | W. Foulkes | M. Southey | D. Easton | P. Pharoah | A. Antoniou | D. Evans | G. Chenevix-Trench | P. Devilee | S. Tavtigian | K. Nathanson | A. Meindl | M. Robson | S. Domchek | D. Goldgar | M. Tischkowitz | D. Evans | William D Foulkes | David E Goldgar | Antonis C Antoniou | Katherine L Nathanson | Susan M Domchek | D Gareth R Evans | Melissa Southey | Paul D. P. Pharoah | P. Pharoah
[1] D. Longo,et al. Precision medicine--personalized, problematic, and promising. , 2015, The New England journal of medicine.
[2] Heidi L Rehm,et al. ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.
[3] Gail P Jarvik,et al. The FDA and genomic tests--getting regulation right. , 2015, The New England journal of medicine.
[4] Aniruddh Kashyap,et al. Germline RECQL mutations are associated with breast cancer susceptibility , 2015, Nature Genetics.
[5] Yuntao Xie,et al. Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer , 2015, PLoS genetics.
[6] Eric S. Lander,et al. Cutting the Gordian helix--regulating genomic testing in the era of precision medicine. , 2015, The New England journal of medicine.
[7] Thomas Brüning,et al. Investigation of gene‐environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors , 2015, International journal of cancer.
[8] M. Goldacre,et al. Age-specific risk of breast cancer in women with neurofibromatosis type 1 , 2015, British Journal of Cancer.
[9] J. Sharfstein. FDA regulation of laboratory-developed diagnostic tests: protect the public, advance the science. , 2015, JAMA.
[10] F. Couch,et al. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer , 2014, Proceedings of the National Academy of Sciences.
[11] G. Valk,et al. Breast-cancer predisposition in multiple endocrine neoplasia type 1. , 2014, The New England journal of medicine.
[12] T. Rebbeck,et al. Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. , 2014, Journal of the National Cancer Institute.
[13] G. Chenevix-Trench,et al. Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. , 2014, Biomarkers in medicine.
[14] D. Easton,et al. BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface , 2013, British Journal of Cancer.
[15] W. Foulkes,et al. Breast-cancer risk in families with mutations in PALB2. , 2014, The New England journal of medicine.
[16] J. Hopper,et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study , 2014, Breast Cancer Research.
[17] C. Compton,et al. Breaking a Vicious Cycle , 2013, Science Translational Medicine.
[18] Guofeng Zhang,et al. Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk , 2013, Tumor Biology.
[19] Diana Eccles,et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. , 2013, Journal of the National Cancer Institute.
[20] Jaana M. Hartikainen,et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk , 2013, Nature Genetics.
[21] Patrick Neven,et al. Evidence of Gene–Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors , 2013, PLoS genetics.
[22] V. Brouste,et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome , 2013, Journal of Medical Genetics.
[23] Peter Donnelly,et al. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer , 2012, Nature.
[24] Aung Ko Win,et al. Risk of breast cancer in Lynch syndrome: a systematic review , 2013, Breast Cancer Research.
[25] S. Cross,et al. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. , 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[26] X. Ye,et al. Increased risk of breast cancer in women with NF1 , 2012, American journal of medical genetics. Part A.
[27] R. Tothill,et al. Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles , 2012, PLoS genetics.
[28] L. Aaltonen,et al. A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer , 2012, Journal of Medical Genetics.
[29] S. Seal,et al. Germline RAD51C mutations confer susceptibility to ovarian cancer , 2012, Nature Genetics.
[30] Daniel J. Park,et al. Rare mutations in XRCC2 increase the risk of breast cancer. , 2012, American journal of human genetics.
[31] J. Houwing-Duistermaat,et al. MUTYH gene variants and breast cancer in a Dutch case–control study , 2012, Breast Cancer Research and Treatment.
[32] C. Eng,et al. Lifetime Cancer Risks in Individuals with Germline PTEN Mutations , 2012, Clinical Cancer Research.
[33] Fergus J Couch,et al. A review of a multifactorial probability‐based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) , 2012, Human mutation.
[34] W. Jin,et al. RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer , 2012, Breast Cancer Research and Treatment.
[35] A. Gylfason,et al. Mutations in BRIP1 confer high risk of ovarian cancer , 2011, Nature Genetics.
[36] Deborah Hughes,et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer , 2011, Nature Genetics.
[37] Peter Kraft,et al. Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. , 2011, Journal of the National Cancer Institute.
[38] J. Schleutker,et al. RAD51C is a susceptibility gene for ovarian cancer. , 2011, Human molecular genetics.
[39] P. Oefner,et al. Rare variants in the ATM gene and risk of breast cancer , 2011, Breast Cancer Research.
[40] J. Hopper,et al. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study , 2011, Breast Cancer Research.
[41] D. Januszkiewicz-Lewandowska,et al. RAD50 gene mutations are not likely a risk factor for breast cancer in Poland , 2010, Breast Cancer Research and Treatment.
[42] A. Hollestelle,et al. Discovering moderate-risk breast cancer susceptibility genes. , 2010, Current opinion in genetics & development.
[43] S. Plon. The Breast Cancer Susceptibility Mutation PALB2 1592delT Is Associated with an Aggressive Tumor Phenotype , 2010 .
[44] H. Nevanlinna,et al. Aberrations of the MRE11–RAD50–NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer‐predisposing gene , 2008, Molecular oncology.
[45] A. Spurdle,et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results , 2008, Human mutation.
[46] Peter Kraft,et al. Curses--winner's and otherwise--in genetic epidemiology. , 2008, Epidemiology.
[47] F. Couch,et al. Common breast cancer predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers , 2008 .
[48] L. Shulman,et al. A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes , 2008 .
[49] Giovanni Parmigiani,et al. Meta-analysis of BRCA1 and BRCA2 penetrance. , 2007, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[50] Katri Pylkäs,et al. A recurrent mutation in PALB2 in Finnish cancer families , 2007, Nature.
[51] S. Seal,et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene , 2007, Nature Genetics.
[52] Nazneen Rahman,et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles , 2006, Nature Genetics.
[53] Päivi Heikkilä,et al. Evaluation of RAD50 in familial breast cancer predisposition , 2006, International journal of cancer.
[54] S. Gruber,et al. Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome , 2006, Clinical Cancer Research.
[55] Arto Mannermaa,et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. , 2005, Carcinogenesis.
[56] A. Ashworth,et al. Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study , 2005, The Lancet.
[57] A. Børresen-Dale,et al. Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia , 2005, British Journal of Cancer.
[58] Lesley McGuffog,et al. Cancer risks and mortality in heterozygous ATM mutation carriers. , 2005, Journal of the National Cancer Institute.
[59] A. Whittemore,et al. Breast Cancer Risks for BRCA1/2 Carriers , 2004, Science.
[60] F. Couch,et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. , 2004, American journal of human genetics.
[61] Päivi Heikkilä,et al. CHEK2 variant I157T may be associated with increased breast cancer risk , 2004, International journal of cancer.
[62] Nazneen Rahman,et al. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. , 2004, American journal of human genetics.
[63] J. Hopper,et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. , 2003, American journal of human genetics.
[64] Shih-Jen Hwang,et al. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. , 2003, American journal of human genetics.
[65] L. V. van't Veer,et al. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. , 2003, Cancer research.
[66] The Polish Breast Cancer Consortium. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations , 2002 .
[67] C Caldas,et al. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. , 2001, Gastroenterology.
[68] D. Easton,et al. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. , 2001, American journal of human genetics.
[69] A. Aurias,et al. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families , 1999, British Journal of Cancer.
[70] J. Fraumeni,et al. Multiple primary cancers in families with Li-Fraumeni syndrome. , 1998, Journal of the National Cancer Institute.
[71] Jing Li,et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome , 1997, Nature Genetics.
[72] L. Strong,et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. , 1990, Science.
[73] J. Ferlay,et al. Cancer Incidence in Five Continents , 1970, Union Internationale Contre Le Cancer / International Union against Cancer.