Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

作者: Nadine Tung , Nancy U. Lin , John Kidd , Brian A. Allen , Nanda Singh

DOI: 10.1200/JCO.2015.65.0747

关键词: GeneTriple Negative Breast NeoplasmsGermline mutationGermlineGenetic testingCancerProspective cohort studyMedicineBreast cancerBioinformatics

摘要: PurposeTesting for germline mutations in BRCA1/2 is standard select patients with breast cancer to guide clinical management. Next-generation sequencing (NGS) allows testing additional predisposition genes. The frequency of detected by using NGS has been reported who were referred or triple-negative cancer. We assessed the and predictors 25 genes, including BRCA1/2, a sequential series at an academic institution examine utility genetic this population.MethodsPatients stages I III seen single center between 2010 2012, agreed participate research DNA banking, included (N = 488). Personal family histories collected was sequenced identify mutations.ResultsDeleterious id...

参考文章(50)
Andrea Desmond, Allison W. Kurian, Michele Gabree, Meredith A. Mills, Michael J. Anderson, Yuya Kobayashi, Nora Horick, Shan Yang, Kristen M. Shannon, Nadine Tung, James M. Ford, Stephen E. Lincoln, Leif W. Ellisen, Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. JAMA Oncology. ,vol. 1, pp. 943- 951 ,(2015) , 10.1001/JAMAONCOL.2015.2690
Nadine Tung, Chiara Battelli, Brian Allen, Rajesh Kaldate, Satish Bhatnagar, Karla Bowles, Kirsten Timms, Judy E. Garber, Christina Herold, Leif Ellisen, Jill Krejdovsky, Kim DeLeonardis, Kristin Sedgwick, Kathleen Soltis, Benjamin Roa, Richard J. Wenstrup, Anne-Renee Hartman, Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel Cancer. ,vol. 121, pp. 25- 33 ,(2015) , 10.1002/CNCR.29010
J.M. Eggington, K.R. Bowles, K. Moyes, S. Manley, L. Esterling, S. Sizemore, E. Rosenthal, A. Theisen, J. Saam, C. Arnell, D. Pruss, J. Bennett, L.A. Burbidge, B. Roa, R.J. Wenstrup, A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clinical Genetics. ,vol. 86, pp. 229- 237 ,(2014) , 10.1111/CGE.12315
Douglas F Easton, Paul DP Pharoah, Antonis C Antoniou, Marc Tischkowitz, Sean V Tavtigian, Katherine L Nathanson, Peter Devilee, Alfons Meindl, Fergus J Couch, Melissa Southey, David E Goldgar, D Gareth R Evans, Georgia Chenevix-Trench, Nazneen Rahman, Mark Robson, Susan M Domchek, William D Foulkes, None, Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk The New England Journal of Medicine. ,vol. 372, pp. 2243- 2257 ,(2015) , 10.1056/NEJMSR1501341
Chey Loveday, Clare Turnbull, Elise Ruark, Rosa Maria Munoz Xicola, Emma Ramsay, Deborah Hughes, Margaret Warren-Perry, Katie Snape, Breast Cancer Susceptibility Collaboration (BCSC)(UK), Diana Eccles, D Gareth Evans, Martin Gore, Anthony Renwick, Sheila Seal, Antonis C Antoniou, Nazneen Rahman, None, Germline RAD51C mutations confer susceptibility to ovarian cancer Nature Genetics. ,vol. 44, pp. 475- 476 ,(2012) , 10.1038/NG.2224
Jane E. Churpek, Tom Walsh, Yonglan Zheng, Zakiya Moton, Anne M. Thornton, Ming K. Lee, Silvia Casadei, Amanda Watts, Barbara Neistadt, Matthew M. Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Rafael Marquez, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade, Inherited predisposition to breast cancer among African American women Breast Cancer Research and Treatment. ,vol. 149, pp. 31- 39 ,(2015) , 10.1007/S10549-014-3195-0
Thaddeus Judkins, Benoît Leclair, Karla Bowles, Natalia Gutin, Jeff Trost, James McCulloch, Satish Bhatnagar, Adam Murray, Jonathan Craft, Bryan Wardell, Mark Bastian, Jeffrey Mitchell, Jian Chen, Thanh Tran, Deborah Williams, Jennifer Potter, Srikanth Jammulapati, Michael Perry, Brian Morris, Benjamin Roa, Kirsten Timms, Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk BMC Cancer. ,vol. 15, pp. 215- 215 ,(2015) , 10.1186/S12885-015-1224-Y
M Kriege, A Hollestelle, A Jager, P E A Huijts, E M Berns, A M Sieuwerts, M E Meijer-van Gelder, J M Collée, P Devilee, M J Hooning, J W M Martens, C Seynaeve, Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy British Journal of Cancer. ,vol. 111, pp. 1004- 1013 ,(2014) , 10.1038/BJC.2014.306
Sylvia De Brakeleer, Jacques De Grève, Remy Loris, Nicolas Janin, Willy Lissens, Erica Sermijn, Erik Teugels, Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. Human Mutation. ,vol. 31, pp. 1175- 1185 ,(2010) , 10.1002/HUMU.21200
Christian Pilarsky, Michael Wenzig, Thomas Specht, Hans Detlev Saeger, Robert Grützmann, Identification and validation of commonly overexpressed genes in solid tumors by comparison of microarray data. Neoplasia. ,vol. 6, pp. 744- 750 ,(2004) , 10.1593/NEO.04277