Cancer risk assessment using genetic panel testing: considerations for clinical application.
作者： Susan Hiraki , Erica S. Rinella , Freya Schnabel , Ruth Oratz , Harry Ostrer
DOI: 10.1007/S10897-014-9695-6
关键词:
摘要: With the completion of Human Genome Project and development high throughput technologies, such as next-generation sequencing, use multiplex genetic testing, in which multiple genes are sequenced simultaneously to test for one or more conditions, is growing rapidly. Reflecting underlying heterogeneity where a broad range confer risks cancers, cancer panels assess these represents just example how testing being applied clinically. There number issues challenges consider when conducting risk assessment, become exceedingly complex moving from traditional single-gene approach panel testing. Here, we address practical considerations clinical breast, ovarian, colon including benefits, limitations challenges, counseling issues, management guidelines.
springer.com
elsevier.com
advancedpractitioner.com 
researchgate.net 参考文章(210)
Julius Gudmundsson, Patrick Sulem, Andrei Manolescu, Laufey T Amundadottir, Daniel Gudbjartsson, Agnar Helgason, Thorunn Rafnar, Jon T Bergthorsson, Bjarni A Agnarsson, Adam Baker, Asgeir Sigurdsson, Kristrun R Benediktsdottir, Margret Jakobsdottir, Jianfeng Xu, Thorarinn Blondal, Jelena Kostic, Jielin Sun, Shyamali Ghosh, Simon N Stacey, Magali Mouy, Jona Saemundsdottir, Valgerdur M Backman, Kristleifur Kristjansson, Alejandro Tres, Alan W Partin, Marjo T Albers-Akkers, Javier Godino-Ivan Marcos, Patrick C Walsh, Dorine W Swinkels, Sebastian Navarrete, Sarah D Isaacs, Katja K Aben, Theresa Graif, John Cashy, Manuel Ruiz-Echarri, Kathleen E Wiley, Brian K Suarez, J Alfred Witjes, Mike Frigge, Carole Ober, Eirikur Jonsson, Gudmundur V Einarsson, Jose I Mayordomo, Lambertus A Kiemeney, William B Isaacs, William J Catalona, Rosa B Barkardottir, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson, Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nature Genetics. ,vol. 39, pp. 631- 637 ,(2007) , 10.1038/NG1999
Ashok R. Venkitaraman, Cancer Susceptibility and the Functions of BRCA1 and BRCA2 Cell. ,vol. 108, pp. 171- 182 ,(2002) , 10.1016/S0092-8674(02)00615-3
Nicholas C. Nicolaides, Nickolas Papadopoulos, Bo Liu, Ying-Fei Weit, Kenneth C. Carter, Steven M. Ruben, Craig A. Rosen, William A. Haseltine, Robert D. Fleischmann, Claire M. Fraser, Mark D. Adams, J. Craig Venter, Malcolm G. Dunlop, Stanley R. Hamilton, Gloria M. Petersen, Albert de la Chapelle, Bert Vogelstein, Kenneth W. Kinzler, Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. ,vol. 371, pp. 75- 80 ,(1994) , 10.1038/371075A0
Natalia Bogdanova, Sergei Feshchenko, Peter Schürmann, Regina Waltes, Britta Wieland, Peter Hillemanns, Yuri I. Rogov, Olaf Dammann, Michael Bremer, Johann H. Karstens, Christof Sohn, Raymonda Varon, Thilo Dörk, Nijmegen Breakage Syndrome mutations and risk of breast cancer International Journal of Cancer. ,vol. 122, pp. 802- 806 ,(2008) , 10.1002/IJC.23168
Rowan T Chlebowski, Erin Aiello, Anne McTiernan, Weight Loss in Breast Cancer Patient Management Journal of Clinical Oncology. ,vol. 20, pp. 1128- 1143 ,(2002) , 10.1200/JCO.20.4.1128
Paul DP Pharoah, Parry Guilford, Carlos Caldas, International Gastric Cancer Linkage Consortium, None, Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. ,vol. 121, pp. 1348- 1353 ,(2001) , 10.1053/GAST.2001.29611
Kerry A. Sherman, Suzanne M. Miller, Laura-Kate Shaw, Karen Cavanagh, Sherri Sheinfeld Gorin, Psychosocial approaches to participation in BRCA1/2 genetic risk assessment among African American women: a systematic review Journal of Community Genetics. ,vol. 5, pp. 89- 98 ,(2014) , 10.1007/S12687-013-0164-Y
Ann C. Hurley, Rose Harvey, J. Scott Roberts, Chantel Wilson-Chase, Stephanie Lloyd, Janalyn Prest, Margaret Lock, Kathy J. Horvath, Robert C. Green, Genetic susceptibility for Alzheimer's disease: why did adult offspring seek testing? American Journal of Alzheimers Disease and Other Dementias. ,vol. 20, pp. 374- 381 ,(2005) , 10.1177/153331750502000608
Christopher A Haiman, Loïc Le Marchand, Jennifer Yamamato, Daniel O Stram, Xin Sheng, Laurence N Kolonel, Anna H Wu, David Reich, Brian E Henderson, A common genetic risk factor for colorectal and prostate cancer. Nature Genetics. ,vol. 39, pp. 954- 956 ,(2007) , 10.1038/NG2098
Serena Masciari, Deborah A. Dillon, Michelle Rath, Mark Robson, Jeffrey N. Weitzel, Judith Balmana, Stephen B. Gruber, James M. Ford, David Euhus, Alexandra Lebensohn, Melinda Telli, Stephen M. Pochebit, Georgios Lypas, Judy E. Garber, Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort Breast Cancer Research and Treatment. ,vol. 133, pp. 1125- 1130 ,(2012) , 10.1007/S10549-012-1993-9