Considerations for Comprehensive Assessment of Genetic Predisposition in Familial Breast Cancer
作者： Henry Lynch , Carrie Synder , San Ming Wang
DOI: 10.1111/TBJ.12358
关键词:
摘要: About 10–15% of breast cancer cases are family related, classified as familial cancer. The disease was first reported in 1866 and determined to be an autosomal dominant genetic 1971. Germline mutations BRCA1 were discovered deemed the predisposition for 1994. By now, predispositions about 40% families have been identified. New molecular approaches currently under development should accelerate process identify full spectrum disease, thereby enabling a better understanding basis therein providing benefit high-risk patients.
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sci-hub.se 参考文章(62)
Maya Ghoussaini, Paul D.P. Pharoah, Douglas F. Easton, Inherited genetic susceptibility to breast cancer: the beginning of the end or the end of the beginning? American Journal of Pathology. ,vol. 183, pp. 1038- 1051 ,(2013) , 10.1016/J.AJPATH.2013.07.003
, Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Annals of Internal Medicine. ,vol. 143, pp. 355- ,(2005) , 10.7326/0003-4819-143-5-200509060-00011
John D. Minna, Adi F. Gazdar, Gail E. Tomlinson, Vijay Tonk, Arvind K. Virmani, Victor A. Stastny, Joanne L. Blum, Jerry W. Shay, Nancy R. Schneider, Tina T-L. Chen, Monique A. Spillman, Ignacio I. Wistuba, Characterization of a Breast Cancer Cell Line Derived from a Germ-Line BRCA1 Mutation Carrier Cancer Research. ,vol. 58, pp. 3237- 3242 ,(1998)
Ritva Karhu, Rosa B. Barkardottir, Bjarni A. Agnarsson, Jorma Isola, Oskar Johannsson, Åke Borg, Minna Tanner, Håkan Olsson, Olli-P. Kallioniemi, Mika Tirkkonen, Sigurdur Ingvarsson, Distinct Somatic Genetic Changes Associated with Tumor Progression in Carriers of BRCA1 and BRCA2 Germ-line Mutations Cancer Research. ,vol. 57, pp. 1222- 1227 ,(1997)
Michael J. Hall, Andrea D. Forman, Robert Pilarski, Georgia Wiesner, Veda N. Giri, Gene panel testing for inherited cancer risk. Journal of The National Comprehensive Cancer Network. ,vol. 12, pp. 1339- 1346 ,(2014) , 10.6004/JNCCN.2014.0128
Piri L Welcsh, Kelly N Owens, Mary-Claire King, Insights into the functions of BRCA1 and BRCA2. Trends in Genetics. ,vol. 16, pp. 69- 74 ,(2000) , 10.1016/S0168-9525(99)01930-7
Katie Snape, Elise Ruark, Patrick Tarpey, Anthony Renwick, Clare Turnbull, Sheila Seal, Anne Murray, Sandra Hanks, Jenny Douglas, Michael R. Stratton, Nazneen Rahman, Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. Breast Cancer Research and Treatment. ,vol. 134, pp. 429- 433 ,(2012) , 10.1007/S10549-012-2057-X
GM Lenoir, H Lynch, P Watson, T Conway, J Lynch, S Narod, J Feunteun, Familial breast-ovarian cancer locus on chromosome 17q12-q23 The Lancet. ,vol. 338, pp. 82- 83 ,(1991) , 10.1016/0140-6736(91)90076-2
Pardeep Kaurah, Andrée MacMillan, Niki Boyd, Janine Senz, Alessandro De Luca, Nicki Chun, Gianpaolo Suriano, Sonya Zaor, Lori Van Manen, Cathy Gilpin, Sarah Nikkel, Mary Connolly-Wilson, Scott Weissman, Wendy S. Rubinstein, Courtney Sebold, Robert Greenstein, Jennifer Stroop, Dwight Yim, Benoit Panzini, Wendy McKinnon, Marc Greenblatt, Debrah Wirtzfeld, Daniel Fontaine, Daniel Coit, Sam Yoon, Daniel Chung, Gregory Lauwers, Antonio Pizzuti, Carlos Vaccaro, Maria Ana Redal, Carla Oliveira, Marc Tischkowitz, Sylviane Olschwang, Steven Gallinger, Henry Lynch, Jane Green, James Ford, Paul Pharoah, Bridget Fernandez, David Huntsman, Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer JAMA. ,vol. 297, pp. 2360- 2372 ,(2007) , 10.1001/JAMA.297.21.2360
Philip J Stephens, Patrick S Tarpey, Helen Davies, Peter Van Loo, Chris Greenman, David C Wedge, Serena Nik-Zainal, Sancha Martin, Ignacio Varela, Graham R Bignell, Lucy R Yates, Elli Papaemmanuil, David Beare, Adam Butler, Angela Cheverton, John Gamble, Jonathan Hinton, Mingming Jia, Alagu Jayakumar, David Jones, Calli Latimer, King Wai Lau, Stuart McLaren, David J McBride, Andrew Menzies, Laura Mudie, Keiran Raine, Roland Rad, Michael Spencer Chapman, Jon Teague, Douglas Easton, Anita Langerød, Oslo Breast Cancer Consortium (OSBREAC) Karesen Rolf 34 35 Schlichting Ellen 34 Naume Bjorn 35 36 Sauer Torill 35 37 Ottestad Lars 36, Ming Ta Michael Lee, Chen-Yang Shen, Benita Tan Kiat Tee, Bernice Wong Huimin, Annegien Broeks, Ana Cristina Vargas, Gulisa Turashvili, John Martens, Aquila Fatima, Penelope Miron, Suet-Feung Chin, Gilles Thomas, Sandrine Boyault, Odette Mariani, Sunil R Lakhani, Marc van de Vijver, Laura van ‘t Veer, John Foekens, Christine Desmedt, Christos Sotiriou, Andrew Tutt, Carlos Caldas, Jorge S Reis-Filho, Samuel AJR Aparicio, Anne Vincent Salomon, Anne-Lise Børresen-Dale, Andrea L Richardson, Peter J Campbell, P Andrew Futreal, Michael R Stratton, None, The landscape of cancer genes and mutational processes in breast cancer Nature. ,vol. 486, pp. 400- 404 ,(2012) , 10.1038/NATURE11017