Genetic Counselling for Common Diseases, Cancer Susceptibility as Paradigm

作者: Shirley V. Hodgson

DOI: 10.1007/978-90-481-3919-4_37

关键词:

摘要: • Inherited component of cancer risk may be subdivided into rare, high penetrance genes conferring a strong susceptibility to certain cancers, which account for about 5% cases, uncommon, moderately penetrant moderate increase, and common polymorphisms alter disease small amount.

参考文章(29)
Ian PM Tomlinson, Emily Webb, Luis Carvajal-Carmona, Peter Broderick, Kimberley Howarth, Alan M Pittman, Sarah Spain, Steven Lubbe, Axel Walther, Kate Sullivan, Emma Jaeger, Sarah Fielding, Andrew Rowan, Jayaram Vijayakrishnan, Enric Domingo, Ian Chandler, Zoe Kemp, Mobshra Qureshi, Susan M Farrington, Albert Tenesa, James GD Prendergast, Rebecca A Barnetson, Steven Penegar, Ella Barclay, Wendy Wood, Lynn Martin, Maggie Gorman, Huw Thomas, Julian Peto, D Timothy Bishop, Richard Gray, Eamonn R Maher, Anneke Lucassen, David Kerr, D Gareth R Evans, CORGI Consortium, Clemens Schafmayer, Stephan Buch, Henry Völzke, Jochen Hampe, Stefan Schreiber, Ulrich John, Thibaud Koessler, Paul Pharoah, Tom van Wezel, Hans Morreau, Juul T Wijnen, John L Hopper, Melissa C Southey, Graham G Giles, Gianluca Severi, Sergi Castellví-Bel, Clara Ruiz-Ponte, Angel Carracedo, Antoni Castells, EPICOLON Consortium, Asta Försti, Kari Hemminki, Pavel Vodicka, Alessio Naccarati, Lara Lipton, Judy WC Ho, KK Cheng, Pak C Sham, J Luk, Jose AG Agúndez, Jose M Ladero, Miguel de la Hoya, Trinidad Caldés, Iina Niittymäki, Sari Tuupanen, Auli Karhu, Lauri Aaltonen, Jean-Baptiste Cazier, Harry Campbell, Malcolm G Dunlop, Richard S Houlston, None, A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3 Nature Genetics. ,vol. 40, pp. 623- 630 ,(2008) , 10.1038/NG.111
Bobbi McGivern, Jessica Everett, Geoffrey G Yager, Robert C Baumiller, Amanda Hafertepen, Howard M Saal, Family communication about positive BRCA1 and BRCA2 genetic test results Genetics in Medicine. ,vol. 6, pp. 503- 509 ,(2004) , 10.1097/01.GIM.0000144014.91237.A1
Andrew Tutt, Alan Ashworth, Can genetic testing guide treatment in breast cancer European Journal of Cancer. ,vol. 44, pp. 2774- 2780 ,(2008) , 10.1016/J.EJCA.2008.10.009
David E. Goldgar, Douglas F. Easton, Amie M. Deffenbaugh, Alvaro N.A. Monteiro, Sean V. Tavtigian, Fergus J. Couch, Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2 The American Journal of Human Genetics. ,vol. 75, pp. 535- 544 ,(2004) , 10.1086/424388
Angela Trepanier, Mary Ahrens, Wendy McKinnon, June Peters, Jill Stopfer, Sherry Campbell Grumet, Susan Manley, Julie O. Culver, Ronald Acton, Joy Larsen-Haidle, Lori Ann Correia, Robin Bennett, Barbara Pettersen, Terri Diamond Ferlita, Josephine Wagner Costalas, Katherine Hunt, Susan Donlon, Cecile Skrzynia, Carolyn Farrell, Faith Callif-Daley, Catherine Walsh Vockley, Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors Journal of Genetic Counseling. ,vol. 13, pp. 83- 114 ,(2004) , 10.1023/B:JOGC.0000018821.48330.77
Josephine Wagner Costalas, Mark Itzen, John Malick, James S. Babb, Betsy Bove, Andrew K. Godwin, Mary B. Daly, Communication of BRCA1 and BRCA2 results to at-risk relatives: a cancer risk assessment program's experience. American Journal of Medical Genetics Part C-seminars in Medical Genetics. ,vol. 119, pp. 11- 18 ,(2003) , 10.1002/AJMG.C.10003
Efterpi Papouli, Petr Cejka, Josef Jiricny, Dependence of the cytotoxicity of DNA-damaging agents on the mismatch repair status of human cells. Cancer Research. ,vol. 64, pp. 3391- 3394 ,(2004) , 10.1158/0008-5472.CAN-04-0513
Ken R. Smith, Cathleen D. Zick, Robert N. Mayer, Jeffery R. Botkin, Voluntary disclosure of BRCA1 mutation test results. Genetic Testing. ,vol. 6, pp. 89- 92 ,(2002) , 10.1089/10906570260199339
Chanita Hughes, Caryn Lerman, Marc Schwartz, Beth N. Peshkin, Lari Wenzel, Steven Narod, Camille Corio, Kenneth P. Tercyak, Danielle Hanna, Claudine Isaacs, David Main, All in the family: Evaluation of the process and content of sisters' communication aboutBRCA1 andBRCA2 genetic test results American Journal of Medical Genetics. ,vol. 107, pp. 143- 150 ,(2002) , 10.1002/AJMG.10110
Angus John Clarke, The Genetic Testing of Children ,(1998)