Clinical genetics of hereditary colorectal cancer

作者: Derek G. Power , Emily Gloglowski , Steven M. Lipkin

DOI: 10.1016/J.HOC.2010.06.006

关键词: MedicineColorectal cancerGermlineOncologyLynch syndromeGenetic testingCancerDNA mismatch repairMedical geneticsGermline mutationInternal medicineGastroenterology

摘要: Colorectal cancer (CRC) is a common disease, and approximately 25% of patients have familial component. High-penetrance singlegene germline mutations conferring true hereditary susceptibility account for around 5% to 6% all cases. Lynch syndrome the most form colorectal cancer. Much component in remaining cases CRC likely polygenic, many genetic changes involved are as yet unidentified. This article addresses clinically important syndromes.

参考文章(139)
Peter Beighton, Greta Beighton, de la Chapelle, A. The Person Behind the Syndrome. pp. 209- 209 ,(1997) , 10.1007/978-1-4471-0925-9_118
Daniel R. McGrath, Allan D. Spigelman, Preventive measures in Peutz-Jeghers syndrome Familial Cancer. ,vol. 1, pp. 121- 125 ,(2001) , 10.1023/A:1013896813918
F Marroni, C Pastrello, P Benatti, M Torrini, D Barana, EL Cordisco, A Viel, C Mareni, C Oliani, M Genuardi, JE Bailey-Wilson, M Ponz de Leon, S Presciuttini, A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability Clinical Genetics. ,vol. 69, pp. 254- 262 ,(2006) , 10.1111/J.1399-0004.2006.00577.X
Nicola S. Fearnhead, Bruce Winney, Walter F. Bodmer, Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model. Cell Cycle. ,vol. 4, pp. 521- 525 ,(2005) , 10.4161/CC.4.4.1591
Marie Luise Bisgaard, Steffen Bülow, Familial adenomatous polyposis (FAP): Genotype correlation to FAP phenotype with osteomas and sebaceous cysts American Journal of Medical Genetics Part A. ,vol. 140A, pp. 200- 204 ,(2006) , 10.1002/AJMG.A.31010
Yvonne MC Hendriks, Anja Wagner, Hans Morreau, Fred Menko, Astrid Stormorken, Franz Quehenberger, Lodewijk Sandkuijl, Pal Møller, Maurizio Genuardi, Hans Van Houwelingen, Carli Tops, Marjo Van Puijenbroek, Paul Verkuijlen, Gemma Kenter, Anneke Van Mil, Hanne Meijers-Heijboer, Gita B Tan, Martijn H Breuning, Riccardo Fodde, Jull Th Winjen, Annette HJT Bröcker-Vriends, Hans Vasen, None, Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. ,vol. 127, pp. 17- 25 ,(2004) , 10.1053/J.GASTRO.2004.03.068
Robert Gryfe, Nando Di Nicola, Geeta Lal, Steven Gallinger, Mark Redston, Inherited Colorectal Polyposis and Cancer Risk of the APC I1307K Polymorphism American Journal of Human Genetics. ,vol. 64, pp. 378- 384 ,(1999) , 10.1086/302262
Marjolijn J L Ligtenberg, Roland P Kuiper, Tsun Leung Chan, Monique Goossens, Konnie M Hebeda, Marsha Voorendt, Tracy Y H Lee, Danielle Bodmer, Eveline Hoenselaar, Sandra J B Hendriks-Cornelissen, Wai Yin Tsui, Chi Kwan Kong, Han G Brunner, Ad Geurts van Kessel, Siu Tsan Yuen, J Han J M van Krieken, Suet Yi Leung, Nicoline Hoogerbrugge, Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1 Nature Genetics. ,vol. 41, pp. 112- 117 ,(2009) , 10.1038/NG.283
Seung Tae Kim, Jeeyun Lee, Se Hoon Park, Joon Oh Park, Ho Yeong Lim, Won Ki Kang, Jin Yong Kim, Young Ho Kim, Dong Kyung Chang, Poong-Lyul Rhee, Dae Shick Kim, Haeran Yun, Yong Beom Cho, Hee Cheol Kim, Seong Hyeon Yun, Woo Yong Lee, Ho-Kyung Chun, Young Suk Park, Clinical impact of microsatellite instability in colon cancer following adjuvant FOLFOX therapy. Cancer Chemotherapy and Pharmacology. ,vol. 66, pp. 659- 667 ,(2010) , 10.1007/S00280-009-1206-3