Classification of Genetic Variants
作者： Maurizio Genuardi , Elke Holinski-Feder , Andreas Laner , Alexandra Martins
DOI: 10.1007/978-3-319-74259-5_18
关键词:
摘要: Widespread resequencing for research and diagnostic purposes has disclosed a huge amount of genetic variability in the human genome, including genes associated with inherited predisposition to colorectal cancer. The functional clinical consequences gene variants identified are often difficult predict. Therefore, it becoming increasingly evident that standardized approaches interpretation needed order maximize utility molecular testing. In this chapter, we discuss strategies variant classification, special reference hereditary cancer points evidence available their interpretation.
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Emanuela Lucci-Cordisco, Luigi Boccuto, Giovanni Neri, Maurizio Genuardi, The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. Cancer Biomarkers. ,vol. 2, pp. 11- 27 ,(2006) , 10.3233/CBM-2006-21-203
Sarah Sherlock, Zhuang Liu, Qizhen Cao, Hongjie Dai, Xiaoyuan Chen, Corrine Davis, Kai Chen, Drug delivery with carbon nanotubes for in vivo cancer treatment arXiv: Materials Science. ,(2008) , 10.1158/0008-5472
Robbert DA Weren, Marjolijn JL Ligtenberg, C Marleen Kets, Richarda M De Voer, Eugène TP Verwiel, Liesbeth Spruijt, Wendy AG van Zelst-Stams, Marjolijn C Jongmans, Christian Gilissen, Jayne Y Hehir-Kwa, Alexander Hoischen, Jay Shendure, Evan A Boyle, Eveline J Kamping, Iris D Nagtegaal, Bastiaan BJ Tops, Fokko M Nagengast, AD Geurts van Kessel, J Han JM van Krieken, Roland P Kuiper, Nicoline Hoogerbrugge, None, A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer Nature Genetics. ,vol. 47, pp. 668- 671 ,(2015) , 10.1038/NG.3287
Ivan Adzhubei, Daniel M. Jordan, Shamil R. Sunyaev, Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2 Current protocols in human genetics. ,vol. 76, ,(2013) , 10.1002/0471142905.HG0720S76
Patrizia Lastella, Nicoletta Concetta Surdo, Nicoletta Resta, Ginevra Guanti, Alessandro Stella, In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects BMC Genomics. ,vol. 7, pp. 243- 243 ,(2006) , 10.1186/1471-2164-7-243
Sarah Briggs, Ian Tomlinson, Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers The Journal of Pathology. ,vol. 230, pp. 148- 153 ,(2013) , 10.1002/PATH.4185
Josef Jiricny, Bert Vogelstein, Elda Cannavo, Giancarlo Marra, Stefania D’Atri, Hai Yan, Claudia Perrera, Phenotypic analysis of hMSH2 mutations in mouse cells carrying human chromosomes Cancer Research. ,vol. 61, pp. 7719- 7721 ,(2001) , 10.5167/UZH-34474
Hai Yan, Nickolas Papadopoulos, Giancarlo Marra, Claudia Perrera, Josef Jiricny, C. Richard Boland, Henry T. Lynch, Robert B. Chadwick, Albert de la Chapelle, Karin Berg, James R. Eshleman, Weishi Yuan, Sanford Markowitz, Steven J. Laken, Christoph Lengauer, Kenneth W. Kinzler, Bert Vogelstein, Conversion of diploidy to haploidy Nature. ,vol. 403, pp. 723- 724 ,(2000) , 10.1038/35001659
Brooke E. Howitt, Sachet A. Shukla, Lynette M. Sholl, Lauren L. Ritterhouse, Jaclyn C. Watkins, Scott Rodig, Elizabeth Stover, Kyle C. Strickland, Alan D. D’Andrea, Catherine J. Wu, Ursula A. Matulonis, Panagiotis A. Konstantinopoulos, Association of Polymerase e–Mutated and Microsatellite-Instable Endometrial Cancers With Neoantigen Load, Number of Tumor-Infiltrating Lymphocytes, and Expression of PD-1 and PD-L1 JAMA Oncology. ,vol. 1, pp. 1319- 1323 ,(2015) , 10.1001/JAMAONCOL.2015.2151
T.K. Kadiyska, T.P. Todorov, S.N. Bichev, R.V. Vazharova, A.V. Nossikoff, A.S. Savov, V.I. Mitev, APC promoter 1B deletion in familial polyposis—implications for mutation‐negative families Clinical Genetics. ,vol. 85, pp. 452- 457 ,(2014) , 10.1111/CGE.12210