Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24MLH1andMSH2Gene Variants

Author:

Tricarico Rossella12,Kasela Mariann3,Mareni Cristina4,Thompson Bryony A.56,Drouet Aurélie7,Staderini Lucia18,Gorelli Greta1,Crucianelli Francesca1,Ingrosso Valentina1,Kantelinen Jukka3,Papi Laura1,De Angioletti Maria910,Berardi Margherita9,Gaildrat Pascaline7,Soukarieh Omar7,Turchetti Daniela11,Martins Alexandra7,Spurdle Amanda B.12,Nyström Minna3,Genuardi Maurizio113,

Affiliation:

1. Department of Biomedical, Experimental and Clinical Sciences, Medical Genetics Unit; University of Florence; Florence Italy

2. Cancer Epigenetics and Cancer Biology Programs; Fox Chase Cancer Center; Philadelphia Pennsylvania

3. Department of Biosciences, Division of Genetics; University of Helsinki; Helsinki Finland

4. Tuscan Tumor Institute; Florence Italy

5. Department of Oncological Sciences, Huntsman Cancer Institute; University of Utah; Salt Lake City Utah

6. Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health; University of Melbourne; Victoria Australia

7. Inserm-U1079-IRIB, Normandy Centre for Genomic and Personalized Medicine; University of Rouen; Rouen France

8. Microbiology and Virology Department; Fondazione IRCCS Policlinico San Matteo; Pavia Italy

9. Cancer Genetics and Gene Transfer - Core Research Laboratory; Istituto Toscano Tumori; Florence Italy

10. ICCOM-CNR; Sesto Fiorentino; Italy

11. Medical Genetics, Department of Medical and Surgical Sciences (DIMEC); University of Bologna; Bologna Italy

12. Genetics and Computational Biology Department; QIMR Berghofer Medical Research Institute; Brisbane Australia

13. Institute of Genomic Medicine, A. Gemelli School of Medicine, Medical Genetics Unit; Catholic University of the Sacred Heart; Rome Italy

Funder

Istituto Toscano Tumori

National Health and Medical Research Council

National Institutes of Health

European Research Council

Institut National Du Cancer

Fondation ARC pour la Recherche sur le Cancer

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference60 articles.

1. The role of clinical criteria, genetic and epigenetic alterations in Lynch-syndrome diagnosis;Alemayehu;Neoplasma,2007

2. Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics;Arnold;Hum Mutat,2009

3. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing;Auclair;Hum Mutat,2006

4. Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2;Betz;J Cancer Res Clin Oncol,2010

5. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer;Boland;Cancer Res,1998

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3