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Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

Journal of Genetics and Genomics 2018年第1期45卷 41-45页

作者： Sebastia Franch-Exposito clara esteban-jurado Pilar Garre Isabel Quintanilla Saray Duran-Sanchon Marcos Diaz-Gay Laia Bonjoch Miriam Cuatrecasas Esther Samper Jenifer Munoz Teresa Ocana Sabela Carballal Maria Lopez-Ceron Antoni Castells Maria Vila-Casadesus Sophia Derdak Steven Laurie Sergi Beltran Jaime carvajal Luis Bujanda clara Ruiz-Ponte Jordi Camps Meritxell Gironella Juan Jose Lozano Francesc Balaguer Joaquin Cubiella Trinidad Caldes Sergi Castellvi-Bel Gastroenterology Department Hospital Clinic de Barcelona August Pi i Sunyer Biomedical Research Institute CIBER of Hepatic and Digestive Diseases University of Barcelona Barcelona 08036 Spain Molecular Oncology Laboratory Hospital Clinico San Carlos Health Research Institute of the Hospital Clinico San Carlos Madrid 28040 Spain Department of Pathology Hospital Clinic de Barcelona Barcelona 08036 Spain EPICOLON consortium Bioinformatics Platform CIBER of Hepatic and Digestive Diseases Barcelona 08036 Spain National Center of Genomic Analysis Science Park of Barcelona Barcelona 08028 Spain Andalusian Developmental Biology Institute CSIC-Pablo de Olavide University-Andalusian Regional Government SeviUa 41013 Spain Gastroenterology Department Hospital Donostia-Biodonostia Institute CIBER of Hepatic and Digestive Diseases University of the Basque Country (UPV/EHU) San Sebastian 20080 Spain Galician Public Foundation of Genomic Medicine (FPGMX) CIBER of Rare Diseases Genomics Medicine Group Hospital Clinico Universitario University of Santiago de Compostela Santiago de Cornpostela 15706 Spain Castroenterology Department Complexo Hospitalario Universitario de Ourense Ourense Biomedical Research Institute Ourense 32005 Spain

Colorectal cancer （CRC） is one of the most common neoplasms and an important cause of mortality worldwide （http：//globocan. ***]）. Approximately 35% of the variation in CRC susceptibility is likely due to heritable factors （Lichtenstein et al., 2000}. Genetic variations in the human genome include single nucleotide variants （SNVs）, short insertions and deletions, and larger structural variants resulting in gain or loss of genomic DNA larger than 1 kb, such as copy number variants （CNVs）. Leaving aside the importance of CNVs in sporadic tumor development, these variants can also be present in the germline DNA of healthy individuals from the general population and be considered polymorphic.

关键词： WHOLE-EXOME GENE

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New genes emerging for colorectal cancer predisposition

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World Journal of Gastroenterology 2014年第8期20卷 1961-1971页

作者： clara esteban-jurado Pilar Garre Maria Vila Juan José Lozano Anna Pristoupilova Sergi Beltrán Anna Abulí Jenifer Muoz Francesc Balaguer Teresa Ocaa Antoni Castells Josep M Piqué Angel Carracedo clara Ruiz-Ponte Xavier Bessa Montserrat Andreu Luis Bujanda Trinidad Caldés Sergi Castellví-Bel Department of Gastroenterology Hospital ClínicCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas(CIBEREHD)Institut d’Investigacions Biomèdiques August Pi i Sunyer(IDIBAPS)University of Barcelona08036 BarcelonaCataloniaSpain Molecular Oncology Laboratory Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain Bioinformatics platform Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD)08036 BarcelonaSpain Centre Nacional d’Anàlisi Genòmica (CNAG) Parc Científic de Barcelona08028 BarcelonaSpain Department of Gastroenterology Hospital del Mar-IMIM (Hospital del Mar Medical Research Centre)Pompeu Fabra University08003 BarcelonaSpain Galician Public Foundation of Genomic Medicine (FPGMX) Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)Genomics Medicine GroupHospital ClínicoSantiago de CompostelaUniversity of Santiago de Compostela15706 GaliciaSpain Center of Excellence in Genomic Medicine Research King Abdulaziz University21589 JeddahKingdom of Saudi Arabia Gastroenterology Department Hospital DonostiaNetworked Biomedical Research Centre for Hepatic and Digestive Diseases (CIBEREHD)Basque Country University20080 San SebastiánSpain

Colorectal cancer(CRC)is one of the most frequent neoplasms and an important cause of mortality in the developed *** cancer is caused by both genetic and environmental factors although 35%of the variation in CRC susceptibility involves inherited genetic *** syndromes account for about5%of the total burden of CRC,with Lynch syndrome and familial adenomatous polyposis the most common *** hereditary forms,there is an important fraction of CRC cases that present familial aggregation for the disease with an unknown germline genetic *** can be also considered as a complex disease taking into account the common diseasecommom variant hypothesis with a polygenic model of inheritance where the genetic components of common complex diseases correspond mostly to variants of low/moderate *** far,30 common,low-penetrance susceptibility variants have been identified for ***,new sequencing technologies including exomeand whole-genome sequencing have permitted to add a new approach to facilitate the identification of new genes responsible for human disease *** using whole-genome sequencing,germline mutations in the POLE and POLD1 genes have been found to be responsible for a new form of CRC genetic predisposition called polymerase proofreading-associated polyposis.

关键词： Colorectal neoplasm,genetic predisposition to dise

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Mining Threats to Ancient Anthropogenic Soils and other Resources Associated to Indigenous Food Security in the Middle Caqueta River, Colombia

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Journal of Earth Science and Engineering 2014年第6期4卷 372-377页

作者： clara P. Pena-Venegas Acosta Luis Eduardo Verschoor Gerard Logreira-Buitrago Camilo esteban Agudelo Edwin Terra Preta Program Wageningen University Wageningen 6700 The Netherlands Instituto Amazonico de lnvestigaciones Cientificas Sinchi Leticia 910001 Amazonas Colombia

Mining is encroaching upon Protected Areas and Indigenous Reserves in the Colombian Amazon. In the Middle Caqueta region small-scale, illegal gold mining is eroding riverbanks, affecting water quality, and jeopardizing the livelihoods of indigenous peoples. In addition, mining also threatens the integrity of pre-Columbian anthropogenic soils (terra preta) created between 500 years to 2,000 years B. P. on the bluffs of the Caqueta River. These soils are the only, non-flooded fertile soils present in the region, and as such are important for local indigenous communities. In Colombia, there is little knowledge about Terra Preta soils. This work assesses the present and potential dangers artisanal mining has for terra preta soils and other natural resources that are central to indigenous peoples" food security. Results posit that more knowledge is needed about the way terra preta soils are related to the livelihoods of indigenous people so that informed policy decisions can be made about the desirability of mining in the region.

关键词：哥伦比亚粮食安全中东地区自然资源土著人人为土矿业威胁

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Nature:研究鉴定出蛋白Nlrp9b抵抗轮状病毒感染机制

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现代生物医学进展 2017年第27期17卷 I0002-I0002页

作者： Shu Zhu, Zheng Wei, Noah W. Palm, Yi Yang, Hua Yu, Hua-Bing Li, Geng Wang, Xuqiu Lei, Marcel R. de Zoete, Jun Zhao, Yunjiang Zheng, Haiwei Chen, Liang Shan, Richard A. Flavell Siyuan Ding, Ningguo Feng, Harry B. Greenberg Siyuan Ding, Harry B. Greenberg Penghua Wang, Yujiao Zhao Wen Pan, Jun Lu Jun Zhao, Yuval Kluger Kellie A. jurado, clara Abraham, Erol Fikrig Erol Fikrig, Richard A. Flavell Department of Immunobiology Yale University School of Medicine New Haven Connecticut 06520 USA Department of Medicine and Department of Microbiology & Immunology Stanford University School of Medicine Stanford California 94305 USA Palo Alto Veterans Institute of Research VA Palo Alto Health Care System Palo Alto California 94304 USA Department of Microbiology and Immunology New York Medical College Valhalla New York 10595 USA Department of Genetics Yale University School of Medicine New Haven Connecticut 06520 USA Department of Pathology Yale University School of Medicine New Haven Connecticut 06520 USA Department of Internal Medicine Yale University School of Medicine New Haven Connecticut 06520 USA Howard Hughes Medical Institute Chevy Chase Maryland 20815 USA

轮状病毒（rotavirus）是婴儿和儿童罹患肠胃炎和腹泻的一种最为常见的原因，每年导致全世界大约21．5万人死亡。它是高度传染性的和潜在致命性的。这种病毒特异性地感染宿主小肠中的肠上皮细胞，并且已进化出抵抗干扰素和NF-KB信号的... 详细信息

轮状病毒（rotavirus）是婴儿和儿童罹患肠胃炎和腹泻的一种最为常见的原因，每年导致全世界大约21．5万人死亡。它是高度传染性的和潜在致命性的。这种病毒特异性地感染宿主小肠中的肠上皮细胞，并且已进化出抵抗干扰素和NF-KB信号的策略来躲避免疫系统，这就提出一个问题：其他的宿主因子是否参与肠道粘膜中的抗病毒反应。不过，针对体内（特别是通过NLR炎性体）检测和限制肠道病毒的机制，人们知之甚少。

关键词：感染机制轮状病毒蛋白鉴定肠上皮细胞 NF-KB 免疫系统肠道粘膜

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