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Nat Genet:研究发现评价患结肠癌风险的新方法

来源:生物谷 2014-01-27 21:14

2014年1月27日讯 /生物谷BIOON/--近日,Vermont大学研究人员参与开发能有效研究基因变化的一个更准确的方法,以确定患结肠癌和其他癌症的高危人群。该研究结果发表在Nature Genetics杂志上。

Marc Greenblatt医学博士等人协作努力解释遗传性大肠癌相关的基因数据,该小组的研究结果将让医生来能访问公开可用的数据,从而更有效地解释患癌风险。鉴定癌症患者基因突变的高风险能给予患者和他们的家庭相关信息,指导治疗方案,手术等临床治疗方案的选择。

Lynch综合征是一种遗传性疾病,大大增加了结肠癌,子宫癌和其他癌症的风险。对于怀疑有Lynch综合征遗传变异的患者,基因检测结果一直难以解释,因此限制了这些患者和他们的家人来管理癌症风险的能力。

现在,Greenblatt和他的国际合作者集中负责Lynch综合征的遗传变异四个基因。基因检测经常用来寻找有害的基因突变,但是,当遗传变化被发现时,约四分之一的结果都是难以解释。

而该研究小组成功开发了分类基因变化的新模式,这就能测序数据转换成可以有临床益处的真正知识。Greenblatt说:利用这项工作的结果,医生可以更决定性地判断这些患者是否有Lynch综合征。(生物谷Bioon.com)

 

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Bryony A Thompson,  Amanda B Spurdle,  John-Paul Plazzer,  Marc S Greenblatt,  Kiwamu Akagi,  Fahd Al-Mulla,  Bharati Bapat,  Inge Bernstein,  Gabriel Capellá,  Johan T den Dunnen, Desiree du Sart,  Aurelie Fabre,  Michael P Farrell,  Susan M Farrington,  Ian M Frayling, Thierry Frebourg,  David E Goldgar,  Christopher D Heinen,  Elke Holinski-Feder,  Maija Kohonen-Corish,  Kristina Lagerstedt Robinson,  Suet Yi Leung,  Alexandra Martins,  Pal Moller,  Monika Morak  et al.

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome–associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.

 

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