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首页> 外文期刊>European journal of gastroenterology and hepatology >MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer
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MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer

机译：在没有结肠癌的情况下，在家族胰腺癌中鉴定的MSH6基因病变变异

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摘要

Objectives Lynch syndrome is characterized by pathogenetic variants in the mismatch repair genes and autosomal dominant inheritance with incomplete penetrance. Lynch syndrome is characterized by colorectal and, with lesser and variable extent, extracolonic cancers. We describe a family with MSH6 -dependent Lynch syndrome and familial pancreatic cancer and other tumours (gastric and endometrial), in the absence of colorectal neoplasia. Methods Patients were analysed by sequencing, Next Generation or Sanger, to identify germinal pathogenic variants in hereditary cancer genes. Results We identified the MSH6 gene pathogenic variant c.2194C>T, p.(Arg732Ter) in a family with hereditary pancreatic cancer without diagnosed cases of colorectal adenocarcinoma. Seven family members were affected by the MSH6 pathogenic variant. Three had pancreatic adenocarcinoma at 65, 57 and 44?years; one had endometrial cancer at 36?years. None of the remaining three subjects (75, 45 and 17?years old) had developed any cancer yet. Conclusions Lynch syndrome should be suspected in families with familial pancreatic cancer, even in the absence of colon cancers. Specifically, our observation supports the association between the MSH6 c.2194C>T pathogenic variant and extracolonic tumours and it suggests that MSH6 pathogenic variants are associated with familial pancreatic cancer more frequently than assumed.
机译：目的局限综合征的特征在于不匹配修复基因和常染色体显性遗传的致病性变异，具有不完全的渗透。 Lynch综合征的特征在于结直肠癌，并且具有较小和可变程度，胚癌。我们在没有结肠直肠瘤形成的情况下描述了一个具有MSH6依赖性林基综合征和家族胰腺癌和其他肿瘤（胃子宫内膜）的家庭。方法通过测序，下一代或桑普尔分析患者，以鉴定遗传性癌症基因中的生发病致病变体。结果我们鉴定了MSH6基因致病变异C.2194C> T，p。（Arg732Ter），其具有遗传性胰腺癌的家庭，而无需诊断直肠癌腺癌病例。七位家庭成员受MSH6致病变异的影响。三个有65,57和44岁的胰腺腺癌？一个人在36岁时有子宫内膜癌。剩下的三个科目（75,45和17岁）尚未开发任何癌症。结论林奇综合征应怀疑家族胰腺癌的家庭，即使在没有结肠癌的情况下也是如此。具体而言，我们的观察支持MSH6 C.2194C> T致病变异和骨髓肿瘤之间的关联，表明MSH6致病变异与家族胰腺癌更频繁地相关。

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    Alessandro Mannucci; Raffaella A. Zuppardo; Stefano Crippa; Paola Carrera; Maria G. Patricelli; Annalisa Russo Raucci; Federica Calabrese; Dejan Lazarevic; Francesca Giannese; Giovanni Tonon; Maurizio Ferrari; Pier A. Testoni; Giulia Martina Cavestro;

  • 作者单位

    Division of Experimental Oncology Gastroenterology and Gastrointestinal Endoscopy Unit Vita;

    Division of Experimental Oncology Gastroenterology and Gastrointestinal Endoscopy Unit Vita;

    San Raffaele Hospital Pancreatic Surgery Pancreas Translational and Clinical Research Center;

    Division of Genetics and Cell Biology and Laboratory of Clinical Molecular Biology and Cytogenetics;

    Division of Genetics and Cell Biology and Laboratory of Clinical Molecular Biology and Cytogenetics;

    Division of Genetics and Cell Biology and Laboratory of Clinical Molecular Biology and Cytogenetics;

    Division of Experimental Oncology Gastroenterology and Gastrointestinal Endoscopy Unit Vita;

    Center for Translational Genomics and Bio Informatics-IRCCS Ospedale San Raffaele Scientific;

    Center for Translational Genomics and Bio Informatics-IRCCS Ospedale San Raffaele Scientific;

    Center for Translational Genomics and Bio Informatics-IRCCS Ospedale San Raffaele Scientific;

    Division of Genetics and Cell Biology and Laboratory of Clinical Molecular Biology and Cytogenetics;

    Division of Experimental Oncology Gastroenterology and Gastrointestinal Endoscopy Unit Vita;

    Division of Experimental Oncology Gastroenterology and Gastrointestinal Endoscopy Unit Vita;

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  • 正文语种 eng
  • 中图分类 消化系及腹部疾病;
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