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首页> 外文期刊>Familial cancer >A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report
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A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report

机译：Peutz-Jeghers综合征的报告致病变异的一课：案例报告

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摘要

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased risk of various malignancies. Pathogenic variants in the LKB1 tumor suppressor gene (also known as STK11) are the major cause of PJS. In this study, compound heterozygous variants of LKB1, c.890G > A/ c.1062C > G and del(exon1)/ c.1062C > G, were identified in two sporadic Chinese PJS cases respectively. Although all these three variants had been related to the autosomal dominant PJS in previous studies, all evidences collected in this study including de novo data, segregation data, population data, in-silico data, and functional data indicated that del(exon1) and c.890G > A are pathogenic in these two PJS families rather than c.1062C > G. This finding would contribute to genetic counseling for individuals carrying the variant c.1062C > G with or without PJS phenotypes. Moreover, this finding reminds genetic counselors that it is necessary to reevaluate the pathogenicity of reported variants in a known Mendelian disorder in order to avoid a misleading decision.
机译：Peutz-jeghers综合征（pjs）是一种稀有的常血散性显性障碍，其特征是粘膜皮肤过度沉着，胃肠道（gi）hamartmatous息肉，以及各种恶性肿瘤的风险增加。 LKB1肿瘤抑制基因（也称为STK11）的致病变体是PJ的主要原因。在该研究中，在两种散发性中国PJS病例中鉴定了LKB1，C.890g> A / C.1062C> G和Del（Exon1）/ C.1062C> G的化合物杂合变体。虽然所有这三种变种与先前研究中的常染色体显性PJ有关，但本研究中收集的所有证据包括De Novo数据，隔离数据，人口数据，硅中数据和功能数据表明Del（Exon1）和C .890g> A在这两个PJS家族中是致病性，而不是C.1062C> G.该发现将有助于遗传咨询，用于携带变体C.1062C> G的个体有或没有PJS表型。此外，这一发现提醒遗传辅导员，即必须重新评估报告的孟德尔疾病中报告的变种的致病性，以避免误导性决定。

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  • 来源
    《Familial cancer》 |2017年第3期|共6页
  • 作者

    Tan Hu; Wei Xianda; Yang Pu; Huang Yanru; Li Haoxian; Liang Desheng; Wu Lingqian;

  • 作者单位

    Cent S Univ State Key Lab Med Genet 110 Xiangya Rd Changsha 410078 Hunan Peoples R China;

    Cent S Univ State Key Lab Med Genet 110 Xiangya Rd Changsha 410078 Hunan Peoples R China;

    Cent S Univ State Key Lab Med Genet 110 Xiangya Rd Changsha 410078 Hunan Peoples R China;

    Cent S Univ State Key Lab Med Genet 110 Xiangya Rd Changsha 410078 Hunan Peoples R China;

    Cent S Univ State Key Lab Med Genet 110 Xiangya Rd Changsha 410078 Hunan Peoples R China;

    Cent S Univ State Key Lab Med Genet 110 Xiangya Rd Changsha 410078 Hunan Peoples R China;

    Cent S Univ State Key Lab Med Genet 110 Xiangya Rd Changsha 410078 Hunan Peoples R China;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 肿瘤学;
  • 关键词

    Peutz-Jeghers syndrome; LKB1; Variant; Pathogenicity; Genetic counseling;

    机译：Peutz-jeghers综合征;LKB1;变体;致病性;遗传咨询;

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