缺乏Amsterdam II或Bethesda标准的林奇综合征患者的诊断。

IF 2 4区 医学 Q3 ONCOLOGY
Miguel Angel Trujillo-Rojas, María de la Luz Ayala-Madrigal, Melva Gutiérrez-Angulo, Anahí González-Mercado, José Miguel Moreno-Ortiz
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引用次数: 0

摘要

背景:林奇综合征(Lynch Syndrome,LS)是一种常染色体显性遗传疾病,其特征是由于错配修复系统基因的致病性变异而导致的癌症遗传易感性。根据家族史,通过实施阿姆斯特丹II和修订后的贝塞斯达标准来发现病例。主体:符合标准的患者接受后验,如种系DNA测序,以确认诊断。然而,这些标准的敏感性较差,因为超过四分之一的LS患者不符合标准。标准缺乏敏感性很可能是由于该综合征的外显率不完全所致。发生特定类型癌症的外显率和风险高度依赖于受影响的基因和可能的变体。低渗透基因变异的患者患与LS相关的癌症的风险较低,导致家庭的几代人未受影响,显示出较少的明确模式。本研究的重点是描述LS病例的遗传方面,这些遗传方面是用于诊断LS的临床标准缺乏敏感性的原因。结论:普遍筛查可能是解决诊断不足问题的一种选择。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria.

Background: Lynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cancer, caused by pathogenic variants in the genes of the mismatch repair system. Cases are detected by implementing the Amsterdam II and the revised Bethesda criteria, which are based on family history.

Main body: Patients who meet the criteria undergo posterior tests, such as germline DNA sequencing, to confirm the diagnosis. However, these criteria have poor sensitivity, as more than one-quarter of patients with LS do not meet the criteria. It is very likely that the lack of sensitivity of the criteria is due to the incomplete penetrance of this syndrome. The penetrance and risk of developing a particular type of cancer are highly dependent on the affected gene and probably of the variant. Patients with variants in low-penetrance genes have a lower risk of developing a cancer associated with LS, leading to families with unaffected generations and showing fewer clear patterns. This study focuses on describing genetic aspects of LS cases that underlie the lack of sensitivity of the clinical criteria used for its diagnosis.

Conclusion: Universal screening could be an option to address the problem of underdiagnosis.

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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
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