一种新的致病移码变异的AXIN2在男子息肉病和下颌畸形。

IF 2 4区 医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2023-08-25 DOI:10.1186/s13053-023-00260-6
M F Broekema, E J W Redeker, M T Uiterwaal, L P van Hest
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引用次数: 0

摘要

背景:WNT信号在胚胎发生和组织稳态中起关键作用。异常的WNT信号,由于该通路组分的突变,有助于人类癌症的发生和进展,包括结直肠癌。AXIN2由AXIN2基因编码,是典型WNT信号通路的关键负调控因子和靶点。AXIN2的种系突变与恒牙缺失(缺牙和少牙)以及胃肠道息肉和癌症的易感性有关。数量有限的患者使得准确的基因型-表型分析目前具有挑战性。病例介绍:我们报告一个55岁男性结直肠息肉病和下颌畸形的病例。基因检测证实在AXIN2基因的外显子8上有一个新的移码种系突变。此外,我们提供了文献报道的生殖系AXIN2突变的最新概述。结论:虽然我们的患者缺牙的数量没有以前报道的病例严重,但我们的研究结果提供了额外的证据,证明缺牙和胃肠道肿瘤与罕见的致病性AXIN2种系突变有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.

Background: WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regulator and target of the canonical WNT signaling pathway. Germline mutations in AXIN2 are associated with absence of permanent teeth (hypo- and oligodontia) and predisposition to gastrointestinal polyps and cancer. The limited number of patients makes an accurate genotype-phenotype analysis currently challenging.

Case presentation: We present the case of a 55-year-old male with colorectal polyposis and hypodontia. Genetic testing confirmed a novel frameshift germline mutation in exon 8 of the AXIN2 gene. In addition, we provide an updated overview of germline AXIN2 mutations reported in literature.

Conclusions: Although the number of missing teeth is less severe in our patient than in some previously reported cases, our findings provide additional evidence that missing teeth and gastrointestinal neoplasia are associated with rare pathogenic AXIN2 germline mutations.

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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.
期刊最新文献
BRCA2 germline mutation carrier with five malignancies: a case report. A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives. Breast cancer and ATM mutations: treatment implications. Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2023". Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing.
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