Ben Aissa-Haj Jihenne, Kabbage Maria, Othmen Houcemeddine, Saulnier Patrick, Kettiti Haifa Tounsi, Jaballah-Gabteni Amira, Ferah Azer, Medhioub Mouna, Khsiba Amal, Mahmoudi Moufida, Maaloul Afifa, Ben Nasr Sonia, Chelbi Emna, Abdelhak Sonia, Boubaker M Samir, Azzouz Mohamed Mousaddak, Rouleau Etienne
Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.
Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
Genes (Basel). 2022 Feb 23;13(3):400. doi: 10.3390/genes13030400.
Mutational screening of the CDH1 gene is a standard treatment for patients who fulfill Hereditary Diffuse Gastric Cancer (HDGC) testing criteria. In this framework, the classification of variants found in this gene is a crucial step for the clinical management of patients at high risk for HDGC. The aim of our study was to identify CDH1 as well as CTNNA1 mutational profiles predisposing to HDGC in Tunisia. Thirty-four cases were included for this purpose. We performed Sanger sequencing for the entire coding region of both genes and MLPA (Multiplex Ligation Probe Amplification) assays to investigate large rearrangements of the CDH1 gene. As a result, three cases, all with the HDGC inclusion criteria (8.82% of the entire cohort), carried pathogenic and likely pathogenic variants of the CDH1 gene. These variants involve a novel splicing alteration, a missense c.2281G > A detected by Sanger sequencing, and a large rearrangement detected by MLPA. No pathogenic CTNNA1 variants were found. The large rearrangement is clearly pathogenic, implicating a large deletion of two exons. The novel splicing variant creates a cryptic site. The missense variant is a VUS (Variant with Uncertain Significance). With ACMG (American College of Medical Genetics and Genomics) classification and the evidence available, we thus suggest a revision of its status to likely pathogenic. Further functional studies or cosegregation analysis should be performed to confirm its pathogenicity. In addition, molecular exploration will be needed to understand the etiology of the other CDH1- and CTNNA1-negative cases fulfilling the HDGC inclusion criteria.
对符合遗传性弥漫性胃癌(HDGC)检测标准的患者进行CDH1基因的突变筛查是一种标准治疗方法。在此框架下,对该基因中发现的变异进行分类是HDGC高危患者临床管理的关键步骤。我们研究的目的是确定突尼斯人群中易患HDGC的CDH1以及CTNNA1突变谱。为此纳入了34例病例。我们对两个基因的整个编码区进行了桑格测序,并进行了多重连接探针扩增(MLPA)检测以研究CDH1基因的大片段重排。结果,3例均符合HDGC纳入标准的病例(占整个队列的8.82%)携带了CDH1基因的致病性和可能致病性变异。这些变异包括一种新的剪接改变、通过桑格测序检测到的错义突变c.2281G > A,以及通过MLPA检测到的大片段重排。未发现致病性CTNNA1变异。该大片段重排显然具有致病性,涉及两个外显子的大片段缺失。新的剪接变异产生了一个隐蔽位点。该错义变异是一个意义未明的变异(VUS)。根据美国医学遗传学与基因组学学会(ACMG)的分类及现有证据,我们因此建议将其状态修订为可能致病性。应进行进一步的功能研究或共分离分析以确认其致病性。此外,需要进行分子探索以了解其他符合HDGC纳入标准但CDH1和CTNNA1阴性病例的病因。
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