弱化家族性腺瘤性息肉病，Lynch综合征，遗传性乳腺癌和卵巢癌的三次发生:一个病例报告与治疗和监测的意义

IF 0.8 Q4 GENETICS & HEREDITY

Meta Gene Pub Date : 2022-02-01 DOI:10.1016/j.mgene.2021.101001

Jamie L. Fisher, Amy J. Hale, Russell Gollard

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引用次数: 0

摘要

三种不同的种系致病变异:APC (NM_000038.5)、PMS2 (NM_000535.5)、PALB2 (NM_024675.3)在一个个体中的组合此前未见报道。在这个简短的报告中，我们报告了一个具有上述常染色体显性致病变异阵列的个体。这个人在31岁时患上了第四期结肠癌。三种不同的种系致病变异在决定癌症风险方面的相互作用尚不清楚;随着广泛的基因小组检测的出现，其他多突变基因组肯定会被发现，并将对治疗和监测产生影响。

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Tri-occurrence of attenuated familial adenomatous polyposis, Lynch syndrome, and hereditary breast and ovarian cancer: A case report with implications for treatment and surveillance

The combination of three different germline pathogenic variants: APC (NM_000038.5), PMS2 (NM_000535.5), PALB2 (NM_024675.3) in one individual has not been previously reported. In this brief report, we report an individual with the aforementioned autosomal dominant array of pathogenic variants. This individual was afflicted with stage IV colon cancer at age 31. The interaction of three separate germline pathogenic variants in determining cancer risk is not known; with the advent of widespread genetic panel testing, other multi-mutated genomes will surely be found and will have implications for treatment and surveillance.

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.