Tri-occurrence of attenuated familial adenomatous polyposis, Lynch syndrome, and hereditary breast and ovarian cancer: A case report with implications for treatment and surveillance
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引用次数: 0
Abstract
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.
Meta GeneBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
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.
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