Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
| Autor: | Vanda Repiská, Behulova R, Katarina Zavodna, Katarína Fabišíková, Petra Priscakova, Olívia Hamidová |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Biallelic Mutation Proband lcsh:QH426-470 MUTYH glycosylase Biology Compound heterozygosity medicine.disease_cause base excision repair Germline 03 medical and health sciences 0302 clinical medicine Germline mutation pathogenic variant MUTYH medicine Genetics case report Genetics (clinical) Mutation Cancer MUTYH gene medicine.disease compound heterozygote lcsh:Genetics 030104 developmental biology germline mutation 030220 oncology & carcinogenesis Molecular Medicine |
| Zdroj: | Frontiers in Genetics Frontiers in Genetics, Vol 11 (2020) |
| ISSN: | 1664-8021 |
| Popis: | MUTYH-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the MUTYH gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA lesions formed by reactive oxygen species (ROS). We report two cases of MAP. In case 1, a 67-year-old woman who presented with a personal history of colorectal and endometrial cancer and a family history of cancer syndromes underwent multigene panel testing that revealed a germline homozygous (biallelic) pathogenic variant c.1187G > A (p.Gly396Asp) in the MUTYH gene. Subsequent sequencing analysis performed in the offspring of the proband identified all three asymptomatic offspring as carriers of this pathogenic variant. In case 2, a 40-year-old woman with a strong family history of colorectal cancer [the proband’s sister was a carrier of the pathogenic variant c.536A > G (p.Tyr179Cys) of the MUTYH gene] and renal cancer underwent sequencing analysis of the MUTYH gene. The pathogenic heterozygous (monoallelic) variant c.536A > G (p.Tyr179Cys) of the MUTYH gene was identified in the proband. We found another pathogenic variant of the MUTYH gene—heterozygous (monoallelic) mutation c.1187G > A (p.Gly396Asp) in the genome of the proband’s husband. Molecular analysis of their offspring revealed that they are compound heterozygotes for MUTYH pathogenic variants c.536A > G (p.Tyr179Cys)/c.1187G > A (p.Gly396Asp). This paper shows the importance of genetic testing of asymptomatic relatives of the proband to ensure an early surveillance and management of individuals positive for pathogenic variant (s) in the MUTYH gene. |
| Databáze: | OpenAIRE |
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