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Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals

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 r...

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Autores principales: Fabišíková, Katarína, Hamidová, Olívia, Behulová, Regína Lohajová, Závodná, Katarína, Priščáková, Petra, Repiská, Vanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7770176/
https://www.ncbi.nlm.nih.gov/pubmed/33384714
http://dx.doi.org/10.3389/fgene.2020.590486
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author Fabišíková, Katarína
Hamidová, Olívia
Behulová, Regína Lohajová
Závodná, Katarína
Priščáková, Petra
Repiská, Vanda
author_facet Fabišíková, Katarína
Hamidová, Olívia
Behulová, Regína Lohajová
Závodná, Katarína
Priščáková, Petra
Repiská, Vanda
author_sort Fabišíková, Katarína
collection PubMed
description 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.
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spelling pubmed-77701762020-12-30 Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals Fabišíková, Katarína Hamidová, Olívia Behulová, Regína Lohajová Závodná, Katarína Priščáková, Petra Repiská, Vanda Front Genet Genetics 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. Frontiers Media S.A. 2020-12-15 /pmc/articles/PMC7770176/ /pubmed/33384714 http://dx.doi.org/10.3389/fgene.2020.590486 Text en Copyright © 2020 Fabišíková, Hamidová, Behulová, Závodná, Priščáková and Repiská. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Fabišíková, Katarína
Hamidová, Olívia
Behulová, Regína Lohajová
Závodná, Katarína
Priščáková, Petra
Repiská, Vanda
Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
title Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
title_full Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
title_fullStr Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
title_full_unstemmed Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
title_short Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
title_sort case report: the role of molecular analysis of the mutyh gene in asymptomatic individuals
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7770176/
https://www.ncbi.nlm.nih.gov/pubmed/33384714
http://dx.doi.org/10.3389/fgene.2020.590486
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