Identification and molecular characterization of a novel mutation in MSH2 gene in a lynch syndrome family

Bianca Maria Cudia, Attilio Ignazio Lo Monte, Raffaella Liccardo, Francesca Duraturo, Paola Izzo

Risultato della ricerca: Article

Abstract

Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes, including MLH1, MSH2, MSH6, PMS2, MLH3 and MSH3. The molecular characterization of mutations in these MMR genes facilitates the pre-symptomatic diagnosis of subjects at risk to develop a colon cancer or a cancer LS-related. Methods: DHPLC and direct sequencing were performed for the mutation detection analysis. Results: In this study, we identified a novel frame shift mutation, the named is c.170delT in MSH2 gene that determined a premature stop codon and consequently, the formation of a truncated protein (p. Val56Glyfs*7). This is a novel mutation, as it has not been reported before in the international scientific literature. This mutation was found in two subjects (father and son) belonging to a LS family. However, they showed a different phenotype disease. Conclusion: In this study, we identified and characterized a novel MSH2 mutation; moreover, this study reaffirmed the importance of genetic testing in Lynch syndrome.
Lingua originaleEnglish
pagine (da-a)126-130
Numero di pagine5
RivistaEuropean Journal of Oncology
Volume22
Stato di pubblicazionePublished - 2017

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Hereditary Nonpolyposis Colorectal Neoplasms
Mutation
DNA Mismatch Repair
Genes
Literature
Frameshift Mutation
Germ-Line Mutation
Nonsense Codon
Genetic Testing
Nuclear Family
Fathers
Colonic Neoplasms
Phenotype
Neoplasms
Proteins

All Science Journal Classification (ASJC) codes

  • Oncology

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Identification and molecular characterization of a novel mutation in MSH2 gene in a lynch syndrome family. / Cudia, Bianca Maria; Lo Monte, Attilio Ignazio; Liccardo, Raffaella; Duraturo, Francesca; Izzo, Paola.

In: European Journal of Oncology, Vol. 22, 2017, pag. 126-130.

Risultato della ricerca: Article

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author = "Cudia, {Bianca Maria} and {Lo Monte}, {Attilio Ignazio} and Raffaella Liccardo and Francesca Duraturo and Paola Izzo",
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T1 - Identification and molecular characterization of a novel mutation in MSH2 gene in a lynch syndrome family

AU - Cudia, Bianca Maria

AU - Lo Monte, Attilio Ignazio

AU - Liccardo, Raffaella

AU - Duraturo, Francesca

AU - Izzo, Paola

PY - 2017

Y1 - 2017

N2 - Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes, including MLH1, MSH2, MSH6, PMS2, MLH3 and MSH3. The molecular characterization of mutations in these MMR genes facilitates the pre-symptomatic diagnosis of subjects at risk to develop a colon cancer or a cancer LS-related. Methods: DHPLC and direct sequencing were performed for the mutation detection analysis. Results: In this study, we identified a novel frame shift mutation, the named is c.170delT in MSH2 gene that determined a premature stop codon and consequently, the formation of a truncated protein (p. Val56Glyfs*7). This is a novel mutation, as it has not been reported before in the international scientific literature. This mutation was found in two subjects (father and son) belonging to a LS family. However, they showed a different phenotype disease. Conclusion: In this study, we identified and characterized a novel MSH2 mutation; moreover, this study reaffirmed the importance of genetic testing in Lynch syndrome.

AB - Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes, including MLH1, MSH2, MSH6, PMS2, MLH3 and MSH3. The molecular characterization of mutations in these MMR genes facilitates the pre-symptomatic diagnosis of subjects at risk to develop a colon cancer or a cancer LS-related. Methods: DHPLC and direct sequencing were performed for the mutation detection analysis. Results: In this study, we identified a novel frame shift mutation, the named is c.170delT in MSH2 gene that determined a premature stop codon and consequently, the formation of a truncated protein (p. Val56Glyfs*7). This is a novel mutation, as it has not been reported before in the international scientific literature. This mutation was found in two subjects (father and son) belonging to a LS family. However, they showed a different phenotype disease. Conclusion: In this study, we identified and characterized a novel MSH2 mutation; moreover, this study reaffirmed the importance of genetic testing in Lynch syndrome.

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