Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer

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dc.catalogadorgrr
dc.contributor.authorNorero Muñoz, Enrique Eduardo
dc.contributor.authorAlarcón Alarcón, María Alejandra
dc.contributor.authorHakkaart, Cristopher
dc.contributor.authorde Mayo, Tomás
dc.contributor.authorMellado Sagredo, Cecilia Ximena
dc.contributor.authorGarrido Salvo, Marcelo Adán
dc.contributor.authorAguayo Bonniard, Gloria Alejandra
dc.contributor.authorLagos, Marcela
dc.contributor.authorTorres, Javiera
dc.contributor.authorCalvo, Alfonso
dc.contributor.authorGuilford, Parry
dc.contributor.authorCorvalan, Alejandro H
dc.date.accessioned2024-01-17T18:42:04Z
dc.date.available2024-01-17T18:42:04Z
dc.date.issued2019
dc.description.abstractGermline pathogenic variants in the CDH1 gene are a well-established cause of hereditary diffuse gastric cancer (HDGC) syndrome. The aim of this study was to characterize CDH1 mutations associated with HDGC from Chile, a country with one of the highest incidence and mortality rates in the world for gastric cancer (GC). Here, we prospectively include probands with family history/early onset of diffuse-type of GC. The whole coding sequence of the CDH1 gene was sequenced from genomic DNA in all patients, and a multidisciplinary team managed each family member with a pathogenic sequence variant. Thirty-six cases were included (median age 44 years/male 50%). Twenty-seven (75%) patients had diffuse-type GC at <= 50 years of age and 19 (53%) had first or second-degree family members with a history of HDGC. Two cases (5.5%) carried a non-synonymous germline sequence variant in the CDH1 gene: (a) The c.88C>A missense variant was found in a family with three diffuse-type GC cases; and (b) c.1531C>T a nonsense pathogenic variant was identified in a 22-year-old proband with no previous family history of HDGC. Of note, six family members carry the same nonsense pathogenic variant. Prophylactic gastrectomy in the proband's sister revealed stage I signet-ring cell carcinoma. The finding of 1531C>T pathogenic variant in the CDH1 in proband with no previous family history of HDGC warrants further study to uncover familial clustering of disease in CDH1 negative patients. This finding may be particularly relevant in high incidence countries, such as the case in this report.
dc.fechaingreso.objetodigital2024-01-17
dc.format.extent11 páginas
dc.fuente.origenORCID-ene24
dc.identifier.doi10.3390/ijms20204980
dc.identifier.issn1661-6596
dc.identifier.pubmedid31600923
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829381/
dc.identifier.urihttps://doi.org/10.3390/ijms20204980
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80551
dc.identifier.wosidWOS:000498822800012
dc.information.autorucMedicina;Alejandro H Corvalana;S/I;63885
dc.information.autorucEscuela de Medicina; Norero Muñoz, Enrique Eduardo; 0000-0002-6262-4930; 14479
dc.information.autorucFacultad de Ciencias Biológicas; Alarcón Alarcón, María Alejandra; S/I; 155072
dc.information.autorucEscuela de Medicina; Mellado Sagredo, Cecilia Ximena ; 0000-0002-6032-4651; 1002671
dc.information.autorucEscuela de Medicina; Garrido Salvo, Marcelo Adán; 0000-0001-8905-8986; 7260
dc.information.autorucEscuela de Medicina; Aguayo Bonniard, Gloria Alejandra; 0000-0002-5625-1664; 102092
dc.issue.numero4980
dc.language.isoen
dc.nota.accesoContenido completo
dc.revistaInternational Journal of Molecular Sciences
dc.rightsacceso abierto
dc.rights.licenseAtribución 4.0 Internacional (CC BY 4.0)
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/deed.es
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleIdentification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer
dc.typeartículo
sipa.codpersvinculados63885
sipa.codpersvinculados14479
sipa.codpersvinculados155072
sipa.codpersvinculados1002671
sipa.codpersvinculados7260
sipa.codpersvinculados102092
sipa.trazabilidadORCID;2024-01-15
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