Browsing by Author "Aguayo Bonniard, Gloria Alejandra"
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- ItemDisección submucosa endoscópica en cáncer gástrico incipiente(2015) Galindo R., José; Rodríguez González, Jorge Antonio; Norero Muñoz, Enrique; Aguayo Bonniard, Gloria Alejandra; Pruyas, Martha; Nilsen V., Eva; Martínez Belmar, Cristian Antonio; Báez V., Sergio; Díaz Fernández, Alfonso; Calvo, Oscar
- ItemGastrectomía totalmente laparoscópica por neoplasias gástricas. Experiencia en un centro público(2015) Norero Muñoz, Enrique; Báez Vallejos, Sergio Antonio; Briceño, Eduardo; Martínez Belmar, Cristian Antonio; Ceroni Villanelo, Marco; Escalona, Alex; Aguayo Bonniard, Gloria Alejandra; Calvo, Oscar; Díaz Fernández, Alfonso; Viñuela Fawaz, Eduardo Andrés; González, Paulina; Araos, Fernando
- ItemIdentification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer(2019) Norero Muñoz, Enrique Eduardo; Alarcón Alarcón, María Alejandra; Hakkaart, Cristopher; de Mayo, Tomás; Mellado Sagredo, Cecilia Ximena; Garrido Salvo, Marcelo Adán; Aguayo Bonniard, Gloria Alejandra; Lagos, Marcela; Torres, Javiera; Calvo, Alfonso; Guilford, Parry; Corvalan, Alejandro HGermline 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.
- ItemLipoma gástrico gigante sintomático tratado con gastrectomía subtotal laparoscópica: caso clínico(2013) Olguín, R.; Norero Muñoz, Enrique; Briceño, Eduardo; Martínez Belmar, Cristian Antonio; Viñuela Fawaz, Eduardo Andrés; Báez Vallejos, Sergio Antonio; Aguayo Bonniard, Gloria Alejandra; Calvo, Oscar; Mege, Rosemarie; Díaz Fernández, Alfonso
- ItemLow expression of equilibrative nucleoside transporter 1 is associated with poor prognosis in chemotherapy-naive pT2 gallbladder adenocarcinoma patients(2016) Espinoza, J. A.; García Muñoz, Patricia; Bizama, Carolina; Leal, J. L.; Riquelme, I.; Weber, H.; Macanas Pirard, Patricia; Aguayo Bonniard, Gloria Alejandra; Viñuela Fawaz, Eduardo Andrés; Roa Strauch, Juan Carlos Enrique; Nervi, B.
- ItemTotal esophagogastrectomy plus extended lymphadenectomy with transverse colon interposition: A treatment for extensive esophagogastric junction cancer(2015) Ceroni Villanelo, Marco; Norero Muñoz, Enrique; Henríquez, J. P.; Viñuela, E.; Briceño, Eduardo; Martínez, Constanza; Aguayo Bonniard, Gloria Alejandra; Araos, F.; González, P.; Díaz, A.; Caracci, M.