Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families

Autor: LILIAN JARA, SANDRA AMPUERO, EUDOCIA SANTIBÁÑEZ, LORENA SECCIA, JUAN RODRÍGUEZ, MARIO BUSTAMANTE, GUILLERMO LAY-SON, JOSÉ MANUEL OJEDA, JOSÉ MIGUEL REYES, RAFAEL BLANCO

Publikováno v: Biological Research, Vol 37, Iss 3, Pp 469-481 (2004)

BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have

Externí odkaz: https://doaj.org/article/4e18848a367c48d9a8bd30cf52f79ef6

BRCA1 and BRCA2 mutations in a South American population

Autor: Jose M. Reyes, Victor D. Martinez, Eudocia Santibáñez, Guillermo Lay-Son, Rafael Blanco, Sandra Ampuero, Juan Ramón Oreja Rodríguez, Alejandra Catenaccio, Lilian Jara, Mario Bustamante, Lorena Seccia

Publikováno v: Cancer Genetics and Cytogenetics. 166:36-45

A sample of 64 high-risk breast and/or ovarian cancer families from Chile were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIN no. 113705) and BRCA2 (MIN no. 600185) genes using conformation-sensitive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3cd786572969342949c542b50bd0fd0
https://doi.org/10.1016/j.cancergencyto.2005.08.019

DNA methylation profile in diffuse type gastric cancer: evidence for hypermethylation of the BRCA1 promoter region in early-onset gastric carcinogenesis

Autor: Alejandro H. Corvalan, Jorge Argandoña, Julio Urrutia, Luis Felipe Zavala, Francisco Aguayo, Eudocia Santibáñez, Carolina Bernal, Mariana Palma, Francisco J. Ossandon, Claudia Backhouse, Macarena Vargas, Víctor Luengo

Publikováno v: Biological Research v.41 n.3 2008
SciELO Chile
CONICYT Chile
instacron:CONICYT
Biological Research, Vol 41, Iss 3, Pp 303-315 (2008)
Biological Research, Volume: 41, Issue: 3, Pages: 303-315, Published: 2008

Diffuse type gastric carcinoma is the most aggressive type of gastric cáncer. This type of tumor is not preceded by precancerous changes and is associated with early-onset and hereditary syndromes. To test the hypothesis that DNA methylation profile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd0e1cc7fa4bdaeeb2a29625ab89aa8
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602008000300007

Frecuencia de la mutación 185delAG en el gen BRCA1 en mujeres chilenas sanas con antecedentes familiares de cáncer de mama

Autor: Rafael Blanco, Jose M. Reyes, Lilian Jara, Eudocia Santibáñez, Lorena Seccia, Mario Bustamante, Sandra Ampuero, José Manuel Ojeda

Publikováno v: Revista médica de Chile. 130

Background: Breast cancer is the most common malignancy among women, and is the second cause of cancer mortality among Chilean women. Female mortality due to breast cancer in Chile has shown a steady increase from 9.5 deaths per 100.000 women in 1985

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::906758b5fe3cb1348b28841f50b2eafd
https://doi.org/10.4067/s0034-98872002001000005

Expression and regulation of scavenger receptor class B type I (SR-BI) in human and murine gallbladder epithelial cells

Autor: Ivan Wistuba, Attilio Rigotti, Ludwig Amigo, Mauricio Moreno, Eudocia Santibáñez, Juan Francisco Miquel

Publikováno v: Gastroenterology. 118:A926

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bee170cec4b4571fcd0697a82cfd3ecd
https://doi.org/10.1016/s0016-5085(00)85842-4