Enrique Waugh

Heritable genomic diversity in breast cancer driver genes and associations with risk in a Chilean population

Sebastián Morales, Patricio González‐Hormazábal, Julio C. Tapia, Alexis Salas-Burgos et autres

BACKGROUND: Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present study examines the potential association between SNPs in driver genes SF3B1 (rs4685), …

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Germline Variants in Driver Genes of Breast Cancer and Their Association with Familial and Early-Onset Breast Cancer Risk in a Chilean Population

Alejandro Fernández-Moya, Sebastián Morales, Trinidad Arancibia, Patricio González‐Hormazábal et autres

The genetic variations responsible for tumorigenesis are called driver mutations. In breast cancer (BC), two studies have demonstrated that germline mutations in driver genes linked to sporadic tumors may also influence BC risk. The present study evaluates the association between SNPs and …

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Genetic Variants in pre-miR-146a, pre-miR-499, pre-miR-125a, pre-miR-605, and pri-miR-182 Are Associated with Breast Cancer Susceptibility in a South American Population

Sebastián Morales, Tomas de Mayo, Felipe Gulppi, Patricio González‐Hormazábal et autres

Breast cancer (BC) is one of the most frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC susceptibility. We evaluated the association of five SNPs with BC risk in non-carriers of the BRCA1/2-mutation from a South American …

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Common Bile Duct Stone Treated by Simultaneous Laparoscopic and Endoscopic Rendezvous Approach During Cholecystectomy: Analysis of 313 Consecutive Patients

Hugo Richter, Eduardo A. Vega, Carlos Harz, Sergio Fuenzalida et autres

Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population

Sebastián Morales, Felipe Gulppi, Patricio González‐Hormazábal, Ricardo Fernández‐Ramires et autres

BACKGROUND: MicroRNAs (miRNAs) are a novel class of endogenous, non-coding, single-stranded RNAs capable of regulating gene expression by suppressing translation or degrading mRNAs. Single nucleotide polymorphisms (SNP) can alter miRNA expression, resulting in diverse functional consequences. Previous studies have examined the association …

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Linfonodo centinela en cáncer de mama: correlación entre detección isotópica y quirúrgica

Pamela Humeres A, Javiera González, Patrício González, Enrique Waugh et autres

BACKGROUND: Sentinel node detection localizes the first node that drains a malignant lesion aiming to detect tumor dissemination. AIM: To assess the yield of sentinel node detection in breast cancer, using pre or intraoperative scintigraphy. MATERIAL AND METHODS: Review of medical records …

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Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population

Yessica Leyton, Patricio González‐Hormazábal, Rafael Blanco, Teresa Bravo et autres

BACKGROUND: Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer (BC) in several populations. Nevertheless its contribution in the South-American population is unknown. The goal of this study was to determine the prevalence of PALB2 mutations in …

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Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population

Isabel Elematore, Patricio González‐Hormazábal, José Miguel Reyes, Rafael Blanco et autres

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Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population

Lilian Jara, Patricio González‐Hormazábal, Kerube Cerceño, Gabriella A. Di Capua et autres

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Regional Differences in Gallbladder Cancer Pathogenesis: Insights from a Comparison of Cell Cycle-Regulatory, PI3K, and Pro-Angiogenic Protein Expression

Jean Michel Butte, Javiera Torres, Emanuela F. T. Veras, Kenichi Matsuo et autres

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The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population

Patricio González‐Hormazábal, José Miguel Reyes, Rafael Blanco, Teresa Bravo et autres

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Combined total gastrectomy, total esophagectomy, and D2 lymph node dissection with transverse colonic interposition for adenocarcinoma of the gastroesophageal junction

Jean Michel Butte, Enrique Waugh, Hugo Parada, Hernán De La Fuente

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