CARVAJAL HAUSDORF, DANIEL EDUARDO

Preferred name

Main Affiliation

Facultad de Medicina Clínica Alemana Universidad del Desarrollo

dcarvajal@udd.cl

ORCID

0000-0002-4713-129X

Scopus Author ID

56274228900

Goggle Scholar

https://scholar.google.com/citations?hl=en&user=foFhNssAAAAJ

Now showing 1 - 10 of 23

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Dataset - BioStudies ArrayExpress - Functional Genomics Data
(EMBL’s European Bioinformatics Institute (EMBL-EBI), 2021)
CARVAJAL HAUSDORF, DANIEL EDUARDO
1
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NTRK genomic alterations in Latin-American cancer patients.
(2021)
CARVAJAL HAUSDORF, DANIEL EDUARDO
;
Claudio Salas
;
Katherine Marcelain
;
Francisco Perez
;
Evelin Feliu
<jats:p> e15088 </jats:p><jats:p> Background: The neurotrophic receptor tyrosine kinase genes NTRK1-3 encode the tropomyosin receptor kinase proteins TRKA, TRKB, and TRKC, respectively. TRK fusions lead to overexpression of the chimeric protein, resulting in constitutively active, ligand-independent downstream signaling. NTRKs act as oncogenes, they can be targeted, and it is estimated that they are present in up to 0.3% of tumors. The incidence of actionable alterations in these genes is currently unknown in Latin-American patients. We investigated the presence of NTRK1-3 mutations/rearrangements in 3 independent patient series from several tertiary hospitals from Chile, Brazil and Peru. Methods: 1795 FFPE tumor samples from multiple institutions divided in 3 series were analyzed using 2 NGS panels: Oncomine Focus Assay (OFA; 52 genes) and Oncomine Comprehensive Assay (OCA; 161 genes. Data on NTRK1-3 SNVs, indels, CNVs and fusions was obtained. Bioinformatic workflows were used to study the biologic significance of these alterations. Results: Using OCA (series 1-2), 31 somatic variants were found in gastric, CRC, gallbladder, lung and pancreatic cases out of 300 patients. From these, 13 were located in the tyrosine kinase domain. Using OFA, no NTRK alteration were detected (series 3, 1495 NSCLC cases). Conclusions: NTRK alterations are rare events in Latin-American cancer patients. In 3 series including 1,795 patients, 31 somatic variants were detected. No NTRK fusions or CNVs were identified. The presence of NTRK mutations in the tyrosine kinase domain warrants further research into their potential to benefit from FDA/EMA-approved targeted therapies. [Table: see text] </jats:p>
3
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Dataset - Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers
(Institut für Medizinische Biometrie, Informatik und Epidemiologie, 2023)
CARVAJAL HAUSDORF, DANIEL EDUARDO
2
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Implementation of a platform for objective immunohistochemistry analysis in a tertiary hospital from Chile: a pilot study
(2018)
Ahumada, Viviana
;
Gallegos, Marcela
;
Schultz, Marcela
;
CARVAJAL HAUSDORF, DANIEL EDUARDO
1
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Objective measurement and clinical significance of IDO1 protein in hormone receptor-positive breast cancer
(2017)
CARVAJAL HAUSDORF, DANIEL EDUARDO
;
Nikita Mani
;
Vamsidhar Velcheti
;
Kurt A. Schalper
;
David L. Rimm
4Scopus© Citations 41
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Expresión y amplificación del gen HER2 en el cáncer gástrico avanzado
(2013)
Iván Roa
;
Jeannie Slater
;
Daniel Carvajal
;
Kurt Schalper
;
Gonzalo de Toro
Scopus© Citations 3 1
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"Real world" and objective analysis of PD-L1 immunohistochemistry in transbronchial and EBUS-TBNA samples from NSCLC patients from a Chilean tertiary hospital
(2019)
Yumay Pires
;
Macarena Rodriguez Vial
;
Viviana Ahumada
;
Marcela Schultz
;
CARVAJAL HAUSDORF, DANIEL EDUARDO
1
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Inbreeding and Gallbladder Cancer Risk: Homozygosity Associations Adjusted for Indigenous American Ancestry, BMI, and Genetic Risk of Gallstone Disease
(MDPI AG, 2024-12-17)
Francisco Ceballos
;
Felix Boekstegers
;
Dominique Scherer
;
Carol Barahona Ponce
;
Katherine Marcelain
<jats:p>Latin Americans have a rich genetic make-up that translates into heterogeneous fractions of the autosomal genome in runs of homozygosity (FROH) and heterogeneous types and proportions of indigenous American ancestry. While autozygosity has been linked to several human diseases, very little is known about the relationship between inbreeding, genetic ancestry, and cancer risk in Latin Americans. Chile has one of the highest incidences of gallbladder cancer (GBC) in the world, and we investigated the association between inbreeding, GBC, gallstone disease (GSD), and body mass index (BMI) in 4029 genetically admixed Chileans. We calculated individual FROH above 1.5 Mb and weighted polygenic risk scores for GSD, and applied multiple logistic regression to assess the association between homozygosity and GBC risk. We found that homozygosity was due to a heterogeneous mixture of genetic drift and consanguinity in the study population. Although we found no association between homozygosity and overall GBC risk, we detected interactions of FROH with sex, age, and genetic risk of GSD that affected GBC risk. Specifically, the increase in GBC risk per 1% FROH was 19% in men (p-value = 0.002), 30% in those under 60 years of age (p-value = 0.001), and 12% in those with a genetic risk of GSD above the median (p-value = 0.01). The present study highlighted the complex interplay between inbreeding, genetic ancestry, and genetic risk of GSD in the development of GBC. The applied methodology and our findings underscored the importance of considering the population-specific genetic architecture, along with sex- and age-specific effects, when investigating the genetic basis of complex traits in Latin Americans.</jats:p>
1
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Immune Checkpoint Inhibitor-Associated Pericarditis
(2019)
Mehmet Altan
;
Maria I. Toki
;
Scott N. Gettinger
;
CARVAJAL HAUSDORF, DANIEL EDUARDO
;
Jon Zugazagoitia
Scopus© Citations 77 1
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Implementation of a platform for objective immunohistochemistry analysis in a tertiary hospital from Chile: a pilot study
(2018)
MARCELA GALLEGOS ANGULO
;
MARCELA SCHULTZ HARAMOTO
;
CARVAJAL HAUSDORF, DANIEL EDUARDO
;
Viviana Ahumada
3

CARVAJAL HAUSDORF, DANIEL EDUARDO

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