CARVAJAL HAUSDORF, DANIEL EDUARDO

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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>
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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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Dataset - BioStudies ArrayExpress - Functional Genomics Data
(EMBL’s European Bioinformatics Institute (EMBL-EBI), 2021)
CARVAJAL HAUSDORF, DANIEL EDUARDO
1
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Advances in machine learning for tumour classification in cancer of unknown primary: A mini-review
(2025)
Karen Oróstica
;
Felipe Mardones
;
Yanara A. Bernal
;
Samuel Molina
;
Marcos Orchard
Scopus© Citations 3 8
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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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Macrodissection prior to closed system RT-qPCR is not necessary for estrogen receptor and HER2 concordance with IHC/FISH in breast cancer
(2018)
Swati Gupta
;
Navin R. Mani
;
CARVAJAL HAUSDORF, DANIEL EDUARDO
;
Veerle Bossuyt
;
Kenneth Ho
1Scopus© Citations 12
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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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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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Immune Checkpoint Inhibitor-Associated Pericarditis
(2019)
Mehmet Altan
;
Maria I. Toki
;
Scott N. Gettinger
;
CARVAJAL HAUSDORF, DANIEL EDUARDO
;
Jon Zugazagoitia
Scopus© Citations 77 1

CARVAJAL HAUSDORF, DANIEL EDUARDO

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