{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:01:10Z","timestamp":1760144470648,"version":"build-2065373602"},"reference-count":62,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ANID","award":["ACT210079","FONIS SA20I0059","FONDEF IT16I10051","FONDEF ID21I10355","FONDAP 152220002","#13CEE2-21602"],"award-info":[{"award-number":["ACT210079","FONIS SA20I0059","FONDEF IT16I10051","FONDEF ID21I10355","FONDAP 152220002","#13CEE2-21602"]}]},{"name":"CORFO International Center of Excellence Program","award":["ACT210079","FONIS SA20I0059","FONDEF IT16I10051","FONDEF ID21I10355","FONDAP 152220002","#13CEE2-21602"],"award-info":[{"award-number":["ACT210079","FONIS SA20I0059","FONDEF IT16I10051","FONDEF ID21I10355","FONDAP 152220002","#13CEE2-21602"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Colorectal cancer (CRC) is the second leading cause of cancer deaths globally. While ethnic differences in driver gene mutations have been documented, the South American population remains understudied at the genomic level, despite facing a rising burden of CRC. We analyzed tumors of 40 Chilean CRC patients (Chp) using next-generation sequencing and compared them to data from mainly Caucasian cohorts (TCGA and MSK-IMPACT). We identified 388 mutations in 96 out of 135 genes, with TP53 (45%), KRAS (30%), PIK3CA (22.5%), ATM (20%), and POLE (20%) being the most frequently mutated. TSC2 mutations were associated with right colon cancer (44.44% in RCRC vs. 6.45% in LCRC, p-value = 0.016), and overall frequency was higher compared to TCGA (p-value = 1.847 \u00d7 10\u22125) and MSK-IMPACT cohorts (p-value = 3.062 \u00d7 10\u22122). Limited sample size restricts definitive conclusions, but our data suggest potential differences in driver mutations for Chilean patients, being that the RTK-RAS oncogenic pathway is less affected and the PI3K pathway is more altered in Chp compared to TCGA (45% vs. 25.56%, respectively). The prevalence of actionable pathways and driver mutations can guide therapeutic choices, but can also impact treatment effectiveness. Thus, these findings warrant further investigation in larger Chilean cohorts to confirm these initial observations. Understanding population-specific driver mutations can guide the development of precision medicine programs for CRC patients.<\/jats:p>","DOI":"10.3390\/ijms25094695","type":"journal-article","created":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T05:13:41Z","timestamp":1714108421000},"page":"4695","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis"],"prefix":"10.3390","volume":"25","author":[{"given":"Camilo","family":"Tapia-Valladares","sequence":"first","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Valenzuela","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelin","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Gen\u00f3mica, Instituto de Ciencias e Innovaci\u00f3n en Medicina, Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Santiago 7610507, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8660-2779","authenticated-orcid":false,"given":"Ignacio","family":"Maureira","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Departamento de Tecnolog\u00eda M\u00e9dica, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7813-1380","authenticated-orcid":false,"given":"Jessica","family":"Toro","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Centro para la Prevenci\u00f3n y Control del C\u00e1ncer, CECAN, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mat\u00edas","family":"Freire","sequence":"additional","affiliation":[{"name":"CORFO Center of Excellence in Precision Medicine, Pfizer Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gonzalo","family":"Sep\u00falveda-Hermosilla","sequence":"additional","affiliation":[{"name":"CORFO Center of Excellence in Precision Medicine, Pfizer Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diego","family":"Ampuero","sequence":"additional","affiliation":[{"name":"CORFO Center of Excellence in Precision Medicine, Pfizer Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3491-6898","authenticated-orcid":false,"given":"Alejandro","family":"Blanco","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Gen\u00f3mica, Instituto de Ciencias e Innovaci\u00f3n en Medicina, Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Santiago 7610507, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iv\u00e1n","family":"Gallegos","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Centro para la Prevenci\u00f3n y Control del C\u00e1ncer, CECAN, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Departamento de Patolog\u00eda, Hospital Cl\u00ednico de la Universidad de Chile, Santiago 8380453, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda","family":"Morales","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2898-0541","authenticated-orcid":false,"given":"Jos\u00e9 I.","family":"Erices","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3013-2106","authenticated-orcid":false,"given":"Olga","family":"Barajas","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Centro para la Prevenci\u00f3n y Control del C\u00e1ncer, CECAN, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Departamento de Medicina Interna, Hospital Cl\u00ednico de la Universidad de Chile, Santiago 8380453, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Ahumada","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Centro para la Prevenci\u00f3n y Control del C\u00e1ncer, CECAN, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Departamento de Medicina Interna, Hospital Cl\u00ednico de la Universidad de Chile, Santiago 8380453, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4012-2662","authenticated-orcid":false,"given":"H\u00e9ctor R.","family":"Contreras","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Centro para la Prevenci\u00f3n y Control del C\u00e1ncer, CECAN, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0324-2948","authenticated-orcid":false,"given":"Jaime","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-0521","authenticated-orcid":false,"given":"Ricardo","family":"Armis\u00e9n","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Gen\u00f3mica, Instituto de Ciencias e Innovaci\u00f3n en Medicina, Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Santiago 7610507, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4018-6623","authenticated-orcid":false,"given":"Katherine","family":"Marcelain","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda B\u00e1sico Cl\u00ednico, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile"},{"name":"Centro para la Prevenci\u00f3n y Control del C\u00e1ncer, CECAN, Universidad de Chile, Santiago 8380000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3322\/caac.21660","article-title":"Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries","volume":"71","author":"Sung","year":"2021","journal-title":"CA Cancer J Clin."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Sawicki, T., Ruszkowska, M., Danielewicz, A., Nied\u017awiedzka, E., Ar\u0142ukowicz, T., and Przyby\u0142owicz, K.E. 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