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Transcription-Coupled Repair Promotes the Retention of Mutations in Coding Regions During Replication Stress
(MDPI AG, 2026-01-23)
Evelyn Zambrano
;
Cristopher Fierro
;
Fernanda Morales
;
Marcia Manterola
;
Arnaldo Marin
Replication stress (RS) is a primary driver of genomic instability in cancer, yet the contribution of transcription-coupled repair (TC-NER) to this process remains unclear. Here, we investigate how the TC-NER factor ERCC6 (CSB) shapes mutational landscapes under RS. We found that ERCC6 deficiency biases early damage signaling toward a 53BP1-mediated response, ultimately leading to senescence. Conversely, ERCC6-proficient cells prioritize survival and proliferative recovery but at the expense of distinct genomic alterations. Whole-exome sequencing reveals that ERCC6 proficiency is associated with the retention of stress-induced mutations specifically within coding regions of transcriptionally active loci, whereas ERCC6-deficient cells accumulate variants primarily in intergenic regions. These findings suggest that while ERCC6 safeguards transcriptional continuity during RS, its activity is associated with a biased retention of stress-induced mutations within coding regions in the surviving cell population. These findings reveal a previously unrecognized link between transcription-coupled repair and mutation distribution in human cells, linking TC-NER to context-dependent somatic evolution and tumor heterogeneity.
18
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The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population
(Frontiers Media SA, 2025-10-03)
José Ignacio Erices
;
Evelin González
;
Marcela Salgado
;
Carol Barahona-Ponce
;
Matías Freire
1
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SKI regulates rRNA transcription and pericentromeric heterochromatin to ensure centromere integrity and genome stability
(Elsevier BV, 2025-09)
Víctor Pola-Véliz
;
David Carrero
;
Eduardo A. Sagredo
;
Víctor Inostroza
;
Claudio Cappelli
1
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Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis
(2024)
Camilo Tapia-Valladares
;
Guillermo Valenzuela
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Evelin González Feliú
;
Ignacio Maureira
;
Jessica Toro
<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 × 10−5) and MSK-IMPACT cohorts (p-value = 3.062 × 10−2). 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>
Scopus© Citations 1 2
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Immune-related IncRNA LINC00944 responds to variations in ADAR1 levels and it is associated with breast cancer prognosis
(2021)
Pamela R. de Santiago
;
Alejandro Blanco
;
Fernanda Morales
;
Katherine Marcelain
;
Olivier Harismendy
2Scopus© Citations 38
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Increase in ADAR1p110 activates the canonical Wnt signaling pathway associated with aggressive phenotype in triple negative breast cancer cells
(2022)
Fernanda Morales
;
Paola Pérez
;
Julio C. Tapia
;
Lorena Lobos-González
;
José Manuel Herranz
2Scopus© Citations 12

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