Zaida Garcia-Casado's research while affiliated with Instituto Valenciano de Oncologia and other places

... A literature search performed in December 2023 identified eight studies that contained genomic, exomic, and/or transcriptomic data for AM 4,6,19,[24][25][26][27][28] . Of these articles, four provided sufficient genomic data for the evaluation of changes in copy number, translocations, InDels, gene expression for RTK proteins, and/or structural variants 4,6,19,28 . ...

... HRD testing for prediction of the therapy response can focus on pathogenic variants in genes of the HRR pathway and/or the presence of characteristic genomic scar patterns [16]. Such scar patterns independently predict the response to the drugs mentioned above and to prognosis in ovarian cancer patients [16,[23][24][25]. ...

... Also, in study of Sorin et al. 24 it was described the genomic landscape of patients with lung cancer (n = 997) with NGS in a Canadian hospital, founding a higher prevalence of KRAS mutations (39.2%) compared with most geographical locations, which proved the important to assess institutional rates of actionable driver mutations to help guide governing bodies. 24 On the other hand, Garcia-Casado et al. 25 and Sargas et al. 26 are prospective studies of epithelial ovarian cancer and acute myeloid leukemia, respectively, that provide an extensive molecular characterization, risk stratification, ensuring technical quality and equity in access to NGS studies. 25,26 In non-European countries, the decision analytic model of Matsuda et al. 27 that was used to estimate the budgetary impact of SSG testing versus NGS in newly diagnosed patients with advanced NSCLC in Japan, showing that the adoption of NGS instead of SSG would shorten the average turnaround time of testing (14.32 vs. 18.10, respectively). ...

... This shows the importance of carrying out further studies to characterize better the prognosis of certain lesion subtypes included in this study within the group defined as distal, especially the subungual and plantar lesions, and to include an analysis according to the new WHO histological classification [18]. In this context, plantar mechanical stress has been proposed as a production mechanism, with studies showing differences in the appearance of melanomas in weight-bearing regions of the plantar foot and that, perhaps, this could be a factor that encourages tumor dissemination [19][20][21]. ...

... With regard to the genomic classification of melanomas, there was no propensity for BRAF, NRAS, or NF1 mutations in any of the clinical subgroups in this study, although some authors suggest that BRAF mutations are associated with the nevogenic pathway of melanoma genesis and that NF1, ROS1, GNA11, and RAC1 mutations are associated with CSD-associated melanomas [34]. Our data were not sufficient to validate these findings, as the mutational status was available for only 105 melanomas (BRAF mutant: 44, BRAF wildtype: 61). ...

... Significantly mutated genes included BRAF, CDKN2A, NRAS, and TP53 in NAM, while BRAF, NRAS, and NF1 in AM [3]. And AM more frequently has KIT mutations when compared to NAM [4]. Therefore, AM should be acknowledged as a special subtype. ...

... The effect allele/non-effect allele for LRRC34 is A/T, and the effect allele frequency is 0.76. The effect allele in these two families is present in the heterozygous effect allele, where the odds ratio for the effect allele is previously reported to be 1.076 44 . The rs10936599 variant in MYNN has been previously identified for melanoma risk variants with the effect allele/ non-effect allele is C/T and the effect allele frequency is 0.75 with an odds ratio (95% confidence interval) of 1.06 (1.04-1.08) ...

... Results from genome-wide association studies (GWAS) show that cutaneous melanoma susceptibility is most likely related to a polygenic inheritance pattern [39,40]. Our study focused on a single susceptibility polymorphism and this could be a limitation. ...

... In addition, telomere length was found significantly shortened in chronic myeloid leukemia [6]. However, in most solid tumors such as glioma [7], lung adenocarcinoma [8], neuroblastoma [9], bladder cancer [10], melanoma [11,12], hepatocellular carcinoma [13], and kidney cancer [14], the telomere length was increased compared with normal tissues [15][16][17][18]. ...