Salgado, J. (Josefa)
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- Thymidylate synthase polymorphisms in genomic DNA as clinical outcome predictors in a European population of advanced non-small cell lung cancer patients receiving pemetrexed(BioMed Central, 2014) Gil-Bazo, I. (Ignacio); Patiño-García, A. (Ana); Arevalo, E. (Estefanía); Rodriguez-Ruiz, M.E. (María Esperanza); Castañon, E. (Eduardo); Santisteban, M. (Marta); Rolfo, C. (Christian); Zubiri, L. (Leire); Lopez, I. (Inés); Salgado, J. (Josefa); Martin, P. (Patricia); Collado, V. (Víctor)BACKGROUND: We studied whether thymidylate synthase (TS) genotype has an independent prognostic/predictive impact on a European population of advanced non-small cell lung cancer (NSCLC) patients receiving pemetrexed. METHODS: Twenty-five patients treated with pemetrexed-based regimens were included. Genomic DNA was isolated prior to treatment. The variable number of tandem repeat (VNTR) polymorphisms, the G > C single nucleotide polymorphisms (SNP) and the TS 6-bp insertion/deletion (6/6) in the 3' untranslated region (UTR) polymorphisms were analyzed and correlated with overall response rate (ORR), progression-free survival (PFS), overall-survival (OS) and toxicity. RESULTS: The genotype +6/+6 predicted a higher ORR among active/former smokers compared to +6/-6 genotype (100% vs. 50%; p = 0.085). Overall, the 3R/3R genotype predicted a higher ORR (100%) over the rest VNTR polymorphisms (p = 0.055). The presence of 3R/3R genotype significantly correlated with a superior ORR in patients without EGFR activating mutations (100%) compared to 2R/2R, 2R/3R and 3R/4R genotype (77.8%, 33.3% and 0% respectively; p = 0.017). After a median follow-up of 21 months, a trend towards a better PFS, although not significant, was found among subjects showing 3R/3R polymorphisms (p = 0.089). A significantly superior OS was found in patients showing 3R/3R genotype rather than other VNTR polymorphisms (p = 0.019). No significant correlation with the toxicity was observed. CONCLUSION: In our series, 3R/3R polymorphism correlated with a superior OS. Also, this polymorphism, when associated to wild type EGFR, was related to a higher ORR to pemetrexed. Toxicity was not significantly correlated with a specific TS genotype.
- KRAS mutational status analysis of peripheral blood isolated circulating tumor cells in metastatic colorectal patients(Spandidos, 2013) Patiño-García, A. (Ana); Rodriguez, J. (Javier); Gutierrez, C. (Cristina); Garcia-Foncillas, J. (Jesús); Salgado, J. (Josefa)The present study describes an optimized method for isolating peripheral blood circulating tumor cells (CTCs) and performing KRAS mutation analysis. The approach combines isolation of peripheral blood mononuclear cells and immunomagnetic labeling with CD45 and CD326 human microbeads with KRAS analysis performed with a Therascreen KRAS kit by quantitative PCR. KRAS mutations were detected in the CTCs of patients with metastatic colorectal cancer (mCRC). CTCs may represent an alternative to invasive procedures and their analysis may be representative of the current disease status of the patient. This proposed analysis may be performed in a daily clinical practice.
- A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation(Spandidos, 2011-09-01) Gil, C. (Carmen); Gutierrez, C. (Cristina); Garcia-Foncillas, J. (Jesús); Aramendia, J.M. (J.M.); Salgado, J. (Josefa); Robles, M. (Maitane)We report a novel BRCA1 germline 4156delAA mutation detected in a 41-year-old woman with breast and ovarian cancer. Genomic DNA was obtained from peripheral blood. Standard polymerase chain reactions and direct sequencing were performed. This mutation originates a premature stop at codon 1354 of BRCA1 protein and has not been documented in any published report to the best of our knowledge. The mutation was not observed in any other family studied. Since this novel mutation was associated with both breast and ovarian cancer, the genotype-phenotype correlation was investigated in a patient base of 30 families.
- Review: mitochondrial defects in breast cancer(Libertas Academica, 2008) Garcia-Foncillas, J. (Jesús); Honorato-Cía, B. (Beatriz); Salgado, J. (Josefa)Mitochondria play important roles in cellular energy metabolism, free radical generation, and apoptosis. Mitochondrial DNA has been proposed to be involved in carcinogenesis because of its high susceptibility to mutations and limited repair mechanisms in comparison to nuclear DNA. Breast cancer is the most frequent cancer type among women in the world and, although exhaustive research has been done on nuclear DNA changes, several studies describe a variety of mitochondrial DNA alterations present in breast cancer. In this review article, we to provide a summary of the mitochondrial genomic alterations reported in breast cancer and their functional consequences.
- A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report(Spandidos Publications, 2013) Patiño-García, A. (Ana); Gil, C. (Carmen); Viedma, A. (Adriana); Gutierrez, C. (Cristina); Santisteban, M. (Marta); Salgado, J. (Josefa); Robles, M. (Maitane)Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000, leading to a truncated BRCA1 protein. To the best of our knowledge, this mutation has not been previously described in the Breast Cancer Information Core (BIC) database or the published literature