- Alberto Cascón
- Cristina Rodríguez
- Luís Javier Leandro
- Ángel Mario Martínez
- Cristina Montero
- Bruna Calsina
- Marta Pulgarín
- Juan María Roldán
- María Santos
- Javier Lanillos
- Rocío Letón
Our Group is mainly interested in identifying genetic risk factors involved in endocrine tumour susceptibility. Through a comprehensive analysis of tumour genomic features we have been able to propose diagnostic and prognostic markers to identify altered pathways that could be therapeutically targeted, and to identify new major susceptibility genes.
We are also interested in defining markers associated with differences in anticancer drug response and toxicity. We are applying targeted and whole-exome next-generation sequencing to a large series of clinically well-characterised patients. The aim is to identify new therapeutic approaches to personalise cancer treatment. These efforts will collectively improve the diagnosis, prognosis and treatment of patients.
- A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk.(2018)
Cancer Res 78, 5419-5430.
- Whole Exome Sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.(2018)
Int J Cancer 143, 1954-1962.
- A Genetic Polymorphism in CTLA-4 Is Associated with Overall Survival in Sunitinib-Treated Patients with Clear Cell Metastatic Renal Cell Carcinoma.(2018)
Clin Cancer Res 24, 2350-2356.
- Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.(2018)
Genet Med 20, 1652-1662.
- Gain-of-function mutations in DNMT3A in patients with paraganglioma.(2018)
Genet Med 20, 1644-1651.
- Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.(2018)
Genet Med (in press).
- Prognostic and predictive biomarkers for somatostatin analogs, peptide receptor radionuclide therapy and serotonin pathway targets in neuroendocrine tumours.(2018)
Cancer Treat Rev 70, 209-222.
- Characterization of neuroendocrine tumors in heterozygous mutant MENX rats: a novel model of invasive medullary thyroid carcinoma.(2018)
Endocr-Relat Cancer 25, 145-162.
- Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation.(2018)
Bmc Cancer 18, 561-.
- Influence of donor liver CYP3A4*20 loss-of-function genotype on tacrolimus pharmacokinetics in transplanted patients.(2018)
Pharmacogenet Genomics 28, 41-48.
- Novel copy-number variations in pharmacogenes contribute to interindividual differences in drug pharmacokinetics(2018)
Genet Med 20, 622-629.
- Expression of contactin 4 is associated with malignant behavior in pheochromocytomas and paragangliomas.(2018)
J Clin Endocrinol Metab 103, 46-55.
- Increased global DNA hypomethylation in distant metastatic and dedifferentiated thyroid cancer.(2018)
J Clin Endocrinol Metab 103, 397-406.
- Concomitant medications and risk of chemotherapy-induced peripheral neuropathy.(2018)
Oncologist (in press).
- Biallelic TSC2 mutations in a patient with chromophobe renal cell carcinoma showing extraordinary response to temsirolimus.(2018)
J Natl Compr Canc Netw 16, 352-358.
- Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.(2018)
Eur J Endocrinol 178, K1-K9.
- Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.(2018)
Clin Genet 93, 1049-1056.
- Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.(2018)
Med Clin-Barcelona 151, 80-.
- Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging(2018)
ENDOCR CONNECT (in press).
- Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.(2017)
Nat Genet 49, 680-691.
- Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.(2017)
Nat. Rev. Endocrinol. 13, 233-247.
- Targeted sequencing reveals low-frequency variants in EPHA genes as markers of paclitaxel-induced peripheral neuropathy.(2017)
Clin Cancer Res 23, 1227-1235.
- Multilayer OMIC data in medullary thyroid carcinoma identifies the STAT3 pathway as a potential therapeutic target in RETM918T tumors.(2017)
Clin Cancer Res 23, 1334-1345.
- Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.(2017)
Clin Cancer Res 23, 6315-6324.
- mTOR Pathway Mutations and Response to Rapalogs in RCC-Letter.(2017)
Clin Cancer Res 23, 5320-.
- Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas.(2017)
J Clin Endocrinol Metab 102, 1122-1132.
- Meta-analysis on the association of VEGFR1 genetic variants with sunitinib outcome in metastatic renal cell carcinoma patients.(2017)
Oncotarget 8, 1204-1212.
- PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.(2017)
J Mol Diagn 9, 575-588.
- Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.(2017)
JAMA Dermatol 15, 1298-1301.
- The mTORC1 Complex Is Significantly Overactivated in SDHX-Mutated Paragangliomas.(2017)
Neuroendocrinology 105, 384-393.
- Exceptional Response to Temsirolimus in a Metastatic Clear Cell Renal Cell Carcinoma With an Early Novel MTOR-Activating Mutation.(2017)
J Natl Compr Canc Netw 15, 1310-1315.
- APLP2, RRM2 and PRC1: new putative markers for the differential diagnosis of thyroid follicular lesions.(2017)
Thyroid 27, 59-66.
- Sunitinib induced hypertension in CYP3A4 rs4646437 A-allele carriers with metastatic renal cell carcinoma.(2017)
Pharmacogenomics J 17, 42-46.
- Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer.(2017)
PLoS ONE 12, e0180192-.
- Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy.(2017)
Bmc Cancer 17, 63-.
- Evaluation of KDR rs34231037 as a predictor of sunitinib efficacy in patients with metastatic renal cell carcinoma.(2017)
Pharmacogenet Genomics 27, 227-231.
- Description of the EuroTARGET cohort: A European collaborative project on TArgeted therapy in renal cell cancer-GEnetic- and tumor-related biomarkers for response and toxicity.(2017)
Urol Oncol-Semin Ori 35, 59-0.
- Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.(2017)
Clin Biochem Rev 8, 69-100.
- Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.(2016)
Oncotarget 7, 25815-25825.
- ATRX driver mutation in a composite malignant pheochromocytoma.(2016)
Cancer Genet 209, 272-277.
- Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.(2016)
Hum Mol Genet 25, 1836-1845.
- Epigenetic mutation of the Succinate Dehydrogenase C Promoter in a Patient with two Paragangliomas(2016)
J Clin Endocrinol Metab 101, 359-363.
- Quantification of Unmethylated Alu (QUAlu): a tool to assess global hypomethylation in routine clinical samples.(2016)
Oncotarget 7, 10536-10546.
- SNPs associated with activity and toxicity of cabazitaxel in patients with advanced urothelial cell carcinoma.(2016)
Pharmacogenomics 17, 463-471.
- Human genetics: international projects and personalized medicine.(2016)
Drug Metabolism and Personalized Therapy 31, 3-8.
- Deep sequencing reveals microRNAs predictive of antiangiogenic drug response.(2016)
JCI Insight 7, e86051-.
- Pituitary adenoma associated with pheochromocytoma/paraganglioma: A new form of multiple endocrine neoplasia.(2016)
Endocrinol Nutr 63, 506-508.
- The Molecular Registry of Pituitary Adenomas (REMAH): A bet of Spanish Endocrinology for the future of individualized medicine and translational research.(2016)
Endocrinol Nutr 63, 274-284.
- Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma.(2016)
ENDOCRINOLOGY, DIABETES & METABOLISM CASE REPORTS 2016, 150117-.
- Progress in pharmacogenetics: consortiums and new strategies.(2016)
Drug Metabolism and Personalized Therapy 31, 17-23.
- The role of pharmacogenetics and pharmacogenomics in 21st-century medicine.(2016)
Drug Metabolism and Personalized Therapy 31, 1-2.
- Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients.(2015)
Breast Cancer Res Treat 149, 385-394.
- Tumor MicroRNA Expression Profiling Identifies Circulating MicroRNAs for Early Breast Cancer Detection.(2015)
Clin Chem 61, 1098-1106.
- DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset.(2015)
Mol Carcinogen (in press).
- Classifying early-onset colorectal cancer according to tumor location: new potential subcategories to explore.(2015)
Am J Cancer Res 5, 2308-2313.
- CYP3A5 and ABCB1 Polymorphisms as Predictors for Sunitinib Outcome in Metastatic Renal Cell Carcinoma.(2015)
Eur Urol 68, 621-629.
- Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene.(2015)
J Natl Cancer I 107, djv053-.
- Whole-Exome Sequencing Reveals Defective CYP3A4 Variants Predictive of Paclitaxel Dose-Limiting Neuropathy.(2015)
Clin Cancer Res 21, 322-328.
- Replication of Genetic Polymorphisms Reported to Be Associated with Taxane-Related Sensory Neuropathy in Patients with Early Breast Cancer Treated with Paclitaxel–letter.(2015)
Clin Cancer Res 21, 3092-3093.
- DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers.(2015)
Clin Cancer Res 21, 3020-3030.
- Pazopanib in pretreated advanced neuroendocrine tumors: a phase II, open-label trial of the Spanish Task Force Group for Neuroendocrine Tumors (GETNE)†.(2015)
Ann Oncol 26, 1987-1993.
- Oncogenic features of the bone morphogenic protein 7 (BMP7) in pheochromocytoma.(2015)
Oncotarget 6, 39111-39126.
- Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.(2015)
J Med Genet 52, 647-656.
- MicroRNA deep-sequencing reveals master regulators of follicular and papillary thyroid tumors.(2015)
Mod Pathol 28, 748-757.
- SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).(2015)
Mod Pathol 28, 807-821.
- Pharmacogenomic biomarkers for personalized cancer treatment.(2015)
J Intern Med 277, 201-217.
- Functional and in silico assessment of MAX variants of unknown significance.(2015)
J Mol Med-Jmm 93, 1247-1255.
- Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.(2015)
Int J Cancer 137, 1870-1878.
- IL8 polymorphisms and overall survival in pazopanib- or sunitinib-treated patients with renal cell carcinoma.(2015)
Br J Cancer 112, 1190-1198.
- The association of pituitary adenomas and phaeochromocytomas or paragangliomas.(2015)
Endocr-Relat Cancer 22, T105-T122.
- High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme.(2015)
Pharmacogenomics J 15, 288-292.
- Immunohistochemical expression of stem cell markers in pheochromocytomas/paragangliomas is associated with SDHx mutations.(2015)
Eur J Endocrinol 173, 43-52.
- Lack of Utility of SDHB Mutation Testing in Adrenergic Metastatic Phaeochromocytoma.(2015)
Eur J Endocrinol 172, 89-95.
- Role of cytochrome P450 2C8*3 (CYP2C8*3) in paclitaxel metabolism and paclitaxel-induced neurotoxicity.(2015)
Pharmacogenomics 16, 929-937.
- Renal carcinoma pharmacogenomics and predictors of response: Steps toward treatment individualization.(2015)
Urol Oncol-Semin Ori 33, 179-186.
- Association of single nucleotide polymorphisms in IL8 and IL13 with sunitinib-induced toxicity in patients with metastatic renal cell carcinoma.(2015)
Eur J Pharmacol 71, 1477-1484.
- Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.(2015)
Int J Endocrinol 0, 138573-.
- A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia.(2014)
Eur J Hum Genet 22, 423-426.
- Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.(2014)
Hum Mol Genet 23, 2440-2446.
- H-RAS mutations are restricted to sporadic pheochromocytomas lacking specific clinical or pathological features: data from a multi-institutional series.(2014)
J Clin Endocrinol Metab 99, E1376-E1380.
- Krebs Cycle Metabolite Profiling for Identification and Stratification of Pheochromocytomas/Paragangliomas due to Succinate Dehydrogenase Deficiency.(2014)
J Clin Endocrinol Metab 99, 3903-3911.
- DNA methylation profiling of well-differentiated thyroid cancer uncovers markers of recurrence free survival.(2014)
Int J Cancer 135, 598-610.
- Opposing effects of HIF1a and HIF2a on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X.(2014)
Int J Cancer 135, 2054-2064.
- VEGF, VEGFR3 and PDGFRB protein expression is influenced by RAS mutations in medullary thyroid carcinoma.(2014)
Thyroid 24, 1251-1255.
- Oxaliplatin induced-neuropathy in digestive tumors.(2014)
Crit Rev Oncol Hematol 89, 166-178.
- Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report.(2014)
Histopathology 65, 712-717.
- Identification of tissue microRNAs predictive of sunitinib activity in patients with metastatic renal cell carcinoma.(2014)
PLoS ONE 9, e86263-.
- Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.(2013)
Endocr-Relat Cancer 20, 477-493.
- Short telomeres are frequent in hereditary breast tumors and are associated with high tumor grade.(2013)
Breast Cancer Res Treat 141, 231-242.
- An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.(2013)
PLoS ONE 8, e74765-.
- SIRT1 promotes thyroid carcinogenesis driven by PTEN deficiency.(2013)
Oncogene 32, 4052-4056.
- Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma.(2013)
Ann Oncol 24, 2409-2414.
- Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.(2013)
Hum Mol Genet 22, 2169-2176.
- DNA methylation signatures identify biologically distinct thyroid cancer subtypes.(2013)
J Clin Endocrinol Metab 98, 2811-2821.
- Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.(2013)
J Med Genet 50, 599-605.
- Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients.(2013)
Endocr-Relat Cancer 20, L1-L6.
- Influence of RET mutations on the expression of tyrosine kinases in medullary thyroid carcinoma.(2013)
Endocr-Relat Cancer 20, 611-619.
- Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions.(2013)
Am J Pathol 182, 356-362.
- Molecular markers to predict response to therapy.(2013)
Semin Oncol 40, 444-458.
- Usefulness of negative and weak-diffuse pattern of SDHB immunostaining in assessment of SDH mutations in paragangliomas and pheochromocytomas.(2013)
Endocr Pathol 24, 199-205.
- Hereditary pheochromocytoma and paraganglioma: the disease with ten faces.(2013)
Med Clin-Barcelona 140, 451-452.