@article {17909067,
	title = {Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma},
	journal = {Cancer Res},
	volume = {67},
	number = {19},
	year = {2007},
	note = {Ruiz-Llorente, Sergio Montero-Conde, Cristina Milne, Roger L Moya, Christian M Cebrian, Arancha Leton, Rocio Cascon, Alberto Mercadillo, Fatima Landa, Inigo Borrego, Salud Perez de Nanclares, Guiomar Alvarez-Escola, Cristina Diaz-Perez, Jose Angel Carracedo, Angel Urioste, Miguel Gonzalez-Neira, Anna Benitez, Javier Santisteban, Pilar Dopazo, Joaquin Ponder, Bruce A Robledo, Mercedes Medullary Thyroid Carcinoma Clinical Group Research Support, Non-U.S. Gov{\textquoteright}t United States Cancer research Cancer Res. 2007 Oct 1;67(19):9561-7.},
	pages = {9561-7},
	abstract = {To date, few association studies have been done to better understand the genetic basis for the development of sporadic medullary thyroid carcinoma (sMTC). To identify additional low-penetrance genes, we have done a two-stage case-control study in two European populations using high-throughput genotyping. We selected 417 single nucleotide polymorphisms (SNP) belonging to 69 genes either related to RET signaling pathway/functions or involved in key processes for cancer development. TagSNPs and functional variants were included where possible. These SNPs were initially studied in the largest known series of sMTC cases (n = 266) and controls (n = 422), all of Spanish origin. In stage II, an independent British series of 155 sMTC patients and 531 controls was included to validate the previous results. Associations were assessed by an exhaustive analysis of individual SNPs but also considering gene- and linkage disequilibrium-based haplotypes. This strategy allowed us to identify seven low-penetrance genes, six of them (STAT1, AURKA, BCL2, CDKN2B, CDK6, and COMT) consistently associated with sMTC risk in the two case-control series and a seventh (HRAS) with individual SNPs and haplotypes associated with sMTC in the Spanish data set. The potential role of CDKN2B was confirmed by a functional assay showing a role of a SNP (rs7044859) in the promoter region in altering the binding of the transcription factor HNF1. These results highlight the utility of association studies using homogeneous series of cases for better understanding complex diseases.},
	keywords = {80 and over Carcinoma, Adolescent Adult Aged Aged, Genetic, Genetic Proto-Oncogene Proteins c-ret/*genetics/metabolism Signal Transduction Thyroid Neoplasms/*genetics/metabolism Transcription, Medullary/*genetics/metabolism Case-Control Studies Cyclin-Dependent Kinase Inhibitor p15/biosynthesis/genetics Female Genetic Predisposition to Disease Germ-Line Mutation Haplotypes Humans Male Middle Aged Penetrance Polymorphism, Single Nucleotide Promoter Regions},
	url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve\&db=PubMed\&dopt=Citation\&list_uids=17909067},
	author = {Ruiz-Llorente, S. and Montero-Conde, C. and Milne, R. L. and Moya, C. M. and Cebrian, A. and Leton, R. and Cascon, A. and Mercadillo, F. and Landa, I. and Borrego, S. and Perez de Nanclares, G. and Alvarez-Escola, C. and Diaz-Perez, J. A. and Carracedo, A. and Urioste, M. and Gonzalez-Neira, A. and Benitez, J. and Santisteban, P. and Dopazo, J. and Ponder, B. A. and M. Robledo}
}
@article {15609347,
	title = {A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma},
	journal = {Genes Chromosomes Cancer},
	volume = {42},
	number = {3},
	year = {2005},
	note = {Cascon, Alberto Ruiz-Llorente, Sergio Rodriguez-Perales, Sandra Honrado, Emiliano Martinez-Ramirez, Angel Leton, Rocio Montero-Conde, Cristina Benitez, Javier Dopazo, Joaquin Cigudosa, Juan C Robledo, Mercedes Research Support, Non-U.S. Gov{\textquoteright}t United States Genes, chromosomes \& cancer Genes Chromosomes Cancer. 2005 Mar;42(3):260-8.},
	pages = {260-8},
	abstract = {Although the histologic distinction between pheochromocytomas and head and neck paragangliomas is clear, little is known about the genetic differences between them. To date, various sets of genes have been found to be involved in inherited susceptibility to developing both tumor types, but the genes involved in sporadic pathogenesis are still unknown. To define new candidate regions, we performed CGH analysis on 29 pheochromocytomas and on 24 paragangliomas mainly of head and neck origin (20 of 24), which allowed us to differentiate between the two tumor types. Loss of 3q was significantly more frequent in pheochromocytomas, and loss of 1q appeared only in paragangliomas. We also found gain of 11q13 to be a significantly frequent alteration in malignant cases of both types. In addition, recurrent loss of 8p22-23 was found in 62\% of pheochromocytomas (including all malignant cases) versus in 33\% of paragangliomas, suggesting that this region contains candidate genes involved in the pathogenesis of this abnormality. Using FISH analysis on tissue microarrays, we confirmed genomic deletion of this region in 55\% of pheochromocytomas compared to 12\% of paragangliomas. Loss of 8p22-23 appears to be an important event in the sporadic development of these tumors, and additional molecular studies are necessary to identify candidate genes in this chromosomal region.},
	keywords = {80 and over Child Chromosomes, Adolescent Adrenal Gland Neoplasms/*genetics Adult Aged Aged, Biological/*genetics, Human, Pair 1/genetics Chromosomes, Pair 11/genetics Chromosomes, Pair 3/genetics Chromosomes, Pair 8/genetics Female Gene Deletion Head and Neck Neoplasms/*genetics Humans Male Middle Aged Nucleic Acid Hybridization Paraganglioma/*genetics Pheochromocytoma/*genetics Tumor Markers},
	url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve\&db=PubMed\&dopt=Citation\&list_uids=15609347},
	author = {Cascon, A. and Ruiz-Llorente, S. and Rodriguez-Perales, S. and Honrado, E. and Martinez-Ramirez, A. and Leton, R. and Montero-Conde, C. and Benitez, J. and Dopazo, J. and Cigudosa, J. C. and M. Robledo}
}
@article {15215388,
	title = {PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level},
	journal = {Nucleic Acids Res},
	volume = {32},
	number = {Web Server issue},
	year = {2004},
	note = {Conde, Lucia Vaquerizas, Juan M Santoyo, Javier Al-Shahrour, Fatima Ruiz-Llorente, Sergio Robledo, Mercedes Dopazo, Joaquin England Nucleic acids research Nucleic Acids Res. 2004 Jul 1;32(Web Server issue):W242-8.},
	pages = {W242-8},
	abstract = {We have developed a web tool, PupaSNP Finder (PupaSNP for short), for high-throughput searching for single nucleotide polymorphisms (SNPs) with potential phenotypic effect. PupaSNP takes as its input lists of genes (or generates them from chromosomal coordinates) and retrieves SNPs that could affect the conserved regions that the cellular machinery uses for the correct processing of genes (intron/exon boundaries or exonic splicing enhancers), predicted transcription factor binding sites (TFBS) and changes in amino acids in the proteins. The program uses the mapping of SNPs in the genome provided by Ensembl. Additionally, user-defined SNPs (not yet mapped in the genome) can be easily provided to the program. Also, additional functional information from Gene Ontology, OMIM and homologies in other model organisms is provided. In contrast to other programs already available, which focus only on SNPs with possible effect in the protein, PupaSNP includes SNPs with possible transcriptional effect. PupaSNP will be of significant help in studies of multifactorial disorders, where the use of functional SNPs will increase the sensitivity of identification of the genes responsible for the disease. The PupaSNP web interface is accessible through http://pupasnp.bioinfo.cnio.es.},
	keywords = {Amino Acid Substitution Binding Sites Humans Internet Phenotype *Polymorphism, Genetic, Single Nucleotide RNA Splicing *Software Transcription Factors/metabolism *Transcription},
	url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve\&db=PubMed\&dopt=Citation\&list_uids=15215388},
	author = {L. Conde and Vaquerizas, J. M. and J. Santoyo and Fatima Al-Shahrour and Ruiz-Llorente, S. and M. Robledo and Dopazo, J.}
}
