2012
Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience
Castellví-Bel S, Ruiz-Ponte C, Fernández-Rozadilla C, Abulí A, Muñoz J, Bessa X, Brea-Fernández A, Ferro M, Giráldez MD, Xicola RM, Llor X, Jover R, Piqué JM, Andreu M, Castells A, Carracedo A, Association F. Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience. Mutagenesis 2012, 27: 153-159. PMID: 22294762, DOI: 10.1093/mutage/ger047.Peer-Reviewed Original ResearchConceptsPopulation-based colorectal cancer casesColorectal cancer casesExtensive clinical dataWhole-exome sequencingOncology GroupMulticentre studyColorectal cancerCRC casesControl subjectsFamilial CRCLynch syndromeCRC samplesCancer casesClinical dataFamilial historyCRC familiesGenetic susceptibility variantsCancerGenetic variantsPhase 1Pathways WntCandidate gene approachConsortium experienceSusceptibility variantsGenome-wide association studies
2007
A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening
Bessa X, Ballesté B, Andreu M, Castells A, Bellosillo B, Balaguer F, Castellví–bel S, Paya A, Jover R, Alenda C, Titó L, Martinez–Villacampa M, Vilella A, Xicola RM, Pons E, Llor X, Association G. A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening. Clinical Gastroenterology And Hepatology 2007, 6: 206-214. PMID: 18096441, DOI: 10.1016/j.cgh.2007.10.011.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overAmino Acid SubstitutionColorectal Neoplasms, Hereditary NonpolyposisFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMaleMiddle AgedMutL Protein Homolog 1MutL ProteinsNeoplasm ProteinsNuclear ProteinsPolymorphism, GeneticProspective StudiesProto-Oncogene Proteins B-rafConceptsSporadic colorectal cancerColorectal cancerCRC patientsMMR deficiencyBRAF mutationsV600E mutationGenetic testingGermline mutationsHereditary nonpolyposis colorectal cancerLynch syndrome screeningGermline genetic testingMLH1 germline mutationsPopulation-based studyGene mutation carriersMMR genes MLH1Nonpolyposis colorectal cancerBRAF V600E mutationBRAF mutational analysisMLH1 promoter methylationBRAF mutation analysisBRAF V600E mutation analysisMutation analysisBRAF analysisLynch syndromeFamily history