Search results for "Allelotype"

showing 2 items of 2 documents

Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?

2007

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…

MaleCancer ResearchSettore MED/06 - Oncologia MedicaPopulationBRCA1 breast cancerBreast NeoplasmsBiologyRisk AssessmentAllelotype AnalysisReference ValuesHumansAlleleeducationSicilySequence DeletionOvarian NeoplasmsGeneticseducation.field_of_studyBRCA1 ProteinHaplotypeFounder Effectlanguage.human_languagePedigreeOncologyMutationMutation (genetic algorithm)languageMicrosatelliteFemaleSicilianMicrosatellite RepeatsFounder effect
researchProduct

4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).

2007

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…

MaleBRCA1 gene Founder mutation Haplotype analysis Hereditary breast and ovarian cancer Sicilian patientsSettore MED/06 - Oncologia MedicaGenetic counselingPopulationDNA Mutational AnalysisGenes BRCA1Single-nucleotide polymorphismBreast NeoplasmsBiologyBRCA1 geneHaplotype analysiHumansAlleleeducationAllelotypeFounder mutationSicilyGeneticsOvarian Neoplasmseducation.field_of_studyHaplotypeHematologylanguage.human_languageFounder EffectPedigreeOncologyHaplotypesHaplotype frequencylanguageFemaleSicilianGene DeletionFounder effectGenetic counselingMicrosatellite Repeats
researchProduct