0000000000313271

AUTHOR

L. De Lellis

showing 2 related works from this author

Analysis of extended genomic rearrangements in oncological research.

2007

Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes. Several methods were developed for analysis of structural genomic abnormalities, some are targeted to the analysis of one or few specific loci, others are designed to scan the whole genome. Locus-specific methods are used when the candidate loci responsible for the specific pathological condition are known. Whole-genome methods are used to discover loci bearing structural abnormalities when the disease-associated locus is unknown. Three main approaches have been employed for the analysis of locus-specific structural changes. The first two a…

GeneticsChromosome AberrationsGene RearrangementRecombination GeneticHybridization probecopy number gene dosage locus-specific molecular diagnosis mutation detection structural variationsGenomicsHematologyGene rearrangementGenomicsBiologyMolecular Inversion ProbeMedical OncologyOncologyNeoplasmsMultiplex polymerase chain reactionHumansMultiplexGenotypingSNP arrayAnnals of oncology : official journal of the European Society for Medical Oncology
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Patterns of K-ras mutation in colorectal carcinomas from Iran and Italy (a Gruppo Oncologico dell'Italia Meridionale study): influence of microsatell…

2006

Background: K-ras mutations are a key step in colorectal cancer progression. Such mutations have been widely studied in case series from Western countries but there are few data on the rate and spectrum of mutations in tumors from countries where the epidemiological features of the disease are different. Patients and methods: Tumor samples from 182 Iranian colorectal cancer patients (170 sporadic cases and 12 HNPCC cases) were screened for K-ras mutations at codons 12, 13 and 61 by sequencing analysis. The cases were also characterized for microsatellite instability at mononucleotide repeats by PCR and fragment analysis, and classified according to microsatellite instability status. The fre…

OncologyMalemedicine.medical_specialtyK-ras mutationsColorectal cancerHNPCCDiseaseK-ras mutationIranmedicine.disease_causecolorectal carcinomaInternal medicineEpidemiologymedicineHumansCodoncolorectal carcinoma; HNPCC; gene-environment interaction; K-ras mutations; MSI; Iran; ItalyMSIGeneticsMutationbusiness.industryMicrosatellite instabilityHematologymedicine.diseasegene-environment interactionGenes rasOncologyItalyRAS MutationMutationFemaleMicrosatellite InstabilitybusinessColorectal Neoplasms
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