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dc.contributor.authorHoban, Paul R
dc.contributor.authorHeighway, Jim
dc.contributor.authorWhite, Gavin R M
dc.contributor.authorBaker, Bartrum W
dc.contributor.authorGardner, J
dc.contributor.authorBirch, Jillian M
dc.contributor.authorMorris-Jones, Pat H
dc.contributor.authorKelsey, Anna M
dc.date.accessioned2010-04-27T11:27:39Z
dc.date.available2010-04-27T11:27:39Z
dc.date.issued1995-06
dc.identifier.citationGenome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient. 1995, 95 (6):651-6 Hum. Genet.en
dc.identifier.issn0340-6717
dc.identifier.pmid7789950
dc.identifier.doi10.1007/BF00209482
dc.identifier.urihttp://hdl.handle.net/10541/97440
dc.description.abstractA patient with Beckwith-Wiedemann syndrome (BWS) presented with Wilms' tumour. Examination of the nephrectomy specimen showed, in addition to the tumour, the presence of nephrogenic rests. Nephrogenic rests are thought to be precursor lesions from which a Wilms' tumour may develop. A molecular analysis examining the loss of constitutional heterozygosity (LOCH), initially for chromosome 11, was performed on peripheral blood, the normal kidney, nephrogenic rest and tumour material. The study was extended to include markers from all 23 chromosomes. At each informative, locus, LOCH of the maternal allele was shown in the nephrogenic rest and tumour material. In addition, the normal kidney displayed allele imbalance. It would appear from these results that either extensive LOCH across the genome was an early genetic event in the development of malignancy in this patient or that the tumour and rest developed from cells containing no maternal chromosomes. The apparent LOCH seen in the normal kidney sample implies that full reduction to homozygosity is consistent with a histologically normal appearance. Putative mechanisms to explain this phenomenon are discussed.
dc.language.isoenen
dc.subjectKidney Canceren
dc.subjectWilms Tumouren
dc.subject.meshAlleles
dc.subject.meshBeckwith-Wiedemann Syndrome
dc.subject.meshChromosomes, Human, Pair 11
dc.subject.meshFemale
dc.subject.meshGene Deletion
dc.subject.meshGenome, Human
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshKidney Neoplasms
dc.subject.meshPloidies
dc.subject.meshPolymerase Chain Reaction
dc.subject.meshPolymorphism, Restriction Fragment Length
dc.subject.meshPrecancerous Conditions
dc.subject.meshRepetitive Sequences, Nucleic Acid
dc.subject.meshWilms Tumor
dc.titleGenome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient.en
dc.typeArticleen
dc.contributor.departmentCRC Department of Cancer Genetics, Paterson Institute of Cancer Research, Christie (CRC) Research Trust, Manchester, UK.en
dc.identifier.journalHuman Geneticsen
html.description.abstractA patient with Beckwith-Wiedemann syndrome (BWS) presented with Wilms' tumour. Examination of the nephrectomy specimen showed, in addition to the tumour, the presence of nephrogenic rests. Nephrogenic rests are thought to be precursor lesions from which a Wilms' tumour may develop. A molecular analysis examining the loss of constitutional heterozygosity (LOCH), initially for chromosome 11, was performed on peripheral blood, the normal kidney, nephrogenic rest and tumour material. The study was extended to include markers from all 23 chromosomes. At each informative, locus, LOCH of the maternal allele was shown in the nephrogenic rest and tumour material. In addition, the normal kidney displayed allele imbalance. It would appear from these results that either extensive LOCH across the genome was an early genetic event in the development of malignancy in this patient or that the tumour and rest developed from cells containing no maternal chromosomes. The apparent LOCH seen in the normal kidney sample implies that full reduction to homozygosity is consistent with a histologically normal appearance. Putative mechanisms to explain this phenomenon are discussed.


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