2.50
Hdl Handle:
http://hdl.handle.net/2336/34493
Title:
Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer
Authors:
Sigbjornsdottir, B I; Ragnarsson, G; Agnarsson, B A; Huiping, C; Barkardottir, R B; Egilsson, V; Ingvarsson, S
Citation:
J. Med. Genet. 2000, 37(5):342-7
Issue Date:
1-May-2000
Abstract:
Chromosomal losses involving the short arm of chromosome 8 are frequent in a variety of tumour types, including breast cancer, suggesting the presence of one or more tumour suppressor genes in this region. In this study, we have used 11 microsatellite markers to analyse loss of heterozygosity (LOH) at chromosome 8p in 151 sporadic breast tumours and 50 tumours from subjects carrying the BRCA2 999del5 mutation. Fifty percent of sporadic tumours compared to 78% of BRCA2 linked tumours exhibit LOH at one or more markers at 8p showing that chromosome 8p alterations in breast tumours from BRCA2 999del5 carriers are more pronounced than in sporadic breast tumours. The pattern of LOH is different in the two groups and a higher proportion of BRCA2 tumours have LOH in a large region of chromosome 8p. In the total patient material, LOH of 8p is associated with LOH at other chromosome regions, for example, 1p, 3p, 6q, 7q, 9p, 11p, 13q, 17p, and 20q, but no association is found between LOH at 8p and chromosome regions 11q, 16q, 17q, and 18q. Furthermore, an association is detected between LOH at 8p and positive node status, large tumour size, aneuploidy, and high S phase fraction. Breast cancer patients with LOH at chromosome 8p have a worse prognosis than patients without this defect. Multivariate analysis suggests that LOH at 8p is an independent prognostic factor. We conclude that chromosome 8p carries a tumour suppressor gene or genes, the loss of which results in growth advantage of breast tumour cells, especially in carriers of the BRCA2 999del5 mutation.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://jmg.bmj.com/cgi/content/abstract/37/5/342

Full metadata record

DC FieldValue Language
dc.contributor.authorSigbjornsdottir, B I-
dc.contributor.authorRagnarsson, G-
dc.contributor.authorAgnarsson, B A-
dc.contributor.authorHuiping, C-
dc.contributor.authorBarkardottir, R B-
dc.contributor.authorEgilsson, V-
dc.contributor.authorIngvarsson, S-
dc.date.accessioned2008-08-06T11:02:08Z-
dc.date.available2008-08-06T11:02:08Z-
dc.date.issued2000-05-01-
dc.date.submitted2008-08-06-
dc.identifier.citationJ. Med. Genet. 2000, 37(5):342-7en
dc.identifier.issn0022-2593-
dc.identifier.pmid10807692-
dc.identifier.urihttp://hdl.handle.net/2336/34493-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractChromosomal losses involving the short arm of chromosome 8 are frequent in a variety of tumour types, including breast cancer, suggesting the presence of one or more tumour suppressor genes in this region. In this study, we have used 11 microsatellite markers to analyse loss of heterozygosity (LOH) at chromosome 8p in 151 sporadic breast tumours and 50 tumours from subjects carrying the BRCA2 999del5 mutation. Fifty percent of sporadic tumours compared to 78% of BRCA2 linked tumours exhibit LOH at one or more markers at 8p showing that chromosome 8p alterations in breast tumours from BRCA2 999del5 carriers are more pronounced than in sporadic breast tumours. The pattern of LOH is different in the two groups and a higher proportion of BRCA2 tumours have LOH in a large region of chromosome 8p. In the total patient material, LOH of 8p is associated with LOH at other chromosome regions, for example, 1p, 3p, 6q, 7q, 9p, 11p, 13q, 17p, and 20q, but no association is found between LOH at 8p and chromosome regions 11q, 16q, 17q, and 18q. Furthermore, an association is detected between LOH at 8p and positive node status, large tumour size, aneuploidy, and high S phase fraction. Breast cancer patients with LOH at chromosome 8p have a worse prognosis than patients without this defect. Multivariate analysis suggests that LOH at 8p is an independent prognostic factor. We conclude that chromosome 8p carries a tumour suppressor gene or genes, the loss of which results in growth advantage of breast tumour cells, especially in carriers of the BRCA2 999del5 mutation.en
dc.language.isoenen
dc.publisherBritish Medical Associationen
dc.relation.urlhttp://jmg.bmj.com/cgi/content/abstract/37/5/342en
dc.subject.meshBRCA2 Proteinen
dc.subject.meshBreast Neoplasmsen
dc.subject.meshChromosomes, Human, Pair 8en
dc.subject.meshDNA, Neoplasmen
dc.subject.meshFemaleen
dc.subject.meshGenes, Tumor Suppressoren
dc.subject.meshGerm-Line Mutationen
dc.subject.meshHumansen
dc.subject.meshLoss of Heterozygosityen
dc.subject.meshMicrosatellite Repeatsen
dc.subject.meshMiddle Ageden
dc.subject.meshNeoplasm Proteinsen
dc.subject.meshPolymerase Chain Reactionen
dc.subject.meshPrognosisen
dc.subject.meshSequence Deletionen
dc.subject.meshTranscription Factorsen
dc.titleChromosome 8p alterations in sporadic and BRCA2 999del5 linked breast canceren
dc.typeArticleen
dc.identifier.eissn1468-6244-
dc.contributor.departmentDepartment of Pathology, University Hospital of Iceland, IS-101 Reykjavik, Iceland.en
dc.identifier.journalJournal of medical geneticsen

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