Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer

2.50
Hdl Handle:
http://hdl.handle.net/2336/47037
Title:
Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer
Authors:
Huiping, C; Sigurgeirsdottir, J R; Jonasson, J G; Eiriksdottir, G; Johannsdottir, J T; Egilsson, V; Ingvarsson, S
Citation:
Br. J. Cancer 1999, 81(7):1103-10
Issue Date:
1-Dec-1999
Abstract:
We have studied a set of 40 human lobular breast cancers for loss of heterozygosity (LOH) at various chromosome locations and for mutations in the coding region plus flanking intron sequences of the E-cadherin gene. We found a high frequency of LOH (100%, 31/31) at 16q21-q22.1. A significantly higher level of LOH was detected in ductal breast tumours at chromosome arms 1p, 3p, 9p, 11q, 13q and 18q compared to lobular breast tumours. Furthermore, we found a significant association between LOH at 16q containing the E-cadherin locus and lobular histological type. Six different somatic mutations were detected in the E-cadherin gene, of which three were insertions, two deletions and one splice site mutation. Mutations were found in combination with LOH of the wild type E-cadherin locus and loss of or reduced E-cadherin expression detected by immunohistochemistry. The mutations described here have not previously been reported. We compared LOH at different chromosome regions with E-cadherin gene mutations and found a significant association between LOH at 13q and E-cadherin gene mutations. A significant association was also detected between LOH at 13q and LOH at 7q and 11q. Moreover, we found a significant association between LOH at 3p and high S phase, LOH at 9p and low ER and PgR content, LOH at 17p and aneuploidy. We conclude that LOH at 16q is the most frequent chromosome alteration and E-cadherin is a typical tumour suppressor gene in lobular breast cancer.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1038/sj.bjc.6690815

Full metadata record

DC FieldValue Language
dc.contributor.authorHuiping, C-
dc.contributor.authorSigurgeirsdottir, J R-
dc.contributor.authorJonasson, J G-
dc.contributor.authorEiriksdottir, G-
dc.contributor.authorJohannsdottir, J T-
dc.contributor.authorEgilsson, V-
dc.contributor.authorIngvarsson, S-
dc.date.accessioned2009-01-05T11:50:42Z-
dc.date.available2009-01-05T11:50:42Z-
dc.date.issued1999-12-01-
dc.date.submitted2009-01-05-
dc.identifier.citationBr. J. Cancer 1999, 81(7):1103-10en
dc.identifier.issn0007-0920-
dc.identifier.pmid10584868-
dc.identifier.doi10.1038/sj.bjc.6690815-
dc.identifier.urihttp://hdl.handle.net/2336/47037-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractWe have studied a set of 40 human lobular breast cancers for loss of heterozygosity (LOH) at various chromosome locations and for mutations in the coding region plus flanking intron sequences of the E-cadherin gene. We found a high frequency of LOH (100%, 31/31) at 16q21-q22.1. A significantly higher level of LOH was detected in ductal breast tumours at chromosome arms 1p, 3p, 9p, 11q, 13q and 18q compared to lobular breast tumours. Furthermore, we found a significant association between LOH at 16q containing the E-cadherin locus and lobular histological type. Six different somatic mutations were detected in the E-cadherin gene, of which three were insertions, two deletions and one splice site mutation. Mutations were found in combination with LOH of the wild type E-cadherin locus and loss of or reduced E-cadherin expression detected by immunohistochemistry. The mutations described here have not previously been reported. We compared LOH at different chromosome regions with E-cadherin gene mutations and found a significant association between LOH at 13q and E-cadherin gene mutations. A significant association was also detected between LOH at 13q and LOH at 7q and 11q. Moreover, we found a significant association between LOH at 3p and high S phase, LOH at 9p and low ER and PgR content, LOH at 17p and aneuploidy. We conclude that LOH at 16q is the most frequent chromosome alteration and E-cadherin is a typical tumour suppressor gene in lobular breast cancer.en
dc.language.isoenen
dc.publisherNature Publishing Group on behalf of Cancer Research UKen
dc.relation.urlhttp://dx.doi.org/10.1038/sj.bjc.6690815en
dc.subject.meshBreast Neoplasmsen
dc.subject.meshCadherinsen
dc.subject.meshChromosome Aberrationsen
dc.subject.meshChromosome Disordersen
dc.subject.meshChromosome Mappingen
dc.subject.meshFemaleen
dc.subject.meshHumansen
dc.subject.meshImmunohistochemistryen
dc.subject.meshLoss of Heterozygosityen
dc.subject.meshMutationen
dc.subject.meshPolymerase Chain Reactionen
dc.subject.meshPolymorphism, Single-Stranded Conformationalen
dc.subject.meshSequence Analysis, DNAen
dc.titleChromosome alterations and E-cadherin gene mutations in human lobular breast canceren
dc.typeArticleen
dc.identifier.eissn1532-1827-
dc.contributor.departmentDepartment of Pathology, National University Hospital, Reykjavik, Iceland.en
dc.identifier.journalBritish journal of canceren

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