Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7055
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dc.contributor.author | Lindeman, G. | - |
dc.contributor.author | Hiew, M. | - |
dc.contributor.author | Visvader, J. | - |
dc.contributor.author | Leary, J. | - |
dc.contributor.author | Field, M. | - |
dc.contributor.author | Gaff, C. | - |
dc.contributor.author | McKinlay Gardner, R. | - |
dc.contributor.author | Trainor, K. | - |
dc.contributor.author | Cheetham, G. | - |
dc.contributor.author | Suthers, G. | - |
dc.contributor.author | Kirk, J. | - |
dc.date.issued | 2004 | - |
dc.identifier.citation | Breast Cancer Research, 2004; 6(4):R401-R407 | - |
dc.identifier.issn | 1465-5411 | - |
dc.identifier.issn | 1465-542X | - |
dc.identifier.uri | http://hdl.handle.net/2440/7055 | - |
dc.description | © 2004 Lindeman et al.; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL. | - |
dc.description.abstract | BACKGROUND: Germline mutations in the genes BRCA1 and BRCA2 account for only a proportion of hereditary breast cancer, suggesting that additional genes contribute to hereditary breast cancer. Recently a heterozygous variant in the ataxia–telangiectasia mutated (ATM) gene, IVS10-6T→G, was reported by an Australian multiple-case breast cancer family cohort study (the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer) to confer a substantial breast cancer risk. Although this variant can result in a truncated ATM product, its clinical significance as a high-penetrance breast cancer allele or its role as a low-penetrance risk-modifier is controversial. METHODS: We determined the frequency of ATM IVS10-6T→G variants in a cohort of individuals affected by breast and/or ovarian cancer who underwent BRCA1 and BRCA2 genetic testing at four major Australian familial cancer clinics. RESULTS: Seven of 495 patients (1.4%) were heterozygous for the IVS10-6T→G variant; the carrier rate in unselected Australian women with no family history of breast cancer is reported to be 6 of 725 (0.83%) (P = 0.4). Two of the seven probands also harboured a pathogenic BRCA1 mutation and one patient had a BRCA1 unclassified variant of uncertain significance. CONCLUSION: These findings indicate that the ATM IVS10-6T→G variant does not seem to occur at a significantly higher frequency in affected individuals from high-risk families than in the general population. A role for this variant as a low-penetrance allele or as a modifying gene in association with other genes (such as BRCA1) remains possible. Routine testing for ATM IVS10-6T→G is not warranted in mutation screening of affected individuals from high-risk families. | - |
dc.description.statementofresponsibility | Geoffrey J Lindeman, Melody Hiew, Jane E Visvader, Jennifer Leary, Michael Field, Clara L Gaff, RJ McKinlay Gardner, Kevin Trainor, Glenice Cheetham, Graeme Suthers and Judy Kirk | - |
dc.language.iso | en | - |
dc.publisher | Biomed Central Ltd | - |
dc.source.uri | http://dx.doi.org/10.1186/bcr806 | - |
dc.subject | ATM | - |
dc.subject | BRCA1 | - |
dc.subject | breast cancer | - |
dc.subject | hereditary predisposition | - |
dc.subject | IVS10-6T→G | - |
dc.title | Frequency of the ATM IVS10-6T -> G variant in Australian multiple-case breast cancer families | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1186/bcr806 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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hdl_7055.pdf | Published version | 111.55 kB | Adobe PDF | View/Open |
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