Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7055
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Type: | Journal article |
Title: | Frequency of the ATM IVS10-6T -> G variant in Australian multiple-case breast cancer families |
Author: | Lindeman, G. Hiew, M. Visvader, J. Leary, J. Field, M. Gaff, C. McKinlay Gardner, R. Trainor, K. Cheetham, G. Suthers, G. Kirk, J. |
Citation: | Breast Cancer Research, 2004; 6(4):R401-R407 |
Publisher: | Biomed Central Ltd |
Issue Date: | 2004 |
ISSN: | 1465-5411 1465-542X |
Statement of Responsibility: | 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 |
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. |
Keywords: | ATM BRCA1 breast cancer hereditary predisposition IVS10-6T→G |
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. |
DOI: | 10.1186/bcr806 |
Published version: | http://dx.doi.org/10.1186/bcr806 |
Appears in Collections: | Aurora harvest Paediatrics publications |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
hdl_7055.pdf | Published version | 111.55 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.