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Breast Cancer Research
Published in: Breast Cancer Research 6/2006

Open Access 01-12-2006 | Research article

Comprehensive analysis of the ATM, CHEK2 and ERBB2genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study

Authors: Kristjana Einarsdóttir, Lena U Rosenberg, Keith Humphreys, Carine Bonnard, Juni Palmgren, Yuqing Li, Yi Li, Kee S Chia, Edison T Liu, Per Hall, Jianjun Liu, Sara Wedrén

Published in: Breast Cancer Research | Issue 6/2006

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Abstract

Background

Mutations in the ataxia-telangiectasia mutated (ATM) and checkpoint kinase 2 (CHEK2) genes and amplification of the v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (ERBB2) gene have been suggested to have an important role in breast cancer aetiology. However, whether common variation in these genes has a role in the development of breast cancer or breast cancer survival in humans is still not clear.

Methods

We performed a comprehensive haplotype analysis of the ATM, CHEK2 and ERBB2 genes in a Swedish population-based study, which included 1,579 breast cancer cases and 1,516 controls. We followed the cases for 8.5 years, on average, and retrieved information on the date and cause of death during that period from the nationwide Swedish causes of death registry. We selected seven haplotype-tagging SNPs (tagSNPs) in the ATM gene, six tagSNPs in the CHEK2 gene and seven tagSNPs in the ERBB2 gene that predicted both haplotypic and single locus variations in the respective genes with R 2 values ≥ 0.8. These tagSNPs were genotyped in the complete set of cases and controls. We computed expected haplotype dosages of the tagSNP haplotypes and included the dosages as explanatory variables in Cox proportional hazards or logistic regression models.

Results

We found no association between any genetic variation in the ATM, CHEK2 or ERBB2 genes and breast cancer survival or the risk of developing tumours with certain characteristics.

Conclusion

Our results indicate that common variants in the ATM, CHEK2 or ERBB2 genes are not involved in modifying breast cancer survival or the risk of tumour-characteristic-defined breast cancer.
Appendix
Available only for authorised users
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Metadata
Title
Comprehensive analysis of the ATM, CHEK2 and ERBB2genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study
Authors
Kristjana Einarsdóttir
Lena U Rosenberg
Keith Humphreys
Carine Bonnard
Juni Palmgren
Yuqing Li
Yi Li
Kee S Chia
Edison T Liu
Per Hall
Jianjun Liu
Sara Wedrén
Publication date
01-12-2006
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 6/2006
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr1623

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Keynote webinar | Spotlight on antibody–drug conjugates in cancer

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Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
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