Journal article

Subtypes of familial breast tumours revealed by expression and copy number profiling

Nic Waddell, Jeremy Arnold, Sibylle Cocciardi, Leonard da Silva, Anna Marsh, Joan Riley, Cameron N Johnstone, Mohammed Orloff, Guillaume Assie, Charis Eng, Lynne Reid, Patricia Keith, Max Yan, Stephen Fox, Peter Devilee, Andrew K Godwin, Frans BL Hogervorst, Fergus Couch, Sean Grimmond, James M Flanagan Show all

Breast Cancer Research and Treatment | SPRINGER | Published : 2010


Extensive expression profiling studies have shown that sporadic breast cancer is composed of five clinically relevant molecular subtypes. However, although BRCA1-related tumours are known to be predominantly basal-like, there are few published data on other classes of familial breast tumours. We analysed a cohort of 75 BRCA1, BRCA2 and non-BRCA1/2 breast tumours by gene expression profiling and found that 74% BRCA1 tumours were basal-like, 73% of BRCA2 tumours were luminal A or B, and 52% non-BRCA1/2 tumours were luminal A. Thirty-four tumours were also analysed by single nucleotide polymorphism-comparative genomic hybridization (SNP-CGH) arrays. Copy number data could predict whether a tumo..

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Awarded by NHMRC

Funding Acknowledgements

We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded by NHMRC grants 145684, 288704 and 454508) for their contributions to this resource, and the many families who contributed to kConFab. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. GCT and KKK are NHMRC Research Fellows. CE holds the Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine at the Cleveland Clinic, is a Doris Duke Distinguished Clinical Scientist and an American Cancer Society Clinical Research Professor. We also wish to thank Jelle Wesseling, pathologist, and Petra Kristel, technician, for helping with the selection of BRCA2 tumours from the Netherlands Cancer Institute. This study was supported by grants from the National Breast Cancer Foundation and the NHMRC.