Journal article
PIK3CA mutations are frequently observed in BRCAX but not BRCA2 -associated male breast cancer
S Deb, H Do, D Byrne, N Jene, A Dobrovic, SB Fox
Breast Cancer Research | Published : 2013
DOI: 10.1186/bcr3463
Open access
Abstract
Introduction: Although a substantial proportion of male breast cancers (MBCs) are hereditary, the molecular pathways that are activated are unknown. We therefore examined the frequency and clinicopathological associations of the PIK3CA/mammalian target of rapamycin (mTOR) and mitogen-activated protein kinase (MAPK) pathways and their regulatory genes in familial MBC. Methods: High resolution melting analysis and confirmatory sequencing was used to determine the presence of somatic mutations in PIK3CA (exon 9 and 20), AKT1 (exon 4), KRAS (exon 2) and BRAF (exon 15) genes in 57 familial MBCs. Further analysis of the PIK3CA/mTOR pathway was performed using immunohistochemistry for the pAKT1, pS..
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Funding Acknowledgements
We wish to thank all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded 2001 to 2009 by NHMRC and currently by the National Breast Cancer Foundation and Cancer Australia #628333) for their contributions to this resource, and the many families who contribute 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. Those authors belonging to the kConFab investigators team that specifically worked on this study include Heather Thorne (case accrual and database management), Eveline Niedermayr (BOADICEA score generation, data management) and Amber Willems-Jones (BRCA1/2 testing). We also wish to thank the Victorian Cancer Biobank, Victorian Cancer Council, for funding contribution towards the project. We thank Kelly Waldeck, Peter MacCallum Cancer Centre, for donation of the phosphorylated 4EBP1 and pS6 antibodies.