Journal article
Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations
S Deb, SQ Wong, J Li, H Do, J Weiss, D Byrne, A Chakrabarti, T Bosma, A Fellowes, A Dobrovic, SB Fox
BRITISH JOURNAL OF CANCER | NATURE PUBLISHING GROUP | Published : 2014
DOI: 10.1038/bjc.2014.511
Abstract
BACKGROUND: Male breast cancer (MBC) is still poorly understood with a large proportion arising in families with a history of breast cancer. Genomic studies have focused on germline determinants of MBC risk, with minimal knowledge of somatic changes in these cancers. METHODS: Using a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 BRCA1 germline mutant, 17 BRCA2 germline mutant and 28 BRCAX) for hotspot somatic mutations and copy number changes in 48 common cancer genes. RESULTS: Twelve missense mutations included nine PIK3CA mutations (seven in BRCAX patients), two TP53 mutations (both in BRCA2 patients) and one PTEN mutation. Common gains were seen in GNAS (34.1%) an..
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Awarded by National Breast Cancer Foundation and Cancer Australia
Awarded by National Breast Cancer Foundation
Funding Acknowledgements
We 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 2001-2009 by NHMRC and currently by the National Breast Cancer Foundation and Cancer Australia No. 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 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. Siddhartha Deb received a postgraduate scholarship from the NHMRCS. Stephen Fox and Alexander Dobrovic received funding from the National Breast Cancer Foundation.