Journal article

Morphological predictors of BRCA1 germline mutations in young women with breast cancer

MC Southey, SJ Ramus, JG Dowty, LD Smith, AA Tesoriero, EEM Wong, GS Dite, MA Jenkins, GB Byrnes, I Winship, K-A Phillips, GG Giles, JL Hopper



BACKGROUND: Knowing a young woman with newly diagnosed breast cancer has a germline BRCA1 mutation informs her clinical management and that of her relatives. We sought an optimal strategy for identifying carriers using family history, breast cancer morphology and hormone receptor status data. METHODS: We studied a population-based sample of 452 Australian women with invasive breast cancer diagnosed before age 40 years for whom we conducted extensive germline mutation testing (29 carried a BRCA1 mutation) and a systematic pathology review, and collected three-generational family history and tumour ER and PR status. Predictors of mutation status were identified using multiple logistic regressi..

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Awarded by National Cancer Institute, National Institutes of Health

Awarded by University of Melbourne


Funding Acknowledgements

The Australian Breast Cancer Family Registry was supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia) and the National Cancer Institute, National Institutes of Health under RFA-CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry (CFR) and PIs. The University of Melbourne (U01 CA69638) contributed data to this study. The content of this paper does not necessarily reflect the views or the policies of the National Cancer Institute or any of the collaborating centres in the CFR, nor does mention of trade names, commercial products or organisations imply endorsement by the US Government or the CFR. We extend our thanks to the many women and their families who generously participated in the Australian Breast Cancer Family Registry and consented to us accessing their pathology material. We also thank the many study staff who made this work possible, the study Pathologists, Jane Armes, Deon Venter, Elena Provenzano, Sarbar Napaki and Beena Kumar, who worked to review and score the material presented in the study and Veronika Gazdik and Simon Royce for their expert technical support. JLH is a National Health and Medical Research Council Australia Fellow. MCS is a National Health and Medical Research Council Senior Research Fellow. JLH and MCS are both group leaders of the Victoria Breast Cancer Research Consortium. KAP is the Cancer Council Victoria Dr John Colebatch Clinical Research Fellow.