It is over 10 years since the identification of BRCA1 and BRCA2, and over 5000 papers have been published on these prototypic breast cancer susceptibility genes. Their discovery has had a profound impact on our understanding of basic biological processes and has led to pioneering clinical management strategies for unaffected individuals at risk of cancer. In this collection of reviews, we highlight some areas of active research that have been fostered by the discovery of BRCA1 and BRCA2. We were not able to include all research areas related to these genes and our choices were primarily based on a desire to illustrate the diversity of innovative studies currently being undertaken in breast cancer susceptibility, from basic biology through to clinical translation.
BRCA1 and BRCA2 were identified by positional cloning with no prior knowledge of their functional roles. Both genes are now known to be key players in pathways that repair damaged DNA, and this is described in the review by Gudmundsdottir and Ashworth. Although much progress has been made in elucidating the biology of these genes, it is clear that there is still much to learn, as exemplified by the review of Mullan and co-workers on recent work on the role of BRCA1 in the regulation of transcription and cell cycle control. Mouse models have had, and will continue to have, an important role in furthering our understanding of breast cancer genes, as articulated in the review by Evers and Jonkers. Rare genetic syndromes also continue to yield insights; the discovery that biallelic BRCA2 mutations cause Fanconi anaemia (FA) linked the FA pathway with breast cancer susceptibility and is discussed in the review by Mathew.
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