Recent advances in understanding breast cancer: focus on lifestyle, genes and molecular profiling

Breast cancer is the most common cancer in women worldwide, with over a million cases diagnosed every year. Increasing evidence supports the benefits of consuming a healthy diet for preventing breast cancer incidence and maximizing the chances of recovery in patients with the disease. Last week, results from a study carried out in mice suggested that consuming a low calorie diet could stop the spread of breast cancer by strengthening tissues surrounding the tumor, and a number of different foods have been reported to modify breast cancer risk.

In an Opinion article published in BMC Medicine,Salmon (Magnus Manske) Michel de Lorgeril and Patricia Salen explore the association between diet and breast cancer further, emphasizing that high intake of omega-3 fatty acids relative to omega-6 is linked to reduced breast cancer risk. The authors recommend that adhering to a healthy diet – specifically a Mediterranean diet high in omega-3 – is an important lifestyle strategy to decrease breast cancer risk, along with drinking less alcohol and being physically active.

Genetic testing and next-generation sequencing: discussions at the 31st Annual Miami Breast Cancer Conference

While it is estimated that around 42% of breast cancer cases could be prevented through living a healthy lifestyle, a number of genes have been associated with inherited breast cancer risk, including BRCA1, BRCA2 and PTEN.

Genetic dataGenetic testing post-Angelina Jolie was a key discussion at the recent 31st Annual Miami Breast Cancer conference, where Ellen Matloff, Genetic Counsellor at Yale Cancer Center, discussed the breast cancer prevention options for those carrying faulty genes, which include regular mammography screening and preventive surgery. Matloff highlighted that going forwards, it is important to consider whether genetic testing laboratories should share sequencing results to improve clinical care, along with the ethical implications for patients’ data.

Recent advances in genome sequences also have the potential to impact clinical care through genome-directed therapies and genomic scores to predict recurrence. Debu Tripathy discussed how the genomic landscape of breast cancer can vary considerably within the clinically recognized subtypes – defined by human epidermal growth factor and estrogen receptor expression – and outlined agents entering clinical trials that target different mutations.

The use of next-generation sequencing in the breast cancer clinic is very controversial; while Kimberly Blackwell advocated its value for defining mutations that can be targeted therapeutically and predicting prognosis, Mark Robson argued that genetic variants may not necessarily be targetable with drugs, and next generation sequencing is not yet valuable in the clinic. Both speakers agreed that genomic sequencing could be useful for identifying patients likely to benefit from inclusion in clinical trials, and the results from genome-directed clinical trials in the coming years should shed further light on whether next-generation sequencing can have a direct impact on patient care.

Clinical study design in the era of molecular profiling: considerations from the IMPAKT 2014 Breast Cancer Conference

There are a number of important considerations for clinical trial design in light of advances in genomic technologies, which were outlined at the IMPAKT 2014 Breast Cancer Conference IMPAKT 2in Brussels last month. Lisa Carey explained that traditional, large trials are unfeasible as more clinical subgroups of breast cancer are identified, and described the different approaches to ‘genome-forward trials’ that are currently being employed. Martine Piccart highlighted that integrated phase 2/3 trial designs are increasingly being advocated by statisticians, and emphasized the need for large international collaborations to better define the optimal treatment strategy for individual patients based on genomic signatures.

Alternative study designs are also being explored for comparing the efficacy of breast cancer treatments across different clinical trials. In a research article published in BMC Medicine, Shannon Cope and colleagues outline the feasibility of using a network meta-analysis – a method to compare treatments that have not previously been analyzed head-to-head in a randomized clinical trial – to assess the efficacy of everolimus in combination with hormonal therapy compared with chemotherapy for treating advanced breast cancer. The authors conclude that it is important to systematically explore the risks and benefits of indirect therapy comparisons, and we look forward to seeing how clinical trial and comparative study designs evolve as we gain more insight into breast cancer genomics.

Later this year, BMC Medicine will be publishing a special article collection to highlight the latest progress across all areas of breast cancer medicine, including clinical studies of new therapies, molecular genomics and translational advances. If you have any research you would like us to consider for inclusion in this article collection, please email

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