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Background  Breast cancer is a multifactorial disease with the highest incidence rates amongst all cancer types. Further, high levels of circulating tumour cells are a characteristic of breast cancer patients demonstrating a particular predisposition to the development of breast cancer metastatic disease. Actual diagnostic approaches are frequently unable to recognise early stages of tumour development which impairs individual outcomes. In contrast, predictive and preventive risk assessment and early diagnosis may lead to full recovery after surgical resection. Recently, the authors have reported about the construction of diagnostic windows, which could influence the molecular diagnostics of breast cancer.    Material and methods  In a previous study, diagnostic windows for breast cancer risk assessment were analysed. Women with non-malignant breast diseases demonstrating molecular profiles similar to those of breast cancer patients were enrolled into this follow-up study. In the interviews, for patients identified as predisposed to cancer, a specialised questionnaire has been set up to characterise individual risk factors and estimate their potential impacts on cancer onset and progression.    Results and conclusions  By utilising the technological tool of diagnostic windows, 13 individuals have been identified demonstrating molecular profiles typical for patients diagnosed with breast cancer. The current paper summarises the analytical results and makes statements to the application of the pathology-specific molecular profiles recognised as the technological tool for improved diagnostic approach, breast cancer risk assessment and preventive health care management. The necessity to create individual patient profiles and analyse the evolution of the molecular signature is justified for advanced medical services.  Expert recommendations  are provided to promote further developments in the field of advanced breast cancer management.

‘Suspect molecular signature’ in blood as the indicator of undiagnosed breast cancer, cancer risk and targeted prevention