This study aims to determine accuracy between perceived risk of genetic predisposition and objective estimation of this risk, and its associated factors in women, probands affected with breast cancer. Perception of this risk, absolute and comparative, was confronted with objective estimation. Emotional distress and knowledge postcounseling were measured, respectively by the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES) and the Breast Genetic Counseling Knowledge Questionnaire (BGKQ). On 213 eligible consultants, the 173 questionnaires (81.2%) analyzed revealed an inaccuracy of perception of absolute and comparative risks in 50 and 55.3%, respectively. An unsignificant tendency to overestimate the absolute risk (p = 0,08) and a significant underestimation of comparative risk (p < 0.001) appear. The inaccuracy of the perception of absolute risk is associated with greater distress (β = 0.150) and a lower educational level (β = -0.164), while the comparative risk is associated with higher knowledge (β = 0.208), higher level of education (β = 0.176) and a younger age (β = -0.151). Living in couple is a factor of inaccuracy of both form of risk assessment (β = 0.189, β = 0.147). While the adequacy of the perceived risk of carrying a mutation in a BRCA1 /2 should promote an informed decision about genetic testing and anticipation of its outcome, a large number of consultants does not apprehend this risk correctly when they have emotional distress and despite knowledge of the risk of breast cancer.

Despite development and widespread of PSA, current tools evaluating prostate cancer still give inconsistent or insufficiently relevant results. As encouraging data raised from circulating tumor cells detection in colon or breast cancer, they were evaluated as a surrogate prostate cancer biomarker. Tumor cells need to leave their surrounding primary environment and to survive in mesenchymal environment before they spill and metastasize. Basic research revealed several mutations required through a complex transition phenomenon, including dormancy steps. Circulating cells detection techniques are based on molecular and immunologic methods. Most of them need an enrichment step to improve sensibility and/or specificity. As of today, Veridex' CellSearch is the only FDA approved technique in the evaluation of castration resistant prostate cancer response to new drugs. Clinical research using other techniques highlighted the need for clinical endpoints, as there's no relevant tool and as techniques' target differ. Further studies are required to improve circulating tumors cells' staging and prognosis value. Cellular characterization may be the way to identify metastasis development potential more than the spillage burden. Those techniques still need improvements before they are included in daily practice decisional trees.

In a normal context, bone morphogenetic proteins (BMPs), members of the TGFβ superfamily, are key players in adult stem cell biology. They are involved in the control of the overall functional and phenotypic properties of the stem cell population (self-renewal, proliferation, differentiation, apoptosis, quiescence, etc.). They can act directly on the stem cell or through its microenvironment, contributing to the tight balance of this system. In the tumorigenic context, alterations of the BMP signalling are involved in the deregulation of the interaction between stem cells and their microenvironment and, as such, participate to the different steps of the transformation process.

Lung cancer and chronic obstructive lung disease (COPD) are two common fatal diseases. Apart from their common link to tobacco, these two diseases are usually considered to be the result of separate distinct mechanisms. In the past 15 years, numerous studies have produced arguments in favour of a relationship between these two pathologies that goes beyond a simple addition of risk factors. At the epidemiological level, there are data that demonstrate an increased incidence of bronchial carcinoma in patients with COPD. The links between these two pathologies are still unexplained but there are numerous arguments supporting a common physiopathology. Common genetic and epigenetic abnormalities, mechanical factors and signalisation pathways have been quoted. COPD and lung cancer appear to be two diseases possessing a genetic basis that creates a predisposition to environmental or toxic assaults, resulting in a different clinical manifestation in each disease. Consequently, improvements in the management of these two diseases will involve a more intensive investigation of their physiopathology, and require a closer collaboration between research centres and clinical units.

Considerable progress has been achieved in the understanding of lung cancer biology. Molecular driver mutations have been identified and different targeted therapies have been developed. Thus, the management of small size biopsies is essential and needs a strong collaboration between the different medical partners, particularly pulmonologist, pathologist, molecular biologist and oncologist. The aim is to optimise histological and molecular analyses allowing patients access to novel biotherapies. The French National Cancer Institute set up platforms for molecular genetics at university hospitals with expertise in molecular and pathological analysis. Mutational status of EGFR is analyzed routinely in non-small lung cancer. Treatment with EGFR inhibitors as first line therapy is limited to lung cancer patients harboring an EGFR mutation. More recently, ALK rearrangements have been identified as a rare driver mutation in lung cancer. Crizotinib, an ALK inhibitor is a new therapeutic standard in ALK rearranged tumors. Other biomarkers as RAS, BRAF, HER2 or PIK3CA have potential clinical relevance with possible approval of novel tailored treatment and will be discussed in this report. The project "BIOMARQUEURS France" will underscore the results of the French platform of more than 15 000 French patients.

Breast cancer occurring in young women is rare with epidemiological, diagnostic and prognostic characteristics of their own. It is more often linked to genetic predisposition and especially correlated with a lower survival and higher rates of recidivism. The aim of the study was to analyze epidemiological, clinicopathological, biological and evolutionary characteristics.

The prescription of some anti-cancer therapies is now based on the detection of specific genetic alterations that should be determined as early as possible not to put patients at a disadvantage. In 2009, the 'Aquitaine platform of molecular tumour genetics' (PGMC) developed a programme to evaluate and to improve the organisation of molecular cancer analyses, particularly the analysis of the KRAS gene. The objective was to describe the analysis process, the organization of pathology laboratories and the delays between the different phases of the process.

The purpose of this review of the literature is to document how breast cancer patients perceive the use of tumor gene profiling approaches to better adapt treatments, and to identify the features of these approaches that may impact their clinical application. In general, the use of tumor genomic analysis was perceived by patients as an approach facilitating personalized medicine and received considerable support. Nevertheless, a number of confusions and worries about these practices were also identified. Improving the quality of provider/patient communications should enable patients to play a more active part in the decision-making about their treatment. This will ensure that those who agree to their tumor gene analysis have realistic expectations and sound deductions of the final result disclosure process.

Recent advances in cancer research have led to the development of very expensive new drugs for cancer treatment: the targeted therapies. However, the introduction of these new therapeutic agents which costs are increasing could threaten the diffusion of these innovations. It is thus necessary to determine whether the use of targeted therapies yields clinical benefits that justify their increasing cost. The development of companion diagnosis tests to target drugs and thus to select those patients most likely to benefit from the treatment may provide a useful means of containing the progress of health care expenditures and improve the cost/benefit ratio. In this paper, we present current estimates of health care expenditures linked to the use of targeted therapies for cancer care. We also discuss some of the issues related to the regulatory decisions (pricing and reimbursement) concerning the test/drug couple.

Genomics of breast cancer is paving the way towards more and more tailored treatments. The number of molecularly targeted therapies under development is increasing. In parallel, the high-throughput analyses revealed the molecular heterogeneity of disease, and identified several very different molecular subtypes, numerous and sometimes very scarce molecular alterations, and multigenic signatures predictive for clinical outcome, some of which are being tested in prospective clinical trials. This molecular segmentation of breast cancer and the multitude of new drugs to be tested (alone and in combination) lead to develop clinical trials based on the molecular profile of tumors to guide the patient towards the most suitable drug.

This paper examines the emergence and development of one of the key components of genomics, namely gene expression profiling. It does so by resorting to computer-based methods to analyze and visualize networks of scientific publications. Our results show the central role played by oncology in this domain, insofar as the initial proof-of-principle articles based on a plant model organism have quickly led to the demonstration of the value of these techniques in blood cancers and to applications in the field of solid tumors, and in particular breast cancer. The article also outlines the essential role played by novel bioinformatics and biostatistical tools in the development of the domain. These computational disciplines thus qualify as one of the three corners (in addition to the laboratory and the clinic) of the translational research triangle.