The page lists 7 deliverables related to the research project "BRIDGES".
title and desprition | type | last update |
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Validated instruments for the identification of patients with psychological distressValidated instruments for the identification of patients with psychological distress and structured intervention concept. We will assess the Psychosocial Aspects of Hereditary Cancer (PAHC), and the Distress Thermometer, in women undergoing genetic testing for breast cancer risk in Cancer Genetic Clinics from different EU countries. The PAHC questionnaire is dedicated to cancer genetic clinics, and has recently been validated in Dutch cancer clinics; it will be translated into English, German, French, and Spanish. Moreover, the PAHC will be modified and validated in the same cohort for the evaluation of psychosocial distress in post-test counselling concerning the uptake of preventive measures (postPAHC). A cross-cultural validity of both versions will be performed through the first patients included in the prospective observational study. At least 312 patients will be accrued in the institutes of P7 and P8, according to published recommendations. Programme: H2020-EU.3.1.2. - Topic(s): PHC-05-2014 |
Demonstrators, pilots, prototypes | 2019-12-17 |
A catalogue of naturally occurring alternative splicingA catalogue of naturally occurring alternative splicing events in lymphocytes and epithelial breast tissue in 11 BC-HR genes. We will use GENCODE annotations (retrieved from Ensemble) to predict alternative splicing events occurring in the 11 BC-HR genes. This information will be used to design a set of overlapping cDNA amplicons covering the full-length reference transcript of each gene. Subsequently, RNA from lymphocytes (healthy blood donors) and from normal breast tissue (either commercially available or from cosmetic surgery) will be used for analysis of RT-PCR amplicons by capillary electrophoresis (CEP) and direct sequencing by Sanger. This will yield a catalogue of alternative splicing for each of the BC-HR genes, as well as tissue-specific differences therein. Programme: H2020-EU.3.1.2. - Topic(s): PHC-05-2014 |
Demonstrators, pilots, prototypes | 2019-12-17 |
Combined analysis of exome and gene panel sequencingA report of the analysis of the data that were used to select the genes for panel 2 (specifically from the combined analysis of COMPLEXO and PERSPECTIVE). Programme: H2020-EU.3.1.2. - Topic(s): PHC-05-2014 |
Documents, reports | 2019-12-17 |
A high-throughput functional analysis system (RIgORouS)A high-throughput functional analysis system (RIgORouS) for 11 BC-HR genes. The final analysis pipeline (RIgORouS) exploits three read-out systems (Figure 3.1d): Programme: H2020-EU.3.1.2. - Topic(s): PHC-05-2014 |
Demonstrators, pilots, prototypes | 2019-12-17 |
Survey results of BOADICEAA comprehensive description of survey results of current BOADICEA users. Online surveys among genetic counselors on the use of the present BOADICEA tool, by analyzing the number and type of BOADICEA website connections and by using online questionnaires. We will use two validated instruments for our evaluation: the System Usability Scale (SUS) and the Center for Healthcare Evaluation Provider Satisfaction Questionnaire (CHCE-PSQ). These instruments have been recently used to evaluate the uptake of an online tool to guide BRCA1/2 mutation carrier women in their prophylactic surgery decisions. Programme: H2020-EU.3.1.2. - Topic(s): PHC-05-2014 |
Documents, reports | 2019-12-17 |
A panel of validated minigene-based splicing assaysA panel of validated minigene-based splicing assays for 11 BC-HR genes. We will synthesize minigenes covering all exons for the selected BC-HR genes. Constructs will be transfected into human epithelial (breast cancer) cell lines. RNA will be extracted and minigene transcripts will be amplified using plasmid-specific primers and analysed by CEP and Sanger sequencing. Programme: H2020-EU.3.1.2. - Topic(s): PHC-05-2014 |
Demonstrators, pilots, prototypes | 2019-12-17 |
Project WebsiteLaunch of project website with information on project related matters for the general public and a password-protected part for members of the consortium. Programme: H2020-EU.3.1.2. - Topic(s): PHC-05-2014 |
Websites, patent fillings, videos etc. | 2019-12-17 |