Milestones
MS | Name | WP | Lead | Date of Delivery | Achieved |
---|---|---|---|---|---|
1 | Samples collected | 2 | CNIO | 01-03-2016 | 29-02-2016 |
2 | Gene selection Panel 1 | 2 | CNIO | 01-03-2016 | 10-01-2016 |
3 | HAnDEL database up and running | 3 | ULEI | 01-09-2016 | 19-08-2016 |
4 | BCAC database up and running | 3 | UCAM | 01-09-2016 | 31-03-2016 |
5 | siRNA-based knockdown established | 4 | LUMC | 01-09-2016 | 01-05-2017 |
6 | Questionnaires for BOADICEA surveys completed | 5 | IC | 01-09-2016 | 15-05-2016 |
7 | Panel 1 sequencing completed | 2 | CNIO | 01-03-2017 | 05-04-2017 |
8 | Whole-sequencing technology decided | 2 | CNIO | 01-09-2018 | |
9 | Translation of PAHC in four languages completed | 5 | IC | 01-03-2017 | 31-08-2016 |
10 | In-silico analysis of sequence data of first gene panel completed | 3 | UCAM | 01-09-2017 | 31-08-2017 |
11 | Scanning of naturally occurring alternative splice variants completed | 4 | SERMAS | 01-09-2017 | 15-08-2017 |
12 | Assessment of complementation of deficient phenotype completed | 4 | LUMC | 01-09-2017 | 31-08-2017 |
13 | RIgORouS completed | 4 | LUMC | 01-09-2017 | 31-08-2017 |
14 | VUSplot available | 4 | LUMC | 01-09-2017 | 31-08-2017 |
15 | Whole-exome sequencing on BRIDGES samples completed | 2 | CNIO | 01-01-2020 | |
16 | Whole-exome sequencing data VarCalled and annotated | 3 | UCAM | 01-05-2020 | |
17 | Minigene constructs for 11 BC-HR genes available | 4 | CSIC | 01-09-2018 | 29-08-2018 |
18 | E-learning steps 1 to 3 completed | 5 | UKK | 01-09-2018 | |
19 | Patient decision aid completed | 5 | UKK | 01-09-2018 | |
20 | Accrual of Cohort 1 for prospective observational study completed | 5 | UKK | 01-09-2018 | 01-10-2018 |
21 | BOADICEA-PLUS completed | 3 | UCAM | 01-09-2019 | |
22 | Analysis by the RIgORouS pipeline of 250 variants completed | 4 | LUMC | 01-09-2019 | |
23 | Accrual of Cohort 2 for prospective observational study completed | 5 | IC | 01-03-2020 | |
24 | Sequencing of BRIDGES panel completed | 2 | CNIO | 01-03-2020 | |
25 | 250 spliceogenic variants analyzed by minigene assay | 4 | SERMAS | 01-03-2020 | |
26 | BOADICEAPLUS validated in prospective setting | 3 | UCAM | 01-09-2020 | |
27 | Validated BOADICEA-PLUS disseminated via web interface | 3 | UCAM | 01-09-2020 | |
28 | Statistical analyses of cohorts 1 and 2 completed | 3, 5 | UKK | 01-09-2020 | |
29 | Genetic counseling guideline completed | 5 | UKK | 01-09-2020 |