BRCAplus

Diagnostics of gene changes and their importance for therapy planning.

The BRCAplus app is aimed at doctors who want to find out more about the rational, indication and implementation of BRCA diagnostics. The concept and implementation of the app take two important requirements into account:

-> Fast access to practical topics.

-> Links to important resources for education and testing.

To do this, BRCAplus offers well-structured information based on current evidence, recommendations, guidelines and laws.

For a better overview you will find:

- Leading summaries.

- Highlighting for better reception.

- Numerous graphics for illustration.

The requirements of BRCA diagnostics for therapy planning compared to family risk assessment as well as the procedure for molecular genetic analysis are presented step by step from the choice of sample material to the findings. This includes information:

- to initiate diagnostics for therapy planning,

- the sample material,

- for genetic analysis using NGS,

- for bioinformatics and data interpretation,

- for the classification of the BRCA variants,

- on the molecular genetic finding,

- for genetic education.

More and more tumor diseases can be genetically characterized and treated in a targeted manner. The number of identified cancer-relevant genes is constantly increasing. The BRCA genes are particularly important for therapy planning with PARP inhibitors (1-3)

The app informs about it:

-> which functions and structures have BRCA1 / 2 genes,

-> how homologous recombination deficiency (HRD) occurs,

-> which therapeutic starting points result from it.

If you would like to find out how germline mutated or somatically mutated BRCA genes differ and how they work, click directly on the corresponding heading.

The detection of pathogenic BRCA1 / 2 variants has been established for risk assessment and therapy planning. But what is a BRCAness phenotype? The BRCAplus app offers answers.

Another section is devoted to the mechanism of action of PARP inhibition. Keywords: synthetic lethality and PARP trapping.

Topic therapy planning. The app explains:

-> which current recommendations are available

-> in which situations PARP inhibitors can be used in the respective indications,

-> gives a summary of studies with the PARP inhibitor olaparib.

The content of this app was created by AstraZeneca and MSD with the support of experts in their respective fields.

credentials

1. https://cancergenome.nih.gov

2. Interdisciplinary S3 guideline for the early detection, diagnosis, therapy and follow-up of breast cancer version 4.3 - _February 2020 AWMF register number: 032-045OL, last access 15.5.2020

1.S3 guideline for diagnostics, therapy and aftercare of malignant ovarian tumors, version 3.0- January 2019, AWMF register number: 032 / 035OL, last access 15.5.2020