Introduction: integration of germline genetic information can improve cancer diagnoses, treatment and prevention


Traditionally germline cancer genetics has been largely separated from somatic cancer genetics at both the research and clinical level. Increasingly these boundaries are inhibiting optimal patient care and knowledge advancement. The contribution of cancer predisposition genes (CPGs) to several cancers (e.g. ovarian cancer, triple-negative breast cancer, endocrine cancer) is considerable and stratification by germline status is important for cancer management. Increasingly precision therapies that exploit vulnerabilities of germline CPG mutations are becoming available (e.g. PARP inhibitors) and pharmacogenomic information is relevant for treatment response and adverse events. Conversely, use of tumour genetic data can be very helpful in the interpretation of likely pathogenicity of germline variants. In this session the value of germline genetic data integration into the patient pathway will be outlined. Learning objectives:

  1. An understanding of the different types of germline genetic information that are of value in cancer diagnosis and treatment and in prevention of cancer and adverse treatment effects.
  2. An understanding of how integration of somatic and germline genetic information can be mutually advantageous.
  3. An understanding of the need for greater integration of germline and somatic genetic testing data and the processes by which this can be achieved.