Germline Genetic Testing for Cancer

Publication Date: May 17, 2024

 Key Points

 Key Points

  • Family history plays an important role in informing appropriate gene selection for germline testing.
  • The number of genes available on germline panels varies widely, ranging from a few to more than a hundred.
  • It is important to recognize that tumor testing is not a substitute for germline testing. Therefore, any individual meeting the criteria for germline genetic testing should still undergo clinical genetic testing optimized for detection of germline variants, regardless of the tumor profiling results.

Diagnosis

...gnosis...

...mily History Collection...

...tion 1.1All patients should have a family hist...

...on 1.2 Patients should be asked to p...


...ne Multi-gene Panel Te...

...mendation 2.1When germline genetic testing...

...ndation 2.2When considering what to order...


...ine Multi-gene Panel Testin...

...ion 3If germline multi-gene panel testing is off...


...enes to be Included in Multi-gene Pane...

...tion 4.1Patients who meet criteria for germli...

...mmendation 4.2Regardless of germline gen...


...Recommended for Testing and Inclusion i...


.... Genes for Which Pathogenic Variants Identified...


...ors Relevant to Each Gene if a Conservati...


...election of Genes for Multi-gene Panels...


...igure 2. Germline Testing in Response to T...


...believes that cancer clinical trials are vita...