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

...iagnosis

...mily History Collecti...

 Recommendation 1.1All patients sho...

...1.2 Patients should be asked to pro...


...ermline Multi-gene Pane...

...mendation 2.1When germline genetic...

...n 2.2When considering what to order for...


Germline Multi-gene Panel...

...ndation 3If germline multi-gene panel testin...


...to be Included in Multi-gene Panels...

...ndation 4.1Patients who meet criteria for germ...

....2Regardless of germline genetic testing crit...


...nes Recommended for Testing and Inclusion in M...


.... Genes for Which Pathogenic Variants Identi...


...3. Tumors Relevant to Each Gene if a Conserv...


...e 1. Selection of Genes for Multi-gene Panels...


...igure 2. Germline Testing in Response...


...that cancer clinical trials are v...