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

Diagnos...

...History Collection...

...endation 1.1All patients should have a fam...

...1.2 Patients should be asked to provide th...


...lti-gene Panel Testing...

...ecommendation 2.1When germline genetic test...

Recommendation 2.2When considering what t...


...ulti-gene Panel Testin...

...ndation 3If germline multi-gene pan...


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

...ation 4.1Patients who meet criteria...

...4.2Regardless of germline genetic test...


...s Recommended for Testing and Inclu...


...2. Genes for Which Pathogenic Variants Ident...


.... Tumors Relevant to Each Gene if a Cons...


... Figure 1. Selection of Genes for Multi-ge...


...ermline Testing in Response to Tumor Testin...


...ves that cancer clinical trials are vital to i...