Hereditary cancer panel

Hereditary cancer panel

The GT germline panel covers 50 genes reported to be associated with hereditary cancers in major organs, including breast and gynecologic (breast, ovarian, uterine), gastrointestinal (colorectal, gastric, pancreatic), endocrine (thyroid, paraganglioma/pheochromocytoma, parathyroid, pituitary), genitourinary (renal/urinary tract, prostate), skin (melanoma, basal cell carcinoma), brain/nervous system, sarcoma, hematologic (myelodysplastic syndrome/leukemia), based on gene listed in National Comprehensive Cancer Network (NCCN) guideline, and ACMG.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.

Utility of the germline testing for hereditary cancers

Germline analysis following tumor sequencing often produces findings that may impact patient care by influencing systemic therapy choices, surgical decisions, additional cancer screening, and genetic counseling in families. Current guidelines and tumor testing approaches appear to capture many, but not all, of these germline findings, reinforcing the utility of both expanded germline follow-up testing as well as germline analysis independent of tumor sequencing in appropriate patients.

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doi: 10.1200/JCO.19.00160
doi: 10.1001/jamanetworkopen.2020.19452