MayoComplete Gynecological Cancer Panel, Next-Generation Sequencing, Tumor

Clinical Use

Use

This test is useful for predicting patients' prognosis and response to targeted therapy, as well as assessing microsatellite instability (MSI) for immunotherapy decisions in patients with gynecologic tumors, including endometrial, ovarian, and sex-cord stromal tumors. The test evaluates somatic mutations within a curated list of 49 genes that are important for clinical management, and assesses DNA damage response genes associated with therapeutic eligibility for poly(adenosine diphosphate-ribose) polymerase inhibitors. It also assists in molecular classification of gynecologic tumors based on current guidelines and World Health Organization recommendations.

Special Instructions

Not provided.

Limitations

This test is designed to evaluate somatic mutations and does not assess for germline alterations within the genes listed. It cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk. A negative result does not rule out the presence of a variant below the detection limits of this assay. It may not detect larger-scale genomic copy number variants or epigenetic modifications. The test cannot reliably determine if a variant in PMS2 exons 11-15 originated from PMS2 or PMS2CL pseudogene, additional testing may be recommended in such cases.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (49 genes)

AKT1APCARID1AARID1BATMATRATRXBAP1BARD1BRAFBRCA1BRCA2BRIP1CDC42CDK12CDKN2ACTNNB1DICER1EIF1AXEPCAMERBB2FBXW7FOXL2GNASKRASL1CAMMED12MLH1MSH2MSH6NBNNF2NRASPALB2PIK3CAPIK3R1PMS2POLEPPP2R1APTENRAD51CRAD51DRB1SMARCA2SMARCA4SMARCB1STK11TP53TRAF7