BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor

Casandra

Casandra Test Code MC74361Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID BRCATCPT Codes 81163, 88381

BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor

Clinical Use

Use

This test is useful for identifying specific mutations within the BRCA1 and BRCA2 genes, which are associated with responses to PARP (poly [ADP-ribose] polymerase) inhibitors and sensitivity to platinum-based therapy. It evaluates somatic mutations in solid tumor samples, providing valuable insights for targeted therapy for patients with breast, ovarian, prostate, and pancreatic cancers that harbor a somatic BRCA mutation. However, it's not intended for evaluation of inherited or germline BRCA1 or BRCA2 mutations.

Special Instructions

Not provided.

Limitations

This test cannot differentiate between somatic and germline alterations and does not assess germline alterations within the listed genes. It is limited to point mutations and small deletion-insertion mutations within the BRCA1 and BRCA2 genes, detecting single exon deletions, but not multi-exon deletions, duplications, larger genomic variants, or epigenetic modifications. The test requires at least 5% mutant allele frequency and 500X coverage. DNA variants of uncertain significance may be identified. Negative results do not rule out variants below detection limits, and additional testing may be necessary to assess hereditary risks.

Test Details

New York Approved