NeoTYPE® HRR Profile

Homologous recombination repair (HRR) is a pathway where mutations in genes involved in the repair of double-stranded DNA breaks have lost the ability to repair DNA and thus may lead to diseases such as cancer. BRCA1, BRCA2, ATM, PALB2, and RAD51 are among the best-known genes in this repair complex; 26 such genes are included in the NeoTYPE HRR Profile which is a tumor profile for somatic mutation detection. PARP inhibition targets HRR/HRD-mutated cells by further crippling DNA repair and inducing synthetic lethality of tumor cells. PARP inhibition is an active area of clinical trial research across a wide variety of tumors. Breast, ovarian, pancreatic, and prostate are the cancers most studied for response to FDA-approved and off-label therapy uses. Some tumors with HRR/HRD mutations have shown susceptibility to platinum-based chemotherapy.

This Profile also includes four genes associated with Lynch Syndrome, another cause of genomic scarring due to mismatch repair deficiency and microsatellite instability. Checkpoint inhibitor therapy may be considered for patients whose tumors express these defects.