Oncology/Research
Session # P-10
1. We present 13 cases with biallelic pathogenic variants (BPVs) in NTHL1 (n=10) and MSH3 (n=3). This data doubles the published literature on individuals with BPVs in MSH3, and adds significantly to the published literature on individuals wit BPVs in NTHL1.
2. Twelve of 13 individuals with biallelic NTHL1 and MSH3 mutations in our MGPT cohort had a polyposis and/or early-onset colorectal cancer phenotype. Early-onset breast cancer was enriched in the NTHL1 positive cohort (4/6 females), but this may be a product of an MGPT cohort, which is often enriched for breast cancer.
3. BPVs in NTHL1 and MSH3 are exceedingly rare (The positive rate for NTHL1 and MSH3 BPVs was 0.00513% and 0.00155%, respectively), but are likely associated with an autosomal recessive polyposis syndrome.
Ambry Authors: Jennifer Herrera-Mullar, Felicia P. Hernandez, Matthew P. Johnson, Carolyn Horton