Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.

Abstract excerpt

Germline and somatic cancer variants in tumor suppressor genes (TSGs) share loss-of-function mechanisms, but studies of a few genes (DICER1 and CEBPA) have demonstrated differences in variant consequence and location. To systematically assess whether TSGs display distinct mutational patterns, we leveraged large public genetic databases and compared 32,941 high-quality pathogenic/likely pathogenic (P/LP) germline...

Topics

• Humans
• Germ-Line Mutation
• Neoplasms
• Genes, Tumor Suppressor
• Mutation
• Databases, Genetic