Lab Publication - Nature Communications

The prognostic effects of somatic mutations in ER-positive breast cancer

We report targeted sequencing of 83 genes using DNA from more than 1200 women with hormone receptor-positive (HR+) breast cancer patients to determine interactions between somatic mutation and prognosis. Previously established associations between MAP3K1 and PIK3CA mutations with luminal A status/favorable prognosis and TP53 mutations with Luminal B/non-luminal tumors/poor prognosis were observed, validating the methodological approach. NF1 frame-shift nonsense (FS/NS) and DDR1 mutations were also identified as poor outcome drivers. A novel splice site hotspot was discovered in CBFB. We conclude that, uncommon recurrent somatic mutations should be further explored to create a more complete explanation of the highly variable outcomes that typifies ER+ breast cancer.

Read the article: [PubMed] [Nature Communications]