Assesment of near 1,000 cases brings insights into breast cancer mutations

Targeted gene sequencing of 947 patients suffering from breast cancer (type ER-positive) confirmed known mutations crucial for the disease and revealed other involved genes.

Basing on previous research, targeted sequencing aimed at 83 genes that are or may be associated with ER-positive breast cancer.

From them, most of the mutations were found in genes: PIK3CA (41.1%), TP53 (15.5%), MLL3 (13.4%), MAP3K1 (12.0%), CDH1 (10.5%), MALAT1 (10.0%), GATA3 (9.1%), MLL2 (8.7%), ARID1A (7.2%), and BRCA2 (6.6%). This findings are consistent with other sequencing projects and 8 of 83 revised genes are currently in clinical use.

The large dataset allowed to reveal novel gene mutated in breast cancer: CBFB (core-binding factor subunit beta).

Cases were divided into a premenopausal and postmenopausal moment of diagnosis. On this basis, researchers have shown that frequencies of mutations are different across at least some of genes: RELN, ERBB2, ERBB4, MET before menopause; DDR1, PRKDC, XBP1 after menopause; NF1, PIK3R1, PIK3CA, TP53 independent of menopause.

More: “The prognostic effects of somatic mutations in ER-positive breast cancer”, O. Griffith et al., 2018, doi:10.1038/s41467-018-05914-x.