The prognostic effects of somatic mutations in ER-positive breast cancer.
作者： Obi L. Griffith , Nicholas C. Spies , Meenakshi Anurag , Malachi Griffith , Jingqin Luo
DOI: 10.1038/S41467-018-05914-X
关键词:
摘要: Here we report targeted sequencing of 83 genes using DNA from primary breast cancer samples 625 postmenopausal (UBC-TAM series) and 328 premenopausal (MA12 trial) hormone receptor-positive (HR+) patients to determine interactions between somatic mutation prognosis. Independent validation prognostic was achieved data the METABRIC study. Previously established associations MAP3K1 PIK3CA mutations with luminal A status/favorable prognosis TP53 Luminal B/non-luminal tumors/poor were observed, validating methodological approach. In UBC-TAM, NF1 frame-shift nonsense (FS/NS) also a poor outcome driver that validated in METABRIC. For MA12, associated PIK3R1 reproducible. DDR1 strongly UBC-TAM despite stringent false discovery correction (q = 0.0003). conclusion, uncommon recurrent should be further explored create more complete explanation highly variable outcomes typifies ER+ cancer.
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