ER-Positive Breast Cancer Outcomes Linked to New, Known Somatic Mutations

NEW YORK (GenomeWeb) – A new study is spelling out the somatic mutations linked to poorer or more promising prognoses for women with estrogen receptor-positive breast cancer — ranging from known predictors of patient outcomes to new ones not identified in the past.

“With all the breast cancer sequencing that’s been done, it’s tempting to think we’ve found everything of importance,” first author Obi Griffith, an assistant professor of medicine and assistant director of  Washington University School of Medicine’s McDonnell Genome Institute, said in a statement. “But this study tells us there is still more to discover.”

Griffith and colleagues from Washington University and elsewhere sequenced 83 genes in hormone receptor-positive primary breast cancer samples from nearly 1,000 pre- or post-menopausal women. Based on mutations and patient survival patterns in these cohorts, as well as a subsequent validation analysis, they saw better-than-usual outcomes in cases involving the sorts of MAP3K1 or PIK3CA mutations that typically mark tumors from the luminal A breast cancer subtype.

Conversely, the team noted, recurrent mutations affecting TP53, and much rarer mutations involving the NF1, PIK3R1, or DDR1 genes, appeared to coincide with poorer overall survival in one or more of the estrogen receptor-positive breast cancer

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