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William J. Gradishar, MD, FACP, FASCO


Gene Enrichment Prognostic Clues for Breast Cancer in Adolescents and Young Adults

By: Sarah Lynch
Posted: Friday, September 8, 2023

A group of researchers aimed to investigate the biology and prognostic effects of breast cancer in adolescents and young adults (AYAs). Yoshihisa Tokumaru, MD, PhD, of Gifu University Graduate School of Medicine, Japan, and colleagues presented their findings at the 2023 American Society of Clinical Oncology (ASCO) Breakthrough meeting in Yokohama, Japan (Abstract 16). They found that enriched gene sets in this younger population may be linked to cell proliferation and ultimately poorer outcomes.

“[AYA]-generation breast cancer has characteristics of high clinicopathologic malignancy and poor prognosis compared to cancers of other age groups. In recent advances in cancer research, the tumor microenvironment is involved in cancer invasion,” the investigators noted.

The study authors analyzed data from 2,042 patients with clinical and intratumoral gene-expression data from The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) databases. They defined AYA-generation breast cancer as occurring in patients between the ages of 15 and 39 and middle-aged breast cancer as occurring in patients between the ages of 40 and 65. Tumor biology and the cancer microenvironment were assessed using gene-set enrichment analysis and the xCell algorithm, which compares gene-expression profiles with cell types of immune and stroma cells. Disease-specific survival and disease-free survival were studied to draw conclusions on the prognosis of AYA-generation cancer as compared with their middle-aged and elderly counterparts.

Analysis of the METABRIC data showed the proportion of advanced stages was higher in AYA-generation cancer than in middle-aged and elderly cancer, but this was not the case with the data from TCGA. Gene-set enrichment analysis showed that “AYA-generation breast cancer enriched cell proliferation–related gene sets such as E2F targets, G2M checkpoints, and MYC targets V1” in both database cohorts, the investigators reported. However, the METABRIC cohort showed a higher infiltration of tumor-suppressing macrophage M1 and helper T-cell Th1.

Disclosure: The study authors reported no conflicts of interest.

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