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<p>Breast cancer outcomes vary across populations, yet Native American women remain scarcely represented in tumor-genomic resources, limiting population-specific molecular insights. We generated matched somatic mutation, copy-number, and RNA-seq profiles for 17 breast tumors from Native American women and performed race-stratified comparisons with White cases from The Cancer Genome Atlas (TCGA) Breast Invasive Carcinoma (BRCA) cohort (TCGA-BRCA). We observed population-associated differences across molecular layers, including higher mutation frequencies in <i>ARID1B</i>, <i>NOTCH4</i>, and MHC class II genes (<i>HLA-DRB1</i>/<i>HLA-DRB5</i>) in Native American tumors, and broader CNV alterations in White tumors. Integrative analyses highlighted antigen processing/presentation and cell-adhesion pathways, with class II alterations in Native American tumors and class I gains (e.g., <i>HLA-A</i>/<i>HLA-B</i>) plus <i>CD274</i> amplification in White tumors, suggesting differences in immune visibility and checkpoint modulation. We also noted contrasts in nucleotide-excision-repair involvement (<i>ERCC5</i>/<i>POLE</i> mutations vs <i>ERCC1</i>/<i>CUL4A</i> CNV gains), and mutational-signature analysis indicated greater MMR- and AID/<i>POLE</i>-associated exposures in the White cohort. To our knowledge, this study provides an initial multi-omics characterization of breast tumors from Native American women and offers a resource and hypotheses for larger, harmonized studies to assess prognostic and therapeutic relevance.</p>

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Molecular profiling of breast cancer in native American women reveals distinct genomic and transcriptomic features

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月17日

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  • Fangfang Guo,
  • Laurie E. Littlepage,
  • M. Sharon Stack,
  • Jun Li

摘要

Breast cancer outcomes vary across populations, yet Native American women remain scarcely represented in tumor-genomic resources, limiting population-specific molecular insights. We generated matched somatic mutation, copy-number, and RNA-seq profiles for 17 breast tumors from Native American women and performed race-stratified comparisons with White cases from The Cancer Genome Atlas (TCGA) Breast Invasive Carcinoma (BRCA) cohort (TCGA-BRCA). We observed population-associated differences across molecular layers, including higher mutation frequencies in ARID1B, NOTCH4, and MHC class II genes (HLA-DRB1/HLA-DRB5) in Native American tumors, and broader CNV alterations in White tumors. Integrative analyses highlighted antigen processing/presentation and cell-adhesion pathways, with class II alterations in Native American tumors and class I gains (e.g., HLA-A/HLA-B) plus CD274 amplification in White tumors, suggesting differences in immune visibility and checkpoint modulation. We also noted contrasts in nucleotide-excision-repair involvement (ERCC5/POLE mutations vs ERCC1/CUL4A CNV gains), and mutational-signature analysis indicated greater MMR- and AID/POLE-associated exposures in the White cohort. To our knowledge, this study provides an initial multi-omics characterization of breast tumors from Native American women and offers a resource and hypotheses for larger, harmonized studies to assess prognostic and therapeutic relevance.