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<p>Somatic mutations and copy number alterations in breast tumors are important to determine prognosis, predict treatment response, and identify targets for therapy. We utilized somatic sequencing data of breast tumors from Foundation Medicine Inc. to evaluate the association between genetic ancestry and somatic mutations. We used germline variants to infer genetic ancestry with both principal components analysis and ADMIXTURE. Overall, we identified 91 ancestry-specific somatic differences across 58 unique genes, which included potentially targetable genes such as <i>PIK3CA</i> found in higher frequency in European ancestry, and <i>EGFR</i> found in higher frequency in East Asian ancestry. Pan-cancer analysis of East Asian ancestry and <i>EGFR</i> also found higher frequency in prostate, thyroid, and kidney cancers. African ancestry was associated with increased frequency of copy number alterations overall and decreased frequency of multiple genes on the PI3K-AKT pathway. Future research is warranted to elicit the genetic and environmental conditions that underly these findings.</p>

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Association between ancestry and tumor somatic mutations in a large national cohort of women with breast cancer

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年10月29日

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  • Kirkpatrick B. Fergus,
  • Justin Newberg,
  • Ray Greenstein,
  • Laura Fejerman,
  • Luis Carvajal-Carmona,
  • Eric Collisson,
  • Niharika Dixit,
  • Garrett Frampton,
  • Franklin W. Huang,
  • Susan L. Neuhausen,
  • Elad Ziv

摘要

Somatic mutations and copy number alterations in breast tumors are important to determine prognosis, predict treatment response, and identify targets for therapy. We utilized somatic sequencing data of breast tumors from Foundation Medicine Inc. to evaluate the association between genetic ancestry and somatic mutations. We used germline variants to infer genetic ancestry with both principal components analysis and ADMIXTURE. Overall, we identified 91 ancestry-specific somatic differences across 58 unique genes, which included potentially targetable genes such as PIK3CA found in higher frequency in European ancestry, and EGFR found in higher frequency in East Asian ancestry. Pan-cancer analysis of East Asian ancestry and EGFR also found higher frequency in prostate, thyroid, and kidney cancers. African ancestry was associated with increased frequency of copy number alterations overall and decreased frequency of multiple genes on the PI3K-AKT pathway. Future research is warranted to elicit the genetic and environmental conditions that underly these findings.