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Background <p>Recently, a germline <i>HOXB13</i> variant, X285K was identified as a risk factor for prostate cancer in men of African ancestry. While this variant is likely associated with more aggressive prostate cancer, there has not yet been an in-depth clinical description of individual patients carrying this variant and their response to systemic therapies.</p> Methods <p>We studied six cases of germline X285K carriers with metastatic hormone-sensitive prostate cancer to characterize their hormonal sensitivity or resistance.</p> Conclusions <p>Longitudinal outcome analysis indicates that patients carrying X285K generally show favorable responses to therapies targeting the androgen receptor (AR), a finding that requires confirmation.</p>

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Case series exploring hormonal sensitivity in prostate cancer patients harboring the germline African-ancestry HOXB13 X285K variant

  • 期刊论文

  • 发表日期：

    2025年6月21日

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  • Mayuko Kanayama,
  • Emeline Colomba,
  • Yusra Shao,
  • Sarah M. Nielsen,
  • Edward D. Esplin,
  • Changxue Lu,
  • William B. Isaacs,
  • John C. Henegan,
  • Elisabeth I. Heath,
  • Jun Luo,
  • Régine Marlin,
  • Emmanuel S. Antonarakis

摘要

Background

Recently, a germline HOXB13 variant, X285K was identified as a risk factor for prostate cancer in men of African ancestry. While this variant is likely associated with more aggressive prostate cancer, there has not yet been an in-depth clinical description of individual patients carrying this variant and their response to systemic therapies.

Methods

We studied six cases of germline X285K carriers with metastatic hormone-sensitive prostate cancer to characterize their hormonal sensitivity or resistance.

Conclusions

Longitudinal outcome analysis indicates that patients carrying X285K generally show favorable responses to therapies targeting the androgen receptor (AR), a finding that requires confirmation.