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<p>We report a case of a 66-year-old male with metastatic prostate adenocarcinoma carrying a germline heterozygous <i>XPC</i> c.1103_1104del p.(Gln368Argfs*6) variant. Despite standard therapies including chemotherapy, androgen deprivation, radiotherapy, and radionuclide treatment, the patient demonstrated progressive osseous metastases. Comprehensive next-generation sequencing revealed this rare pathogenic frameshift variant in the <i>XPC</i> gene, which plays a key role in nucleotide excision repair. The patient’s family history included multiple malignancies (prostate, ovarian, lung, and bladder cancers), with all nuclear family members affected. While biallelic pathogenic <i>XPC</i> variants are classically associated with Xeroderma Pigmentosum, this case expands the limited evidence suggesting possible roles of heterozygous <i>XPC</i> variants in non-dermatologic malignancies.</p>

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Familial Cancer Predisposition Associated with Germline XPC Variant rs1450238352 in a Patient with Metastatic Prostate Cancer: A Case Report

  • 期刊论文

  • 发表日期：

    2026年1月8日

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  • Seda Kilic,
  • Ozge Sukruoglu Erdogan,
  • Betul Celik Demirbas,
  • Zubeyde Yalniz Kayim,
  • Merve Ozgel,
  • Seref Bugra Tuncer

摘要

We report a case of a 66-year-old male with metastatic prostate adenocarcinoma carrying a germline heterozygous XPC c.1103_1104del p.(Gln368Argfs*6) variant. Despite standard therapies including chemotherapy, androgen deprivation, radiotherapy, and radionuclide treatment, the patient demonstrated progressive osseous metastases. Comprehensive next-generation sequencing revealed this rare pathogenic frameshift variant in the XPC gene, which plays a key role in nucleotide excision repair. The patient’s family history included multiple malignancies (prostate, ovarian, lung, and bladder cancers), with all nuclear family members affected. While biallelic pathogenic XPC variants are classically associated with Xeroderma Pigmentosum, this case expands the limited evidence suggesting possible roles of heterozygous XPC variants in non-dermatologic malignancies.