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

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Kilic S., ŞÜKRÜOĞLU ERDOĞAN Ö., ÇELİK DEMİRBAŞ B., YALNIZ KAYIM Z., Ozgel M., TUNÇER Ş. B.

CURRENT GENETIC MEDICINE REPORTS, cilt.14, sa.1, 2026 (ESCI)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 14 Sayı: 1
• Basım Tarihi: 2026
• Doi Numarası: 10.1007/s40142-025-00235-0
• Dergi Adı: CURRENT GENETIC MEDICINE REPORTS
• Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
• İstanbul Üniversitesi Adresli: Evet

Özet

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.