Germline ATM Variation in a Young Patient Diagnosed with Breast Cancer Presenting with Vaginal Neuroendocrine Carcinoma

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Kahraman E. G., Akay S., PALA E. E., ÖZDEMİR T. R., ÜNAL O. Ü.

Journal of Oncological Science, cilt.11, sa.1, ss.58-62, 2025 (Scopus, TRDizin)

Özet

ATM plays a crucial role in repairing DNA damage and maintaining genomic stability. Mutations in ATM are associated with increased breast cancer risk and the development of various neuroendocrine carcinomas, including small-cell lung carcinoma and neuroendocrine tumors of the gastrointestinal tract. Here, we present a case with a heterozygous ATM variant [NM_000051.4.7174C>T(p.Arg2392Trp)], which is classified as a variant of uncertain significance (VUS) in the ClinVar database. This patient, who was initially treated for breast cancer, was later diagnosed with a rare vaginal neuroendocrine carcinoma at month 31 post-breast cancer diagnosis. In contrast to most cases, the patient tested negative for human papillomavirus (HPV)-DNA. Based on the rare presentation of neuroendocrine carcinoma and the negative HPV-DNA status, we proposed that VUS of ATM may be associated with cancer development and has pathogenic roles.