Abstract
BackgroundTelomerase reverse transcriptase (TERT) promoter mutations have been discovered in solid and hematological malignancies, where they reflect TERT activation and cell-cycle progression. In melanoma, glioma, and thyroid cancers, TERT promoter mutations are associated with a poor prognosis. However, no studies have evaluated the prevalence and prognostic significance of TERT promoter mutations in breast cancer.MethodsWe analyzed TERT promoter hotspot mutations (C228T and C250T) using direct sequencing of DNA from 319 tumor tissues. We also collected clinical data from cases that were positive for TERT promoter mutations.ResultsWe detected TERT promoter mutations in three (0.9%) of the 319 cases. Two patients had hormone receptor-positive and human epidermal growth factor receptor 2-negative cancer, while the third patient had triple-negative cancer. All three patients had initially been diagnosed with operable breast cancer and undergone surgical treatment. The relapse-free survivals of these patients were 83, 226, and 270 months, respectively. The mutations were C250T in the triple-negative cancer case and C228T in the remaining two cases.ConclusionGiven the rarity of TERT promoter mutations, further studies are needed to confirm their prognostic significance in breast cancer cases.
Highlights
Breast cancer is a common cancer and the leading global cause of cancer-related mortality among women [1]
ND no data, IDC invasive ductal carcinoma, ILC invasive lobular carcinoma, AS Allred score, HER2 human epidermal growth factor receptor 2, IHC immunohistochemistry. This is the first detailed report regarding Telomerase reverse transcriptase (TERT) promoter mutations in human breast cancer, and we identified TERT promoter mutations in three (0.9%) of 319 samples
TERT promoter mutation and PIK3CA mutation are considered mutually exclusive [21], whereas this coexistence is reported in other carcinomas [22, 23]
Summary
Breast cancer is a common cancer and the leading global cause of cancer-related mortality among women [1]. Using wholegenome sequencing, numerous somatic and driver mutations have been identified in breast cancer [2]. This information has allowed physicians to stratify patients according to their tumor’s molecular characteristics and select appropriate therapies. Telomerase reverse transcriptase (TERT) promoter mutations have been discovered in solid and hematological malignancies, where they reflect TERT activation and cell-cycle progression. No studies have evaluated the prevalence and prognostic significance of TERT promoter mutations in breast cancer. We collected clinical data from cases that were positive for TERT promoter mutations. Conclusion Given the rarity of TERT promoter mutations, further studies are needed to confirm their prognostic significance in breast cancer cases
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