TERT promoter hotspot mutations in breast cancer

• DOI: 10.1007/s12282-017-0825-5
• Publication Date: 2017-12-08T09:51:09Z
• Authors: Tatsunori Shimoi; Masayuki Yoshida; Yuka Kitamura; Tomomi Yoshino; Asuka Kawachi; Akihiko Shimomura; Emi Noguchi; Mayu Yunokawa; Kan Yonemori; Chikako Shimizu; Takayuki Kinoshita; Koichi Ichimura; Takahiro Fukuda; Yasuhiro Fujiwara; Kenji Tamura
• Keywords: Surgical oncology

Telomerase reverse transcriptase (TERT) promoter mutations have been discovered in solid and hematological malignancies, where they reflect TERT activation cell-cycle progression. In melanoma, glioma, thyroid cancers, are associated with a poor prognosis. However, no studies evaluated the prevalence prognostic significance of breast cancer. We analyzed hotspot (C228T C250T) using direct sequencing DNA from 319 tumor tissues. also collected clinical data cases that were positive for mutations. detected three (0.9%) cases. Two patients had hormone receptor-positive human epidermal growth factor receptor 2-negative cancer, while third patient triple-negative All initially diagnosed operable cancer undergone surgical treatment. The relapse-free survivals these 83, 226, 270 months, respectively. C250T case C228T remaining two Given rarity mutations, further needed to confirm their