Germline Pathogenic Variants and Clinical Outcomes in Asian Patients With Breast Cancer.

• Tác giả: Hisaki Aiba, Saori Fujiwara, Ryuji Hamamoto, Kenichi Harano, Yosuke Hirotsu, Megumi Hori, Kota Katanoda, Rui Kitadai, Takahiro Kogawa, Takashi Kohno, Yuki Kojima, Aya Kuchiba, Yohei Miyagi, Yukihide Momozawa, Takeshi Murata, Yoichi Naito, Hiroshi Nakagomi, Tohru Ohtake, Masao Omata, Tatsuya Onishi, Motonobu Saito, Sho Shiino, Yoko Shimada, Chikako Shimizu, Tatsunori Shimoi, Akihiko Shimomura, Kouya Shiraishi, Kazuki Sudo, Kuniko Sunami, Akihiko Suto, Kazunoshin Tachibana, Takashi Yamanaka, Toshinari Yamashita, Yuji Yamashita, Chisako Yamauchi, Shu Yazaki, Kan Yonemori, Masayuki Yoshida, Teruhiko Yoshida
• Ngôn ngữ: eng
• Ký hiệu phân loại: 613.71024796 Physical fitness
• Thông tin xuất bản: England : Cancer science , 2025
• Bộ sưu tập: NCBI
• ID: 51035

Tóm tắt

 Despite the importance of genetic testing for risk assessment and treatment in breast cancer, the prognostic impact of germline pathogenic variants (PVs), especially in Asian populations, is unclear. We assessed the impact of germline PVs in patients with early-stage breast cancer. This study included 7278 Japanese multihospital registry patients. PVs of ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, STK11, and TP53 were evaluated. PV and non-PV carriers were matched by age, histology, and stage. Associations between PVs and survival were assessed. The primary outcome was invasive disease-free survival (IDFS). Secondary outcomes included relapse-free survival (RFS), overall survival, and breast cancer-specific survival. We identified 320 (4.4%) patients with BRCA1/2 PVs and 79 (1.1%) with PVs other than BRCA1/2 (non-BRCA1/2). A total of 360 patients (BRCA1/2, n = 289
  non-BRCA1/2, n = 71) were matched to 720 noncarriers. Patients with BRCA1/2 PVs had significantly shorter 10-year IDFS (adjusted hazard ratio (aHR) = 2.15
  95% confidence interval (CI), 1.61-2.86
  p <
  0.001)
  and RFS (aHR = 1.74
  95% CI, 1.25-2.44
  p = 0.001) than noncarriers. Among patients with hormone receptor-positive HER2-negative breast cancer, BRCA1/2 PV carriers exhibited significantly shorter 10-year IDFS than noncarriers, even those with stage I/II disease (total, aHR = 2.23
  95% CI, 1.55-3.23
  p <
  0.001, Stage I/II, aHR = 2.22
  95% CI, 1.43-3.44
  p <
  0.001). There was no significant difference in 10-year IDFS between the non-BRCA1/2 PV carrier and noncarrier groups (aHR = 1.40
  95% CI, 0.67-2.93
  p = 0.37). Asian patients with breast cancer carrying germline BRCA1/2 PV, even those with a low recurrence risk, have significantly shorter 10-year IDFS than noncarriers.