Vol. 3 No. 1 (2026)

Research Articles

The Role and Significance of BRCA1 c.4712delT Mutation in Ovarian Cancer

Published 2026-01-31

  • Jingwen Zhong
    • ,
  • Xinjun Long
    • ,
  • Faqing Tang
    • ,
  • Ming Zhou
    • ,
  • Mengna Li
    • ,
  • He Li
    • ,
  • Lemei Zheng
    • ,
  • Ma Xia
    • ,
  • Yinghua Li
    • ,
  • Lin Zhou
    • ,
  • Chenghao Yuan
    • ,
  • Cong Yi
    • ,
  • Hongyu Deng

Jingwen Zhong
Xiangya Hospital Central South University image/svg+xml

Xinjun Long
Central South University image/svg+xml

Faqing Tang
Central South University image/svg+xml

Ming Zhou
Hunan Cancer Hospital image/svg+xml , Central South University image/svg+xml

Mengna Li
Central South University image/svg+xml

He Li
Central South University image/svg+xml

Lemei Zheng
Central South University image/svg+xml

Ma Xia
Hunan Cancer Hospital image/svg+xml

Yinghua Li
Hunan Cancer Hospital image/svg+xml

Lin Zhou
Changsha Medical University image/svg+xml

Chenghao Yuan
Central South University image/svg+xml

Cong Yi
Changsha Medical University image/svg+xml

Hongyu Deng
Central South University image/svg+xml

Abstract

Objective: To investigate the mutation status of BRCA1 c.4712delT in patients with sporadic ovarian cancer and to analyze its clinical significance in relation to clinical indicators such as HE4 and CA125.

Methods: 1)The BRCA1 c.4712delT mutation status in patients with sporadic ovarian cancer and healthy individuals was detected using Restriction Fragment Length Polymorphism (RFLP) and Sanger sequencing. 2)Statistical analyses were conducted to assess differences in age, tumor markers, and coagulation function between ovarian cancer patients and healthy individuals, as well as between BRCA1 c.4712delT-mutated and non-mutated ovarian cancer patients.

Results: This study enrolled 209 ovarian cancer patients and 213 healthy individuals undergoing routine health checkups. In sporadic ovarian cancer patients, the BRCA1 c.4712delT mutation frequency was 1.67%, slightly higher than the 0.47% frequency in the healthy population; however, the difference was not statistically significant (P = 0.103). Levels of age, HE4, and CA125 showed statistically significant differences between ovarian cancer patients and healthy individuals. No statistically significant differences were observed in age, HE4, CA125, PT, APTT, TT, FIB, D-D, personal cancer history, family history, lymph node metastasis, pathological grade, or clinical stage between the BRCA1 c.4712delT-mutated and non-mutated groups. Bioinformatics analysis predicted that the BRCA1 c.4712delT mutation is deleterious. An ovarian cancer risk model established based on age, HE4, CA125 levels, and BRCA1 c.4712delT mutation status demonstrated that the combined model incorporating all factors yielded the best diagnostic efficacy for predicting ovarian cancer risk.

Conclusions: 1)The mutation frequency of BRCA1 c.4712delT in ovarian cancer patients is 1.67%. 2)Changes in serum levels of the tumor markers HE4 and CA125 serve as effective indicators for the early diagnosis of ovarian cancer. 3)BRCA1 c.4712delT mutation detection is a potential indicator for the early diagnosis of ovarian cancer.

Keywords

Ovarian cancer, BRCA1 gene, Gene mutation, Clinical diagnosis

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