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Rare BRCA1 c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer

  • Authors:
    • Chao Zhai
    • Long Jia
    • Chaoyang Wang
    • Liang Chen
    • Tuo Han
    • Dong Xiao
  • View Affiliations / Copyright

    Affiliations: Department of Thyroid and Breast Surgery, 3201 Hospital of Xi'an Jiaotong University Health Science Center, Hanzhong, Shaanxi 723000, P.R. China
    Copyright: © Zhai et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 301
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    Published online on: May 19, 2026
       https://doi.org/10.3892/ol.2026.15656
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Abstract

BRCA1 is among one of the most frequently mutated tumor suppressor genes in breast and ovarian cancer. In the present retrospective study, a novel heterozygous germline mutation, BRCA1 c.3418_3419insTGACTACT:p. S1140Mfs*18 (C>CAGTAGTCA), was identified in a family with breast and ovarian cancer via next‑generation and Sanger sequencing analysis and the health status of 18 individuals (three with breast cancer, one with ovarian cancer, one with gastric cancer, one with lung cancer, one with colorectal cancer, three with non‑cancer disease and eight healthy individuals) recruited from the 3201 Hospital of Xi'an Jiaotong University (Hanzhong, China) between September 2023 and January 2025 was examined. The aforementioned mutation occurred in four female patients with breast and ovarian and one healthy individual between September 2023 and January 2025, accounting for 27.78% (5/18) of the enrolled family members and 57.14% (4/7) of the patients with cancer. As of March 2025, the treatment of these patients with BRCA1 c.3418_3419insTGACTACT mutations have demonstrated notable therapeutic effects. In particular, in two patients who underwent neoadjuvant chemotherapy, surgical resection and targeted therapy, no recurrence or metastasis as of March 2025. Age risk was analyzed in the present cohort; the area under the curve was 0.9107 and the P‑value was 0.0078 between patients with cancer and healthy individuals. Age may also be a key factor that affects tumorigenesis in breast and ovarian cancer. In conclusion, BRCA1 c.3418_3419insTGACTACT:p.S1140Mfs*18 (C>CAGTAGTCA) heterozygous germline mutation may affect the occurrence and development of cancer.
View Figures

Figure 1

Pedigree of the multicancer family.
(A) Pedigree of the 18 family members. Arrow, proband. (B) Analysis
of BRCA1 insertion mutations in subjects 4, 6, 8 and 13. (C)
Analysis of BRCA1 insertion mutations in subjects 11, 12 and
13.

Figure 2

Patient treatment and follow-up. MRI
imaging (A) before and (B) following eight cycles of neoadjuvant
chemotherapy and targeted therapy for subject 13. (C) Treatment
plan for subject 13. Molybdenum imaging (D) before and (E)
following four cycles of neoadjuvant chemotherapy and targeted
therapy for subject 4. (F) Treatment plan for subject 4.

Figure 3

Cancer risk analysis by age. (A) Mean
age analysis. (B) AUC between patients with cancer (n=7) and (B)
healthy individuals (n=8) and (C) non-cancer diseases (n=11). AUC,
area under the curve.
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Copy and paste a formatted citation
Spandidos Publications style
Zhai C, Jia L, Wang C, Chen L, Han T and Xiao D: Rare <em>BRCA1</em> c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer. Oncol Lett 32: 301, 2026.
APA
Zhai, C., Jia, L., Wang, C., Chen, L., Han, T., & Xiao, D. (2026). Rare <em>BRCA1</em> c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer. Oncology Letters, 32, 301. https://doi.org/10.3892/ol.2026.15656
MLA
Zhai, C., Jia, L., Wang, C., Chen, L., Han, T., Xiao, D."Rare <em>BRCA1</em> c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer". Oncology Letters 32.1 (2026): 301.
Chicago
Zhai, C., Jia, L., Wang, C., Chen, L., Han, T., Xiao, D."Rare <em>BRCA1</em> c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer". Oncology Letters 32, no. 1 (2026): 301. https://doi.org/10.3892/ol.2026.15656
Copy and paste a formatted citation
x
Spandidos Publications style
Zhai C, Jia L, Wang C, Chen L, Han T and Xiao D: Rare <em>BRCA1</em> c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer. Oncol Lett 32: 301, 2026.
APA
Zhai, C., Jia, L., Wang, C., Chen, L., Han, T., & Xiao, D. (2026). Rare <em>BRCA1</em> c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer. Oncology Letters, 32, 301. https://doi.org/10.3892/ol.2026.15656
MLA
Zhai, C., Jia, L., Wang, C., Chen, L., Han, T., Xiao, D."Rare <em>BRCA1</em> c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer". Oncology Letters 32.1 (2026): 301.
Chicago
Zhai, C., Jia, L., Wang, C., Chen, L., Han, T., Xiao, D."Rare <em>BRCA1</em> c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer". Oncology Letters 32, no. 1 (2026): 301. https://doi.org/10.3892/ol.2026.15656
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