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Perspectives on the role of breast cancer susceptibility gene in breast cancer

  • Original Article
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International Journal of Clinical Oncology Aims and scope Submit manuscript

Abstract

Purpose

Breast cancer susceptibility gene 1/2 can repair damaged DNA through homologous recombination. Besides, the local immune microenvironment of breast cancer is closely linked to the prognosis of patients. But the relationship of breast cancer susceptibility gene 1/2 expression and local immunosuppressive microenvironment in breast cancer is not clear. The aim of this study was to discuss the correlation between them.

Methods

The fresh primary breast tumors and paired normal tissues of 156 cases of breast cancer patients as well as peripheral blood of 156 cases among them in Tianjin Medical University Cancer Institute and Hospital from January 2014 to October 2018 were collected. The association between breast cancer susceptibility gene 1/2 germline mutation and immune status of microenvironment in situ was analyzed.

Results

The results indicated that the germline mutation of breast cancer susceptibility gene 1/2 was inconsistent with the breast cancer susceptibility gene 1/2 protein expression, and the proportion of immune cells in patients with negative expression of breast cancer susceptibility gene 1/2 protein was higher than patients with positive expression of breast cancer susceptibility gene 1/2 protein (p < 0.05). And the expression of programmed cell death protein 1, cytotoxic T-Lymphocyte Antigen 4, programmed death ligand-1 of CD3+ T cells in patients with negative expression of breast cancer susceptibility gene 1/2 protein was higher than patients with positive expression of breast cancer susceptibility gene 1/2 protein (p < 0.05). The breast cancer susceptibility gene 1 protein expression was significantly correlated with family history of breast cancer patients (p = 0.006), local lymph node metastases (p = 0.001), and TNM staging (p ≤ 0.001). The breast cancer susceptibility gene 2 protein expression was significantly related to local lymph node metastases (p ≤ 0.001), III stage rate(p = 0.003) and molecular subtyping (p ≤ 0.001).

Besides, the 5 years disease free survival was worse for G1 group and pathological III stage patients than other groups and other TNM stage patients.

Conclusion

In short, the immune therapy may be a potential therapy method for breast cancer patients with negative expression of breast cancer susceptibility gene 1/2 protein.

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Availability of data and material

The datasets used during the current study are available from the corresponding author on reasonable request.

Data transparency

All authors report that all data and materials as well as software application or custom code support our published claims and comply with field standards.

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Acknowledgements

We thank Li Dong, Yingnan Ye for technical assistance.

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None.

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Author notes

  1. Nan Wu and Lijuan Wei and Lijuan Li have contributed equally to this work.

Authors and Affiliations

  1. Cancer Prevention Center, Key Laboratory of Cancer Prevention and Therapy, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tiyuanbei, Huanhuxi Rode, Hexi District, Tianjin, 300060, China

    Nan Wu, Lijuan Wei, Lijuan Li, Fangxuan Li & Juntian Liu

  2. The Second Department of Breast Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin, 300060, China

    Juntian Liu

  3. The Molecular Diagnostics, Key Laboratory of Cancer Prevention and Therapy, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tiyuanbei, Huanhuxi Rode, Hexi District, Tianjin, 300060, China

    Jinpu Yu

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Contributions

JL and JY performed study concept and design; NW and LW development of methodology and writing, review and revision of the paper. FL and LL provided acquisition, analysis and interpretation of data, and statistical analysis.

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Correspondence to Jinpu Yu or Juntian Liu.

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The authors report no conflicts of interest for this work.

Ethical approval

This research project was approved by the Ethics Committee of Tianjin Cancer Institute and Hospital. Ethics approval for breast tumors, paired normal tissues as well as peripheral blood: use of breast tumors, paired normal tissues as well as peripheral blood was approved by the ethics committee of the Ethics Committee of Tianjin Cancer Institute and Hospital.

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Written informed consents were obtained from each patient in accordance with the Declaration of Helsinki. Written consents were obtained from each patient to publish the pathological tissue images as representative figures.

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Wu, N., Wei, L., Li, L. et al. Perspectives on the role of breast cancer susceptibility gene in breast cancer. Int J Clin Oncol 27, 495–511 (2022). https://doi.org/10.1007/s10147-021-02098-1

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