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ERCC3 Gene Associated with Breast Cancer: A Genetic and Bioinformatic Study
Xiangyu Chen1,2, Heng Xiao3, Shuangcheng Ning2
1Department of Pathology Changsha Hospital for Maternal and Child Health Care Hunan Normal University, Changsha, Hunan, China.
The Breast Journal
|January 1, 2025
Summary
A novel excision repair cross-complementation group 3 (ERCC3) gene mutation, p.Y116X, was found in a Chinese breast cancer family. This ERCC3 mutation may increase breast cancer risk and serve as a diagnostic biomarker.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Female breast cancer is a leading global cause of cancer-related mortality.
- The excision repair cross-complementation group 3 (ERCC3) gene is implicated in breast cancer susceptibility.
- Understanding ERCC3's role is crucial for diagnosis and risk assessment.
Purpose of the Study:
- To investigate the role of ERCC3 mutations in breast cancer development and pathological diagnosis in a Han-Chinese population.
- To analyze the association of ERCC3 gene alterations with clinical pathological features of breast cancer.
- To evaluate ERCC3 as a potential biomarker for breast cancer diagnosis.
Main Methods:
- Genetic analysis of 291 breast cancer patients and 291 controls from mainland China.
- Bioinformatic analysis to assess ERCC3 expression and its correlation with clinical features.
- Immunohistochemistry (IHC) to evaluate ERCC3 protein levels in tumor tissues.
Main Results:
- A novel ERCC3 mutation, p.Y116X, was identified in a breast cancer family.
- No significant frequency bias for common ERCC3 SNPs (rs754010782, rs371627165) was observed.
- ERCC3 expression negatively correlated with estrogen receptor (ER), progesterone receptor (PR), non-triple-negative status, and nodal status.
- ERCC3 amplifications and deletions were associated with specific breast cancer subtypes (NOS and metaplastic, respectively).
- Decreased ERCC3 expression was confirmed by IHC in patients with the p.Y116X mutation.
Conclusions:
- The ERCC3 p.Y116X mutation may confer an increased risk of breast cancer in the Han-Chinese population.
- ERCC3 gene alterations are associated with distinct breast cancer subtypes and clinical features.
- ERCC3 shows potential as a valuable biomarker for the pathological diagnosis of breast cancer.
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