Ethics code: IR.KAUMS.REC.1404.006
1- Department of Cell and Molecular Biology, Faculty of Chemistry, University of Kashan, Kashan, Iran
2- Department of Cell and Molecular Biology, Faculty of Chemistry, University of Kashan, Kashan, Iran , rezvani@kashanu.ac.ir
3- Department of Medical Genetics, Kashan University of Medical Sciences and Health Services, Kashan, Iran
Abstract: (39 Views)
Introduction: Genetic mutations play a crucial role in breast cancer pathogenesis. While BRCA1/2 mutations are well-characterized, rare variants in other genes with moderate-to-low penetrance may also contribute to hereditary breast cancer risk, particularly in early-onset cases.
Case Presentation: A 38-year-old woman with invasive ductal carcinoma and axillary lymph node metastasis, with a strong family history of breast and prostate cancer, underwent whole-exome sequencing (WES).
Findings: WES identified a likely pathogenic frameshift mutation in SAMD9, predicted to disrupt tumor suppression, and two variants of uncertain significance (VUS) in TTK and BRAF.
Conclusion:This case underscores the value of WES in identifying rare variants for personalized risk assessment, targeted surveillance, and potential family screening in early-onset and familial breast cancer. Identification of rare variants can facilitate personalized risk assessment and guide clinical management.
Type of Study:
case report |
Subject:
molecular cell Received: 2025/01/30 | Accepted: 2025/04/29