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Iranian Journal of Breast Diseases
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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
2- Department of Cell and Molecular Biology, Faculty of Chemistry, University of Kashan, Kashan, Iran ,
3- Department of Medical Genetics, Kashan University of Medical Sciences and Health Services, Kashan, Iran
Abstract: (177 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.
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.
Keywords: Breast Cancer, Case Report, Genetic Mutation, SAMD9, TTK, BRAF, Hereditary Cancer, Whole-Exome Sequencing
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