Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
Double Heterozygosity of Brca2 and Stk11 in Familial Breast Cancer Detected by Exome Sequencing



Ataeikachouei M1 ; Nadaf J2 ; Akbari MT1 ; Atri M3 ; Majewski J4 ; Riazalhosseini Y4 ; Garshasbi M1
Authors

Source: Iranian Journal of Public Health Published:2015

Abstract

Background: Germ-line mutations of BRCA1 and BRCA2 genes are responsible for approximately 25-30% of domi-nantly inherited familial breast cancers; still a big part of genetic component is unknown. The aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. Methods: We applied exome sequencing as a useful approach in heterogeneous diseases gene identification in present study for familial breast cancer. Sanger sequencing was applied for validation and segregation analysis of mutations. Results: Here, we describe a family with three affected sisters of early-onset invasive ductal carcinoma due to hetero-zygous frame shift mutation rs80359352 in BRCA2 gene as the first report in Iranian patients in association with a novel missense SNP of STK11 (p.S422G). These mutations are inherited from their normal father. Conclusion: Despite apparent recessive pattern of inheritance a dominant gene (here BRCA2) can be involved in pathogenesis of hereditary breast cancer which can be explained by incomplete penetrance of BRCA2 mutations. © 2015, Iranian Journal of Public Health. All rights reserved.
Related Docs
View other Related Docs
1. The Human Cib1-Ever1-Ever2 Complex Governs Keratinocyte-Intrinsic Immunity to Β-Papillomaviruses, Journal of Experimental Medicine (2018)
2. Prevalence of Mutation in Brca1 Gene, Exons-2, 3, 5, 11 and Exons-20 in Breast Cancer for Early-Onset Detection in Tehran City, Journal of Pharmaceutical Sciences and Research (2017)
3. Gene Panel Testing in Hereditary Breast Cancer, Archives of Iranian Medicine (2020)
Experts (# of related papers)
View all Related Experts
Reza Malekzadeh (2)
Alireza Biglari (2)
Other Related Docs
4. Novel Brat1 Variant Associated With Neurodevelopmental Disorder With Cerebellar Atrophy and Seizure: Case Report and a Literature Review, Epilepsy and Behavior Reports (2024)
5. Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea, Inflammatory Bowel Diseases (2017)
6. Genomic Characterization of Lymphomas in Patients With Inborn Errors of Immunity, Blood Advances (2022)
7. Identification of Novel Functional Single Nucleotide Polymorphisms in the Brca1 Gene of Breast Cancer Patients, Iranian Journal of Science (2024)
8. Identification of Novel Mutations in Tpk1 and Slc19a3 Genes in Families Exhibiting Thiamine Metabolism Dysfunction Syndrome, Heliyon (2024)
9. Inter-Brct Linker Is Probably the Most Intolerant Region of the Brca1 Brct Domain, Journal of Biomolecular Structure and Dynamics (2023)
10. The Nccn Criterion Young Age at Onset Alone Is Not an Indicator of Hereditary Breast Cancer in Iranian Population, Cancer Prevention Research (2019)
11. A Single Nucleotide Polymorphism in the Aldh2 Gene Modifies the Risk of Esophageal Squamous Cell Carcinoma in Brca2 P.K3326∗ Carriers, PLoS ONE (2023)
12. A Comprehensive Reference for Brca1/2 Genes Pathogenic Variants in Iran: Published, Unpublished and Novel, Familial Cancer (2022)
13. Comparison of Brca1 Expression Between Triple-Negative and Luminal Breast Tumors, Iranian Biomedical Journal (2018)
14. Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases, Journal of Investigative Dermatology (2018)
15. Whole-Transcriptome Sequencing–Based Concomitant Detection of Viral and Human Genetic Determinants of Cutaneous Lesions, JCI Insight (2022)
16. Genomic Palaeoparasitology Traced the Occurrence of Taenia Asiatica in Ancient Iran (Sassanid Empire, 2Th Cent. Ce–6Th Cent. Ce), Scientific Reports (2022)
17. A Novel Homozygous Variant (C.5876T > C: P. Leu1959pro) in Dysf Segregates With Limb-Girdle Muscular Dystrophy: A Case Report, BMC Musculoskeletal Disorders (2024)
18. Cancer Genetics at a Glance: The Comprehensive Insights, Cancer Genetics and Psychotherapy (2017)
19. Mutations in Known and Novel Cancer Susceptibility Genes in Young Patients With Pancreatic Cancer, Archives of Iranian Medicine (2018)
20. Catecholaminergic Polymorphic Ventricular Tachycardia (And Seizure) Caused by a Novel Homozygous Likely Pathogenic Variant in Casq2 Gene, Gene (2024)