P-ISSN 2587-2400 | E-ISSN 2587-196X
Ejmo Kapak
EJMO Volume : 6 Issue : 1 Year : 2022
EJMO. 2022; 6(1): 30-42 | DOI: 10.14744/ejmo.2022.88057

Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis

Akif Ayaz1, Sinem Yalcintepe2, Serhat Seyhan3, Fazli Cem Gezen4
1Department of Medical Genetics, Istanbul Medipol University, Faculty of Medicine, Istanbul, Turkey, 2Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey, 3Department of Medical Genetics, Biruni University, Faculty of Medicine, Istanbul, Turkey, 4Department of General Surgery, Istanbul Medipol University, Faculty of Medicine, Istanbul, Turkey,

Objectives: The aim was to point out the importance of the diagnosis rate of breast cancer (BC) by analyzing the cancer predisposition genes except BRCA1/2 with multigene testing. Methods: In this study, 232 non-BRCA cases with BC and/or BC family history (FH) were analyzed using the next-generation sequencing method. Results: Twenty-two different pathogenic/likely pathogenic variants were determined in 24 (10.34%) of cases, and these variants were detected in the CHEK2 (7/24, 29.1%), ATM (5/24, 20.8%), MUTYH (3/24, 12.5%), BLM (2/24, 8.3%), WRN (2/24, 8.3%), TP53 (1/24, 4.1%), BRIP1 (1/24, 4.1%), MSH2 (1/24, 4.1%), NBN (1/24, 4.1%), and PTEN (1/24, 4.1%) genes including three novel variants which were identified in the BLM, ATM, and MSH2 (3/22, 13.6%) genes. Fourteen of 24 (58.3%) cases had BC diagnosis, and 10 of 24 (41.6%) cases had a FH of BC. Conclusion: Among non-BRCA BC and/or BC FH cases, cancer susceptibility gene frequency was 10.34% in this study. CHEK2 and ATM genes had relatively high mutation rates. Keywords: Breast cancer, Cancer susceptibility, Non-BRCA1/2, Targeted gene analysis


Cite This Article

Ayaz A, Yalcintepe S, Seyhan S, Gezen F. Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis. EJMO. 2022; 6(1): 30-42

Corresponding Author: Akif Ayaz

Full Text PDF PDF Download
EJMO & EJMO