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Dergiler / Eurasian Journal of Medicine and Oncology / 2022 / Cilt: 6 - Sayı: 1

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

Akif AYAZ
Sinem YALÇINTEPE
Fazli Cem GEZEN
Serhat SEYHAN
Sayfa
30–42
Yayın Tarihi
2022-10-12
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

CHEK2 and ATM genes had relatively high mutation rates.

📌 3 Maddede Bu Makale

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Amaç & Hipotez: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.
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Temel Bulgular & Veri:Methods: In this study, 232 non-BRCA cases with BC and/or BC family history (FH) were analyzed using the next-generation sequencing method.
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Sonuç & Katkı:CHEK2 and ATM genes had relatively high mutation rates.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

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.

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Bu Makaleye Atıf Yap

AYAZ, A., YALÇINTEPE, S., GEZEN, F. C., SEYHAN, S. (2022). Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis. Eurasian Journal of Medicine and Oncology, Cilt: 6 - Sayı: 1, 30–42. https://ajindex.com/articles/509444

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Kaynakça (11)

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