article · Asian Pacific Journal of Cancer Prevention

Identification of BRCA1 and BRCA2 Germline Mutations in Female Breast Cancer Patients Using Next Generation Sequencing

Menha Swellam
Maha Abo Hashim
Amira M. Nageeb
Magdy E. Mahfouz
M. W. Sh. Mahmoud
Lobna R Ez ElArab
Mohamed K Khalifa
Madyha H Mahmoud
Aliaa Alisslam I A Alshazly
Mohamed Emam Sobeih

2026Open accessAin Shams University

Abstract

BRCA1 and BRCA2 germline profiling based on next-generation sequencing technology among Egyptian breast cancer female patients revealed 135 germline variations -104 intronic and 31 exonic, respectively. Among the exonic variants; 13 were newly reported mutations. Hence further study is required to enhance mutational analysis which may benefit clinical system.

Research topics

BRCA gene mutations in cancer
Genetic factors in colorectal cancer
Genomic variations and chromosomal abnormalities

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DOI: 10.31557/apjcp.2026.27.2.575

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