Novel inherited mutations in genes that associated with breast cancer in Saudi population


Session type:

Yousef M Hawsawi1,Edward Cupler21,Abdelrazak Meliti1,Hosam Alardati1
1King Faisal Specialist Hospital and Research Centre-Jeddah



Breast cancer is among the most common prevalent types of cancers in the global population. In Saudi Arabia, breast cancer accounts for 19.9% of the total cancer-related deaths in women. Inherited mutations in several genes are well documented to be associated with increased risk of breast cancer. However, the definite role of the reported genes is not fully understood. The aim of this study is to investigate the role of inherited mutations that are associated with breast cancer in the Saudi female population.


Formalin-fixed paraffin-embedded (FFPE) tissue samples were retrieved for 41 ER+ breast cancer patients admitted to KFSHRC-Jeddah. Genomic DNA was extracted using the Qiagen FFPE kit. 100ng of each DNA sample were used for library preparation using Ion AmpliSeq™ Library Kit Plus with a Saudi Inherited Cancer Panel. The Ion Torrent Proton platform was used for DNA sequencing using the Ion PI™ Hi-Q™ Sequencing 200 Kit.


A total of 60 candidate variants and casual genes were identified in Saudi females diagnosed with ER+ breast cancer. The variants with the highest frequency were in the following genes; NF1, PALB2, ATM and PRSS1. All variants were heterozygote exonic variants and were classified as pathogenic or as uncertain significance.


Screening of gene variants help in understanding the risk associated with mutations of breast cancer in the Saudi population. This data is used for establishing a high-throughput NGS molecular profiling for Saudi breast cancer patients.