Hereditary Breast Cancer Genomics

This project focuses on understanding the genetic and epigenetic predispositions to breast cancer in Saudi women by applying both short-read and long-read sequencing technologies. Breast cancer is the most common cancer among women globally and in Saudi Arabia, with cases often presenting at a younger age and in more advanced stages compared to other populations. Current genetic studies in the region have mostly relied on short-read sequencing, which can detect small genetic changes but fails to capture larger structural variations that also play a critical role in cancer susceptibility.

To address this gap, our study will sequence DNA samples from Saudi breast cancer patients to identify single nucleotide variations, small-scale insertions or deletions, and large structural variations in cancer predisposition genes. The goal is to establish a detailed catalog of pathogenic and likely pathogenic variants specific to breast cancer in Saudi population, determine their frequency and potential founder effects, and improve genetic risk assessment.

This work is significant because it will expand knowledge of breast cancer in a population that has been underrepresented in global studies. By uncovering genetic and epigenetic markers unique to Saudi breast cancer patients, the study is expected to contribute to the development of population-specific screening panels, early detection strategies, and improved counseling for high-risk families. This project aims to bridge an important knowledge gap in cancer genomics, align with national healthcare priorities, and support better outcomes for breast cancer patients in Saudi Arabia.