Abstract
AbstractWhole-genome sequencing (WGS) and whole-exome sequencing (WES) are crucial within the context of breast cancer (BC) research. They play a role in the detection of predisposed genes, risk stratification, and identification of rare single nucleotide polymorphisms (SNPs). These technologies aid in the discovery of associations between various syndromes and BC, understanding the tumour microenvironment (TME), and even identifying unknown mutations that could be useful in future for personalised treatments. Genetic analysis can find the associated risk of BC and can be used in early screening, diagnosis, specific treatment plans, and prevention in patients who are at high risk of tumour formation. This article focuses on the application of WES and WGS, and how uncovering novel candidate genes associated with BC can aid in treating and preventing BC.
Publisher
Springer Science and Business Media LLC
Reference53 articles.
1. Ghose A, Stanway S, Sirohi B, Mutebi M, Adomah S. Advanced breast cancer care: the current situation and global disparities. Semin Oncol Nurs. 2024;40: 151551. https://doi.org/10.1016/j.soncn.2023.151551.
2. Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71:209–49. https://doi.org/10.3322/caac.21660.
3. Cancer Research UK. Breast cancer statistics. 2015. Available at: https://www.cancerresearchuk.org/health-professional/cancer-statistics/statistics-by-cancer-type/breast-cancer#heading-Four. Accessed 07th March 2024.
4. Albeshan SM, Hossain SZ, Mackey MG, Brennan PC. Can breast self-examination and clinical breast examination along with increasing breast awareness facilitate earlier detection of breast cancer in populations with advanced stages at diagnosis? Clin Breast Cancer. 2020;20:194–200. https://doi.org/10.1016/j.clbc.2020.02.001.
5. Ghose A, Basak S, Agarwal T. Self-breast examination for breast cancer screening: the Indian story. Indian J Cancer. 2022;59:1–3. https://doi.org/10.4103/ijc.ijc_447_22.