Genetic Predisposition to Breast Cancer: Understanding the role of Susceptible Genes and the impact of Hereditary Mutation

Breast cancer is the most frequently diagnosed cancer in women worldwide. In 2018, there were 2.1 million [2.0–2.2 million] recorded cases of breast cancer, re-sulting in 626,679 deaths (Sharma, 2021), while by 2020, an additional 2.26 million new cases were reported. Both benign and malignant tumors can develop in the breast. However, the vast majority of breast lumps are benign. Benign tumors are less life-threatening and less likely to spread, while malignant tumors can invade tissues and spread through the bloodstream or lymphatic system. Among several risk factors of breast cancer, heredity plays a main role and accounts for 5-10% of breast cancer cases. Positional cloning and genome-wide linkage analysis are tech-niques used to identify genes associated with specific traits or diseases. Positional cloning focuses on specific regions of DNA, while genome-wide linkage analysis examines the DNA of entire families. Both methods are used to narrow down the search for genes involved in inherited diseases. Based on the positional cloning and genome-wide linkage analysis, the two main breast cancer risk genes, BRCA1 and BRCA2, were identified together with other breast cancer susceptibility genes including CDH1, TP53, PTEN, NF1, STK11, PALB2, CHEK2, and ATM. This review dis-cusses the ten major or commonly known breast cancer susceptible genes and how variations in these genes could lead to breast carcinogenesis. Although progress has been made in identifying genes linked to breast cancer risk, more research is necessary to fully understand these genetic factors and improve prevention and treatment strategies.