Breast cancer is a complex disease influenced by various factors, including genetics. Genes play a significant role in cell growth and function, acting as an instruction manual for our bodies. There are two types of DNA changes that can contribute to breast cancer risk – inherited DNA changes and somatic alterations that occur during one’s lifetime.

Inherited DNA changes, also known as germ-line alterations or mutations, are passed down from parents to children. One of the well-known inherited gene mutations associated with breast cancer is the BRCA gene mutation. BRCA1 and BRCA2 mutations can account for up to 10% of all breast cancers. Women with these mutations have a higher risk of developing breast cancer, with up to a 72% chance of diagnosis during their lifetime. These mutations are more common in younger women and may affect both breasts.

In addition to BRCA mutations, there are other high-risk gene mutations linked to breast cancer. The PALB2 gene mutation, for example, increases breast cancer risk by up to 58% by age 70 for those with a family history. PTEN and TP53 gene mutations are also associated with higher-than-average breast cancer risks, with PTEN mutation carriers having a 25% to 50% lifetime risk.

Moderate to high-risk gene mutations, such as ATM and CDH1, can also contribute to breast cancer risk. ATM mutation carriers have a 33% to 38% lifetime risk of developing breast cancer, while CDH1 mutation carriers have a 39% to 52% risk of invasive lobular breast cancer.

Meanwhile, moderate-risk gene mutations like CHEK2 and NF1 can increase breast cancer risk in women with a family history. The lifetime risk of breast cancer for women with CHEK2 mutations ranges from 28% to 37%. On the other hand, women with NF1 mutations have a nearly 60% risk of cancer overall, with a potential higher risk of breast cancer, especially before age 50.

Understanding the genetics of breast cancer is vital for identifying individuals at higher risk and providing appropriate screening and prevention strategies. Genetic testing can help assess a person’s risk based on family history and identify potential gene mutations that may contribute to breast cancer. Early detection and personalized risk management plans can make a significant difference in breast cancer prevention and treatment outcomes.

At Pink Ribbon, we strive to create awareness about breast cancer and provide support for affected individuals. Knowledge of genetic factors can empower individuals to take proactive measures for their health and well-being. Together, let’s raise awareness, support research, and work towards a future without breast cancer.