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  • Dr. Pragati Singhal
  • 9 April 2024

Breast cancer is a complex disease influenced by both genetic and environmental factors. While only about 5% to 10% of breast cancers are considered hereditary, understanding your family history and genetic predispositions can play a crucial role in early detection and prevention. In this blog, we'll delve into the significance of family history, the role of inherited genes like BRCA1 and BRCA2, and the importance of genetic testing in assessing breast cancer risk.


A Window into Genetic Risk

Having a family history of breast cancer can significantly elevate one's risk of developing the disease. Research indicates that individuals with a first-degree relative diagnosed with breast cancer have approximately twice the risk compared to those without such a history. The risk escalates further if multiple close relatives have been affected or if the cancer occurred at a young age.

Identifying individuals with heightened risk due to family history is critical for early intervention. UK guidelines provide a framework for healthcare professionals to assess familial risk factors and recommend appropriate screening for genetic testing. Factors such as early-onset breast cancer, bilateral breast cancer, ovarian cancer in the family, or specific ethnic backgrounds may prompt referral to specialized clinics for further evaluation.


Unraveling the BRCA Genes

Among the genes associated with hereditary breast cancer, BRCA1 and BRCA2 stand out prominently. These genes play a crucial role in repairing cell damage and maintaining normal cell growth. However, mutations in BRCA1 or BRCA2 can disrupt these functions, leading to an increased risk of breast, ovarian, and other cancers.

Individuals carrying BRCA1 or BRCA2 mutations face a substantially higher lifetime risk of breast cancer compared to the general population. Moreover, these mutations may also predispose individuals to ovarian, colon, pancreatic, and prostate cancers. Understanding one's genetic makeup, especially in families with a history of early-onset breast cancer or multiple cancer types, can provide valuable insights into personalized risk assessment and management strategies.

The Role of Genetic Testing

Genetic testing has revolutionized the way we approach breast cancer risk assessment. By analyzing DNA for specific mutations, healthcare providers can identify individuals with an inherited predisposition to the disease. This knowledge empowers individuals to make informed decisions regarding proactive screening, risk-reducing surgeries, or preventive measures such as lifestyle modifications or chemoprevention.

However, it's essential to recognize that genetic testing isn't a one-size-fits-all solution. Decisions about testing should be based on a comprehensive evaluation of family history, personal risk factors, and individual preferences. Genetic counselling plays a crucial role in this process, providing emotional support, education, and guidance throughout the testing journey.


Exploring Rare Genetic Mutations

While BRCA1 and BRCA2 mutations account for a significant proportion of hereditary breast cancers, other genes also play a role, albeit less frequently. Mutations in genes like TP53, PALB2, ATM, and CHEK2 have been associated with increased breast cancer risk, albeit to a lesser extent. Although these mutations are rare, they underscore the complexity of genetic influences on breast cancer susceptibility.

In conclusion, understanding the interplay between family history, genetic predispositions, and environmental factors is crucial for effective breast cancer prevention and early detection. By leveraging advances in genetic testing and personalized medicine, we can empower individuals to take proactive steps towards reducing their risk and improving outcomes in the fight against breast cancer.

"With Compassion & Expertise, Dr. Pragati Singhal Guiding You Towards Recovery"


Breast Cancer Basics Women's Health Prevention and Wellness Hereditary Risk Genetic Testing