Hereditary Breast Cancer: Insights into Risk and Management

Dr. Sujoy Kumar Bala, Consultant – Surgical Oncology, HCG Cancer Centre, Kolkata 

Breast cancer is a disease that affects millions of women around the world. It usually develops in the breast cells and can spread to other parts of the body if not diagnosed and treated an early stage. Regular self-examinations and mammography are critical for early detection. Breast cancer risk factors include genetics, hormone levels, and lifestyle choices. While this type of cancer can occur for numerous reasons, in the minority of cases, genetic factors play a significant role. Hereditary breast cancer, caused mostly by mutations in the BRCA1 and BRCA2 genes, are the unique and difficult aspect of the disease. This article examines the risk factors for hereditary breast cancer and addresses the ways to manage it and helps individuals and healthcare providers to make informed decisions.

 Understanding Hereditary Breast Cancer 

 1.    Genetic Basis – The BRCA1 and BRCA2 genes are tumor suppressors that are responsible for repairing damaged DNA. Because of the inability to repair DNA damage effectively, mutations in these genes increase the risk of breast cancer. Individuals with such mutations have a significantly increased chance of developing breast cancer than the general population.

2.    Inheritance Pattern – Hereditary breast cancer is inherited in an autosomal dominant pattern. This indicates that if a person gets a mutant copy of BRCA1 or BRCA2 from one of their parents, they are more likely to develop breast cancer. As a result, each child of an affected person has a 50% chance of inheriting the mutant gene.

 Assessing Risk factors & Ways to reduce 

Genetic testing is an important tool in determining hereditary breast cancer risk. Individuals with a family history of breast cancer, particularly those diagnosed at a young age, as well as those with a history of ovarian cancer, should undergo genetic counselling and testing. Detecting BRCA mutations enables proactive risk management.

Individuals who have been identified as BRCA mutation carriers may consider various risk-reduction measures, including as increased surveillance, chemoprevention, or preventive surgery. To tailor the strategy to individual conditions, these decisions should be taken in cooperation with healthcare providers and genetic counsellors.

Ways to manage Hereditary breast cancer 

Frequent screening: Regular breast cancer screenings, such as mammography, breast MRIs, and clinical breast exams, are extremely important for early detection. Individuals with BRCA mutations may be subjected to these tests at an earlier age and with increased frequency.

Chemoprevention: Chemo-preventive medications, such as tamoxifen or raloxifene, can lower the occurrence of breast cancer in people who are at high risk. The use of these medications should be reviewed with a healthcare provider and weighed against the possibility of negative effects.

Prophylactic Surgery: Some people choose preventive mastectomy (breast removal) to greatly minimize their risk of breast cancer. This is a very personal decision that should be taken after a thorough counselling and consideration of the potential medical and emotional consequences.

Ovarian cancer risk: BRCA mutations increase the risk of ovarian cancer as well. Individuals with these mutations may want to undergo risk-reducing operations like bilateral salpingo-oophorectomy to mitigate their chance of developing the disease.