hBreast cancer is a concern for many women, especially if there is a family history of breast cancer. It is natural to wonder if it runs in the family and whether genetics play a role. While not every case is hereditary, genetics can indeed influence breast cancer risk. 5-10% of breast cancer are due to hereditary predisposition. Let’s explore how breast cancer genes can impact the likelihood of developing this disease and the importance of genetic testing in identifying risks early.
What is Hereditary Breast Cancer?
Hereditary breast cancer refers to cases where the risk of developing breast cancer is passed down through families. About 5-10% 1 of breast cancer cases are linked to inherited genetic mutations. These mutations, especially in the BRCA1 and BRCA2 genes, significantly raise the chances of breast cancer. If multiple family members have had the disease, it’s possible that genetic mutations (changes) could be at play.
Familial Breast Cancer: What Does It Mean?
The term familial breast cancer refers to cases where breast cancer is seen across generations in a family, though it’s not necessarily due to an identified genetic mutation. Family history plays a major role in assessing breast cancer risk. Having a close relative, like a mother or sister, with breast cancer can increase the risk significantly of cancer.
It’s important to remember that while a family history of breast cancer might increase the risk, it is not 100% that you will develop the disease. Lifestyle factors, environmental exposures, and regular screenings also influence the overall risk. Even if the hereditary risk is not present, there is a general population risk of developing the cancer. In general, 12 in 100 women are at risk of breast cancer.
How Genetics Influence Breast Cancer Risk?
Mutations in certain breast cancer genes can significantly raise the risk of breast cancer. The most common genetic mutations are found in BRCA1 and BRCA2 genes. Women with these mutations have a 45-72% 2 chance of developing breast cancer by the age of 70, compared to the general population’s risk of about 12% 3.
Other genes, such as TP53, CHEK2, and PALB2, are also associated with familial breast cancer but to a lesser extent. Understanding whether you carry one of these mutations can help in making decisions about preventive measures.
| Gene | Associated risk | Comments |
| BRCA1 | 55-72% 4 by the age of 70 for breast cancer | Also linked to ovarian cancer |
| BRCA2 | 45-69% 5 for breast cancer | It may also raise the risk of pancreatic cancer |
| TP53 | Lower than BRCA1/2 but significant | Often involved in Li-Fraumeni syndrome |
| CHEK2 | Moderate risk increase | Found in both hereditary and non-hereditary cases |
Hereditary Breast Cancer: Risk Factors and Screening Options
If you have a family history of breast cancer, it’s crucial to discuss your risk factors with a healthcare provider and or genetic counsellor. Here are the key points to consider:
- Family History: Having close relatives with breast cancer, especially if they were diagnosed at a young age, could mean an increased genetic risk.
- Genetic Mutations: If mutations in BRCA1, BRCA2, or other genes are present, the risk of breast cancer rises significantly.
- Age and Gender: Women over 50 6 are more likely to develop breast cancer, but men with hereditary breast cancer genes are also at risk.
Importance of Genetic Testing
Genetic testing plays a critical role in finding whether someone carries the changes in cancer-predisposing genes that increase the risk of the disease. If there is a strong family history of breast cancer, testing for mutations in BRCA1, BRCA2, and other associated genes is often recommended.
Testing helps:
- Identify High-Risk Individuals: Those with a significant risk can start early screenings or take preventive actions.
- Inform Family Members: If one person in the family tests positive for a mutation, other members can be informed and tested if necessary.
- Guide Preventive Measures: Knowing the presence of a mutation can lead to preventive actions like enhanced screening, lifestyle changes, or even prophylactic surgeries.
- Guide Treatment options
Should You Get Genetic Testing?
If you have a family history of breast cancer and if multiple family members have had the disease, you may benefit from genetic counselling and testing. Genetic counselling helps in understanding the test results and deciding on further steps. For those who test positive for BRCA1 or BRCA2, regular screenings such as mammograms and MRIs may start earlier than usual.
Additionally, if you are considering genetic testing, options like the BRCA test are widely available. The BRCA test specifically checks for mutations in the BRCA genes, which are the most common in hereditary breast cancer.
| Testing Option | Purpose | Availability |
| BRCA Test | Checks for mutations in BRCA1 and BRCA2 | Widely available |
| Genetic Counseling | Helps interpret test results and plan next steps | Available through specialised clinics |
Conclusion
Breast cancer may be influenced by genetics, particularly when there is a strong family history of breast cancer. Knowing your risk through genetic testing and understanding your breast cancer genes can help in taking preventive actions. If you suspect hereditary risk factors, consult your doctor about screening options and the benefits of genetic counselling. Early detection and understanding of your genetic profile could make a significant difference in managing your health.
Enquire
Now 