Understanding breast cancer risk

Some individuals are at a higher risk of developing breast cancer due to their family history. If a first-degree relative such as a mother, sister, or daughter has been diagnosed with breast cancer, the risk is approximately twice that of the general population.

The risk increases further if:

• Multiple close relatives have had breast cancer
• A relative was diagnosed before the age of 50
• There is a family history of other cancers, such as ovarian, prostate, or pancreatic cancer

However, most women with a family history of breast cancer will never develop the condition.

Genetic mutations and breast cancer

In some families, an inherited faulty gene increases the likelihood of developing breast cancer. These gene mutations can be passed down from either parent.

The most well-known genes linked to breast cancer risk are BRCA1 and BRCA2. BRCA stands for BReast CAncer gene. Both BRCA1 and BRCA2 normally help repair DNA and prevent uncontrolled cell growth. However, if either gene has a mutation (fault), it can lead to an increased risk of breast, ovarian, and other cancers.

Other gene mutations that can increase breast cancer risk include:

• TP53 – linked to Li-Fraumeni syndrome, associated with a higher risk of multiple cancers
• PALB2 – works with BRCA2 to repair damaged DNA
• ATM – plays a role in DNA repair and cell growth
• CHEK2 – increases the risk of breast and other cancers
• STK11 – associated with Peutz-Jeghers syndrome, which raises multiple cancer risks
• PTEN – linked to Cowden syndrome, which increases the risk of breast, thyroid, and other cancers

Genetic testing for breast cancer risk

If you have a strong family history of breast cancer, genetic testing can help identify whether you carry a faulty gene. This involves a blood or saliva test to check for known mutations that increase breast cancer risk.

Understanding your genetic risk can provide valuable information to help you make informed decisions about your health.

Risk reduction options

If you test positive for a faulty gene, there are several ways to reduce the risk of developing breast cancer, including:

• Regular breast screening – earlier and more frequent mammograms or MRI scans can help detect cancer at an early, treatable stage
• Lifestyle changes – maintaining a healthy weight, exercising regularly, reducing alcohol intake, and avoiding smoking can lower overall cancer risk
• Medication – hormone-blocking drugs, such as tamoxifen or raloxifene, may help reduce the risk in some women
• Preventive surgery – some women opt for risk-reducing mastectomy, where breast tissue is removed to significantly lower the risk of developing cancer

A specialist can help you understand your personal risk level and discuss which options may be suitable for you.

When to seek genetic advice

If you have concerns about your family history of breast cancer, a consultation with a breast specialist can help. They will review your personal and family history, discuss genetic testing, and explore options for managing your risk.

You may want to seek genetic advice if:

• You have multiple close relatives with breast or ovarian cancer
• A family member was diagnosed with breast cancer under the age of 50
• A relative has tested positive for a known genetic mutation
• There is a history of other cancers linked to inherited gene faults

Checking your breasts

Regardless of genetic risk, regular breast self-examinations are essential. Being familiar with how your breasts normally feel makes it easier to notice any changes. If you detect a lump, persistent pain, nipple discharge, or skin changes, seek medical advice.

Why choose Birmingham Breast Clinic?

Birmingham Breast Clinic offers expert genetic risk assessment, testing, and personalised guidance for individuals concerned about their risk of breast cancer. Our specialists provide comprehensive screening and risk-reduction strategies tailored to your needs.

Contact us

If you are concerned about your family history of breast cancer or want to discuss genetic testing, our expert team is here to help.