Family History + Gene Testing

I am concerned about my family history. What do I do?

Only 5-10% of breast cancers are due to an inherited gene. We provide a complete family history assessment, which includes stratifying the risk as per NICE guidance. You may be at population risk, moderate risk or high risk. We provide all the support, including careful surveillance with imaging (mammogram, MRI or both). We provide risk management strategies for patients at increased risk from genetic and or familial cancers.

Can I get gene test done?

Only the high risk group is currently eligible for gene testing. We thoroughly evaluate the family history in a multidisciplinary setting and provide complete care through counselling and support to reduce the risk.

What are these genes that can cause breast cancer?

The most common inherited mutated genes that increase the risk of breast cancer developing, are called BRCA1 (BReast CAncer1) and BRCA2 (BReast CAncer2). Inheriting an alteration in a gene called TP53 (tumour protein p53) also increases the risk.

Other genes are:

  • Peutz-Jegher (STK11 gene mutation)
  • Cowden’s syndrome (PTEN gene mutation)
  • Hereditary diffuse gastric (stomach) cancer (E-cadherin (CDH1) gene mutation

What is my risk of developing breast cancer if I am gene positive?

Altered (mutated) Gene | Condition | Lifetime Risk

BRCA1 | Hereditary Breast and Ovarian Cancer | 85%
BRCA2 | Hereditary Breast and Ovarian Cancer | 90%
STK11 | Peutz jeghers syndrome | 45%
TP53 | Li Fraumeni syndrome | 49% by age 60
PTEN | Cowden’s syndrome | 85%
CDH1 | Hereditary Diffuse Gastric Cancer | 39-60%

I am gene positive. Do I need surgery?

There is no need to rush. We provide full range support; image guided surveillance as per NICE guidance and treat all patients in a multidisciplinary setting. We specialise in carrying out risk reducing surgery and offer different types of immediate breast reconstruction as appropriate.

I have been refused gene test. Can I get it done privately?

Most breast cancers are not due to altered inherited genes. Gene test itself cause profound stress. We offer these tests after careful consideration by through counseling, evaluating risks vs. benefits. Again, multidisciplinary approach in this setting is important for assessment and management.