by C

This is the article I needed to read when I discovered that many of my family had been diagnosed with breast disease. I now know that we probably carry a gene fault putting us at risk of familial breast cancer.

What is a gene?

Genes are the biological information passed on to us by our parents and affect everything about our bodies: the way we look, grow and function is contained in about 30,000 genes, each one containing information specific to us as individuals. DNA is the chemical coding which carries this information throughout our bodies.

Inheriting cancer risk.

Most cancers are the outcome of our genes and our lifestyle/environment working together. Fewer than 10% of cancers have an obvious link with a gene change and people with an inherited gene fault will not necessarily develop cancer: but they will be at increased risk of developing the disease compared with that of people without a gene fault. Everyone is at risk of developing some sort of cancer during their lifetime connected with lifestyle and environmental factors and the risk increases with age

Research.

Scientists are discovering new cancer-linked genes which will mean more effective screening. This will lead to better monitoring and preventative treatments. In the future it will be possible to map everyone's DNA; this will highlight hereditary cancers and remove much of the uncertainty surrounding current testing methods. Two genes have already been identified as being connected with an increased risk of hereditary breast cancer: these are called BRCA 1 and BRCA 2. Other gene markers for breast cancer are also being researched.

Am I at Risk?

Genetic testing may be available to families who fall within the guidelines set by the National Institute for Clinical Excellence (NICE); most hospitals adhere to these guidelines although some specialist departments such as at the Royal Marsden in London may offer places on clinical trials to individuals who have a particular family history. The guidelines for referral for breast cancer can be checked on their site at http://www.nice.org.uk/guidance/cg41. It is possible to be tested within the guidelines and still receive an inconclusive result which can be difficult in terms of preventative decision-making.

Discussion with the GP followed by possible referral to a hospital Genetics Department are the first steps to trying to find out whether or not there is a genetic involvement in a familial cancer. If testing is not currently possible (perhaps because there are no surviving family members with breast cancer) then the assessment will be done on family history; information will be gathered from the patient, the Cancer Registry and other sources of information such as death certificates, hospital notes etc.

If the family is found to be at higher risk of developing breast cancer because of their particular history, then various options may be offered depending on circumstances: these could include regular monitoring for early diagnosis using various screening methods, also drug and surgical preventative treatments.

The science of Genetics is still in its infancy but is progressing rapidly...the first baby selected as a BRCA gene-free foetus has been born to a BRCA gene-carrying family and will not have to face the the process of genetic investigation or the risk of familial breast cancer... for most of us at high risk though, there are difficult and lengthy procedures to go through and individuals within families may need much support and time in order to make the right risk-reducing decisions for them.