GENE MUTATIONS

Inheriting faulty versions or “variants” of these genes significantly raises your risk of developing cancer, because the altered genes cannot repair the damaged cells, which can build up and form a tumour.

BRCA1 and BRCA2 are two examples of genes that raise your cancer risk if they become altered. Having a variant BRCA gene greatly increases a woman’s chance of developing breast cancer and ovarian cancer. This was the reason Angelina Jolie had preventative breast cancer surgery, followed by ovarian cancer surgery. They also increase a man’s chance of developing male breast cancer and prostate cancer.

BRCA genes are not the only cancer risk genes. Researchers recently identified more than 100 new gene variants associated with an increased risk of breast, prostate and ovarian cancer. Individually, these new gene variants only slightly increase the risk of cancer, but a combination could mean a high risk overall.

If you or your partner have a high-risk cancer gene, such as an altered version of BRCA1, it can be passed on to any children you have. As finding such genes has implications for the whole family you should think carefully about the implications of testing for you and your family.

CANCER TYPES

Cancer is not usually inherited, but some types – mainly breast, ovarian, colorectal and prostate cancer – can be strongly influenced by genes and can run in families.

10-15% of most cancers in women and men are due to inherited genetic mutations.

Hereditary cancer is caused by an inherited genetic mutation. It is typical to see a recurring pattern of cancer across two to three generations—like multiple individuals diagnosed with the same type of cancer(s) and individuals diagnosed with cancer much younger than average.

Familial cancer refers to cancer that appears to occur more frequently in families than is expected from chance alone. While no specific mutation has been linked to these cancers, familial cancer may have a hereditary component that has not yet been identified.

Sporadic cancer refers to cancer that occurs due to spontaneous mutations that accumulate over a person’s life. Sporadic cancer cannot be explained by a single cause. There are several factors, such as aging, lifestyle, or environmental exposure, that may contribute to the development of sporadic cancer. We all carry certain genes that are normally protective against cancer – they correct any DNA damage that naturally occurs when cells divide.

How Do I Decide About Genetic Cancer Screening

The decision to have predictive genetic screening is a personal one and it is best to discuss the pros and cons first with a genetic counsellor one of our experts to through what having the test means, how you may feel and how you will cope with the results and what your options are then.

Advantages

• a positive result means you can take steps to manage your risk of developing cancer – you can make certain lifestyle changes to lower your risk, have regular screening or have preventative treatment

• knowing the result may reduce any stress and anxiety that comes from not knowing

Disadvantages

• the results of some genetic tests are inconclusive – doctors may identify a variation in a gene, but not know what effect it may have

• a positive result may cause permanent anxiety – some people would rather not know about their risk and only want to be told if they actually develop cancer

How Mutations Impact on Cancer Risk for Women

Mutations are rare, but when they exist, they significantly increase cancer risk.

A mutation can greatly increase a woman’s risk for developing hereditary cancer.

BRCA1 mutation can increase the chances of breast cancer up to 81% and ovarian cancer up to 54% by age 80.

Mutations in the BRCA1 and BRCA2 genes are rare—found in approximately 1 in 300 individuals in the general population and in 2% of Ashkenazi Jewish individuals — but they significantly increase the chances of cancer.

Mutations in other genes are more common, but have less of an effect on the risk of developing hereditary cancer.

NICE Recommendations

In 2013, NICE recommended that anyone with more than 10% chance of having a mutation in either the BRCA1 or BRCA2 gene should be offered BRCA testing. This includes more than 70% of all women with ovarian cancer. To find out your personal risk of having a positive BRCA1 or 2 gene and whether or not you qualify for NHS testing, you can discuss this with your GP, ask for a Genetic Counselling referral or online using the BRCA Risk Tool that has been developed by Ovarian Cancer Action.

However, many women are not receiving BRCA testing due to:

• Limited capacity

• High costs

• Complex referral processes

Until recently, private testing has proven to be expensive and was often not supported by genetic counselling.

Genetic Cancer Screening – Color Genomics

Color Genomics world-class team uses state-of- the-art next-generation sequencing technology to analyse 30 genes to help you understand your hereditary risk for 8 common cancers and full details of the test are provided in their patient information leaflet.

The Color Test is a saliva sample test analyses the most relevant genes for mutations that could increase your hereditary cancer. There are two test options.

Color 19 – tests for 19 genes for hereditary risk of breast and ovarian cancer .

Color 30 – tests for 30 genes for hereditary risk of breast and ovarian cancer and also colorectal, melanoma, pancreatic, prostate, stomach, and uterine cancer.

Results are backed up by their support team of certified genetic counsellors as well as online, email and telephone support.