Gene Mutations and Cancer

Hi all,

I hope you are all well on this freezing cold Monday morning. Winter is defineatly here! I apologise for the lack of blog posts recently - life has been pretty busy! I think I've managed to catch up with myself so I should be able to start paying the blog some proper attention again.

Recently I have been reading a lot about gene mutations in the UK press. Coming from a family that suffered from TWO gene mutations, I take a special interest in this type of article. I think it's great that more awareness of these gene mutations is being created in the press and thought I should do a blog post about some of the mutations.

Please remember that although I research my blog posts very carefully, I am not medically trained. So if you are worried about anything you read on this blog - please do consult a medical professional.

BRCA

The gene mutations we hear about the most are the BRCA’s. These are mutations of the BRCA1 and BRCA2 genes. Whilst uncommon, these gene mutations are linked to hereditary breast and ovarian cancer in families carrying these mutations. However, it is important to note that the mutation is uncommon and breast cancer is very common so not all cases of breast cancer are caused by the gene mutation. In fact only about 10% of breast cancer cases are due to a BRCA gene mutation.

There are many many different types of BRCA mutations; some being higher risk then others. These high risk mutations can increase a woman’s chance of developing breast, ovarian and other types of cancer by up to FIVE times more then the average person. HOWEVER, having a high risk mutation doesn’t guarantee you will be diagnosed with cancer but it does mean you will need to be monitored very closely.

Both men and women can carry the BRCA gene mutations and they can be passed on to children of both sexes. A child of a genetic carrier of the BRCA gene mutation has a 50% chance of inheriting the mutation. Half of the people with the mutation are male and it can lead to a higher chance of developing prostate, colon and pancreatic cancer.

Some ladies diagnosed as having a BRCA mutation may wish to remove their breasts, ovaries and fallopian tubes to minimise their risk of developing breast and/or ovarian cancer wheras others may wish to avoid this radical surgery and have very careful and frequent screening instead. Others may wish to try other preventative avenues such as Tamoxifen.

For more information on the BRCA gene mutations please visit http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

If you are worried you may be at risk of having a BRCA gene mutation please see your GP and ask to be referred to a genetic counsellor.

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TP53 Disorders

Georgie, my beloved cousin, suffered from Li Fraumeni Syndrome, a form of TP53 gene mutation. I have written a blog post about this in the past which you can read here: http://pennysophia.blogspot.co.uk/2012/06/blog-post-100-tp53-and-li-fraumeni.html

The basic facts are:

The TP53 Gene:

The TP53 gene acts as a tumour suppressor. It creates the p53 protein which kills cancerous cells. When the TP53 gene fails, the body loses one of its key ways of stopping damaged cells developing into cancer. Some people with cancer find their TP53 gene is damaged within the tumours but is functioning normally throughout the rest of their body. However, some people are born with a damaged TP53 gene. This is usually an inherited problem and it passed down from parent to child. These people have a very very very high risk of developing cancer.

Li Fraumeni Syndrome:

LFS is one of the most serious kinds of inherited TP53 disorders. It is a rare disorder that greatly increases the sufferers risk of developing several kinds of cancer especially children and young adults. The most common cancers associated with LFS are: breast cancer, osteosarcoma (a type of bone cancer) and soft tissue sarcomas.

To learn more about this type of gene mutation please visit www.tp53.co.uk

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Gene mutations are scary and not much is known about them. It is important that people are aware of them and that people who may be at risk, are seen by a genetic counsellor. If you do find you have a gene mutation then you will need to be extra vigilant with your health and you may need more frequent screening then other people.

Please do follow the links I have provided if you have any questions at all about gene mutations.

xxx