Genetic Testing

I just read a news article about Angelina Jolie and how she had a double mastectomy and reconstruction surgery.  She was found to have the BRCA1 mutation.  To me this just shows how she was proactive to get the testing done and take action to protect herself from breast and ovarian cancer.  I think this is awesome!

In my situation I had genetic testing after my treatment ended after my first bout with ovarian cancer in March of 2011.  Genetic testing is very easy.  It is a simple blood test.  It is sent to a special lab and the results come back within a couple of months.  Before any testing I sat down with a genetic counsellor at the cancer centre.  We discussed my family history and all incidences of cancer within the family.  There are actually very few incidences in the family but I qualified for paid genetic testing by our provincial government because of my recent cancer and my age.  I was found to have the BRCA2 mutation.

Some background info:

90% of all breast and ovarian cancers are considered sporadic, due to a combination of factors such as age, lifestyle, environment and chance.  The average woman's lifetime risk of breast cancer is in the range of 8-12% or about 1 in 10, and the average woman's lifetime risk of ovarian cancer is about 1.5% or 1 in 70.  The remaining 10% of breast and ovarian cancers are considered hereditary, due to an inherited mutation in a cancer-related gene such as BRCA1 or BRCA2.  Mutations in the BRCA1 or BRCA2 genes are associated with a high lifetime risk of breast cancer and ovarian cancer in women, as well as male breast and prostate cancers and possible other cancers to a lesser degree.  For individuals who carry a BRCA1 or BRCA2 mutation, each of their children will have a 50% chance of inheriting this mutation and also be at increased risk for these cancers.

A POSITIVE result indicates that a mutation has been identified in BRCA1 or BRCA2 which is known to be associated with increased lifetime risk for breast (40-85%) and ovarian (20-40%) cancers, male breast and prostate cancers, and possible other cancers. Genetic testing would then be available to blood relatives.

This means my chances of breast cancer has greatly increased and with this information we can take preventative measures like Angelina Jolie.  We had several meetings with the genetic counsellor to discuss what this all means and you can imagine how stressful this is.  I have not chosen the same route as AJ but my screening for breast cancer has stepped up a couple of notches.  I have an annual mammogram and a MRI.  This is the standard for high risk screening.

What this also means is that I inherited this mutation from one of my parents and it was found to be my father.  It also means he is at higher risk for certain cancers.  This also means he is now screened more frequently than before.  It also means my siblings may be at risk as well. And my children......

With this information it also means that my father's siblings and their children and their children may be carrying this gene and this gives them the opportunity to have meaningful discussions with their own physicians.  But I know that even though the information is out there it does not mean that people take action.  This is why I am so impressed by what Angelina Jolie did and at her age.  It is a brave thing because it is human nature to deny and therefore delay.