Genetic testing

Eight more days until genetic counselling.  I am absolutely terrified about this appointment, but its mandatory before one can have genetic testing. 

A couple of days ago I had a draft of this post, but now I've cleaned it up a bit to focus on sorting out the statistics, which would help me to make sense of results.  In discussing this topic with friends and relatives over the last couple of months, I've realized that people are very split on the topic: some think I shouldn't find out, while others feel that knowing - whatever the results may be - will allow me to be proactive in taking care of my health and minimizing any cancer risks.  I used to fall into that former group, but am now a believer in the latter. We are most interested in the mutations associated with the BRCA1 and BRCA2 genes, the ones that are mainly responsible for causing hereditary breast and ovarian cancer. I feel that I need to know - good or bad.  If bad, I can do what I need to in order to decrease my risk.  If good, it'll be an immense load off of my shoulder.  To add insult to injury, people who have ovarian cancer and carry one of these mutations survive 16 months longer (they are starting to believe that those cancers may respond better to certain types of chemotherapy).  So, if my mom has the gene, things would look better for her.  And yet I desperately hope that I haven't inherited it.


General population's risk of developing cancer:

• Breast cancer: 13.3%
• Ovarian cancer: 1.7%
• Prostate cancer: 16.2%

BRCA1:

• Increases breast cancer risk to 50-85% if mutation is present.
• Increases ovarian cancer risk to 40-60% if mutation is present.
• Can cause infertility.
• Carried by less than 1% of the general population.
• BRCA1/2 can be carried by 80% of women who have two primary cancers (i.e., breast and ovarian).
• Carried more often by women whose breast cancers are estrogen and progesterone receptor negative (ER- and PR-). 

BRCA2:

• Increases breast cancer risk to 50-85% if mutation is present.
• Increases ovarian cancer risk to 10-20% if mutation is present.
• Carried more often by women whose breast cancers are estrogen and progesterone receptor positive (ER+ and PR+).  This was my mom's status for the breast cancer.

Reducing Risk:

• Many doctors are now saying that taking a birth control pill for 6+ years can have a 38% reduction in cancer risk, yet studies do not prove this yet.
• Removing ovaries, fallopian tubes, and anything else that makes you female can reduce cancer risk by up to 90%.  This is the option recommended to anyone who carries a BRCA1 or BRCA2 mutation.
• Chemoprevention - drugs given to decrease risk.
• Surveillance - while there is no screening available for ovarian cancer, the intent here would be to catch disease in earlier, more treatable stages.

Some other resources:

• In the Family - the film
• Options - scroll down to Hanke Sisters Learn About Their Options
• FORCE (Facing Our Risk of Cancer Empowered) message boards
• Wellspring
• BRCA1 mutation can cause infertility as well as breast cancer
• Susan G. Komen for the Cure - lots of info on breast cancer
• Cancer Guide
• 8-Action Cancer Prevention Diet Plan

Did you know?  Some random facts...

• More than 30% of cancer could be prevented, mainly by not using tobacco, having a healthy diet, being physically active and preventing infections that may cause cancer.
• Women who have had an abortion face a 2x greater risk of developing breast cancer and 2.3x greater risk of developing ovarian cancer.

Bottom line:
Cancer sucks.  This makes me sick to my stomach.