Genetics...

I know that genetics can be a cause of cancer, however, I really didn't think that would be the case in my situation and there is no significant cancer history in my family. So, when I saw that I had an appointment with the Genetic Counselor I really wasn't sure the reason but I thought that it was something that all people diagnosed with cancer had to do. I received the paperwork to fill out for this appointment about 2 weeks after I was diagnosed and it was about 10 pages. I had to fill out my medical info as well as all of my immediate families medical info on both my mom and dad's side. So, what did I do? I waited until the day before the appointment to call my grandmother and Jo Ann to get some medical info on family members. So, anyway, after rescheduling the appointment twice, I finally made it the third time. Third time is a charm I guess :) I arrived with my book of medical info ready for a 90 min appointment wondering what we could possibly talk about for that long. However, it ended up being very pleasant and informative with a really nice Genetic Counselor about my age and it was only 40 minutes. Ok, so I said it was informative and it was but genetics is not really my thing so honestly it was A LOT of information that I really wasn't following but was trying really hard to soak it all in. She talked about my family medical history and then talked about genes and my DNA and then she lost me! Luckily, at the end of the appointment she said that she would be sending me a letter summarizing all of the info so that I could read through it and all I could think was THANK THE LORD because I wasn't sure I could even tell Ryan what went on in the appointment.

When I got home I began to tell Ryan about the appointment but then finally said, " Just wait until I receive my letter from the Counselor in the mail so you can see it on paper." I received my letter and everything seemed so much easier to understand. It first stated that Dr. Nate referred me to this appointment because of my history of breast cancer at such a young age. I know, history seems like it took place so long ago but it is now considered history. Anyway, after that there is a lot of other info but then it talks about the fact that all cancers involve gene changes but not all cancers are inherited or passed from generation to generation in a family. At least 60% of all cancer cases are sporadic meaning they are not passed from parent to child and are due to genetic changes in the cell thought to be caused by environmental factors. She stated in the consult that because of the fact I do not have an extensive or significant family history of complex cancers, it looks like I am probably part of the sporadic group and my cancer was probably caused from something environmental. We also can assume this because of the BRCA1 and BRCA2 blood test that was done in the beginning. BRCA1 & BRCA2 tests mutations in genes and since there weren't any mutations the test was negative. These results also mean that I do not have an associated risk for ovarian cancer. Yay!! Outside of this though, I have the opportunity to take a larger panel of tests called the BRCAPlus that tests 12 other genes which could potentially tell me where my cancer came from if there is a mutation on a certain gene and it could tell me if I am at risk for any other cancers depending on if there are any other mutations that may be found. Now for the confusing part, the possible results ;)

Positive: there is a mutation in one of the genes which means there is an increased risk and possibility of other cancers

Negative: does not completely rule out the possibility of hereditary cancer. It may not detect every causative gene changes. It can also be due to a case of familial cancer which is impossible to be identified through a test. This would put us back where we are now, not really knowing anything different or significant.

Variant: uncertain significance which is a change in a gene that has not yet been classified as benign or disease-causing. This would mean that the significance of the gene changes is unknown.

Doing this test could give me answers or more questions but really if it is negative, then I am just right back where I am now which is fine :) So, I am going to have the blood test and see if I find out where my cancer came from or if I am at risk for any other cancers outside of anything that can be caused environmentally.

Sorry for the dry info but I just wanted to give an update as to what has gone on between chemo #3 & #4 which is Friday. Remember, chemo #4 is Valentine's Day but after that one I will only have 2 left!!!