Genetic predispositions to developing an ovarian malignancy.
My name is Karen and I am an online community leader here on OCA Connect. I'd like to share my story, as I hope to start a conversation and raise awareness around having a genetic predisposition to potentially developing ovarian cancer.
Back in September 2014, aged 47, I was diagnosed with an ovarian malignancy. Clear cell carcinoma to be precise. My family is no stranger to cancer... my father had pancreatic cancer and back in 2000, one of my siblings, who is still alive and well, was diagnosed with bowel cancer at age 41. We have also discovered quite recently, that my mum had ovarian cancer back in the 1980's, when she was around 52 years old. Because both my sibling and I were under 50 years of age when we were diagnosed, my medical team and I discussed me having genetic testing to determine if there was a genetic mutation in our family that could account for these diagnoses. After being referred to a Familial Cancer Centre and having a meeting with a genetic counsellor to discuss the implications of the testing, I agreed without hesitation to having it done... not just for myself, but also for my family.
At the time, there was a lot of discussion and press regarding the links between mutations in the BRCA genes which can increase a persons chance of developing ovarian cancer and of course breast cancer. What wasn't and still isn't widely known, is that there are other inherited genes that could be altered and may increase your risk of developing these and other cancers. Lynch Syndrome was mentioned to me during my counselling session. I'd never heard of it before... When my genetic test results came in, which took about 8 weeks, I was advised that I have a mutation in my PMS2 gene. I have Lynch syndrome.
Before I go on, I really want to stress that having a genetic predisposition to developing a malignancy, DOES NOT mean that you will definitely develop one. It simply means that your chances are higher than that of the general population.
Lynch syndrome is a hereditary syndrome that can be caused by mutations in one of five different genes. Lynch syndrome affects both men and women. People with Lynch syndrome are at an increased risk to develop colorectal, uterine, and ovarian cancers, as well as other cancers of the gastrointestinal tract, urinary tract and even skin cancer. If someone has this condition, there is a 50% chance of them passing it on to their children.
Following my diagnosis, I spoke with my Mum & siblings (I have quite a few), who in turn also had genetic counselling. Some decided to be tested, some decided not to. My mum went ahead with the screening and tested positive. Some of my siblings also tested positive and some didn't. It really is a 50/50 chance.
So, what does having Lynch Syndrome mean?? For me, it means a fairly aggressive surveillance schedule, which includes a yearly colonoscopy, upper endoscopy, mammogram, check of 100% of my skin, cystoscopy and urine analysis. I also have annual CA125 testing, testing of other cancer markers and an appointment with my oncologist! I know that sounds daunting, it's a lot!!! However, being almost 7 years post my ovarian diagnosis, surgery and 6 months of chemo, I am completely cancer free and because of the annual screening that I have, if I do develop anything, it will be caught and dealt with early.
The key points I want to make are...
- If you can, find out and document the medical history of your parents, siblings and grandparents. Having this information is vital in determining what type of genetic testing may be done. BRCA testing and testing for Lynch syndrome are two separate tests and may not be carried out unless a family history warrants it being done.
- You know your body better than anyone else! If something doesn't seem right and you feel like your medical team are not hearing you, get a second opinion.
- Let your doctor know about ANY symptom you may be experiencing. What might seem small and unrelated to what you are going through to you, may make all the difference in any diagnosis and/or treatment.
- Until there's a test for ovarian cancer, raising awareness about the signs and symptoms is the vital. If you are able, please share them, far and wide.
- Having a genetic predisposition to developing a malignancy, does not mean you will. It just means your chances are increased.
I hope I have not overwhelmed anyone with my story. Please feel free to ask any question you may have! I am more than happy to answer if I can and if I can't will do my best to find someone who can.
Love and Light to All,