Genetic Clinic Appointment
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Hello Eli,
I had genetic testing after my diagnosis for the BRCA1 and 2, Cowdens Syndrome and Le Fraumeni Syndrome. The last two were because I am had multiple cancers. All came back negative, which was a relief since I have two daughters that I was concerned about (as well as two sisters). I haven’t heard of Lynch Syndrome before but i am sure there are many many genetic tests and lots of other mutations that they can’t even test for.
Good luck with your results. I think it was quite a traumatic thing to go through, but worth it if it gives more information to our children.
-Randi-
My wife and I had an appointment at the Genetic Clinic the other day. We went there to discuss our daughter’s cancer risk.
I thought I’d post a field trip report…
We met a medical oncologist who specializes in genetic research and inherited cancers. The consultation lasted more than an hour. The doctor spent the first ~20 minutes interviewing my wife about her health history. She wanted to know every single ailment that my wife ever had. Very thorough interview.
Next, she spent half an hour drawing my wife’s family tree. She wanted to know major health issues of each person in my wife’s extended family. She went fairly deep (great grandfather) and fairly wide (second cousins). Four people in the extended family had cancers. We spent a few minutes discussing the details of each cancer case.
She offered us two genetic tests.
Test 1: Blood test for BRCA1 and BRCA2 gene mutations.
Families that have BRCA1/BRCA2 syndromes have more cases of breast and ovarian cancer, diagnosed at a younger age. BRCA1/BRCA2 can cause other types of cancers as well, including cholangiocarcinoma. The doctor said that CC caused by BRCA1/BRCA2 syndrome is rare. But, the blood test is easy to do, so why not do it.
Test 2: Tumor test for Lynch Syndrome.
Hereditary nonpolyposis colorectal cancer (HNPCC) is another name of the same condition. Families with Lynch syndrome have more cases of colon cancer than general population. Lynch syndrome has been linked to other cancers, CC being one of them. If I understood her correctly, Lynch syndrome can be caused by 100+ different genetic mutations. They can’t test them all in a clinical setting. They will test the four most common ones. To run the test, they will take a small bite out of my wife’s resected tumor.
We will have a follow-up appointment in 4-6 months. The doctor said that positive results are unlikely. Less than 5% chance that my wife has one of these syndromes. If results are positive (again, unlikely), we have an option to test the kid. There are pros and cons about that.
I will post an update after the follow-up.
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