In the Genes

Before I get back to work I thought I should also give an update on what is happening currently in regards to the genetic testing.

The results are not yet back from the BRCA 1 and 2 blood test that was done late last year; I am told it will take 6 - 9 months from the time it was drawn to get those results back.

In the meantime, the genetics counsellor is working on seeing if there is any tumor tissue that was saved from my father that could potentially be tested. She has also requested my mother's medical records, with particular interest in the ovarian cancer diagnosis and if any tumor tissue was saved from that.

She sent me a request for information form for my paternal aunt's executor to sign and return so they can also access her medical records. This request gave me the chance to connect with a cousin from that side of the family that I never really knew, he has a few years on me. I felt hesitant asking but the request was met with a phone call and immediate consent. We caught up a little on each other's lives and I explained the two syndromes that the genetics counsellor is particularly interested in following up on. I'll give brief explanations of both that were given to me by the genetics clinic.

Cowden's Syndrome - Cowden's Syndrome is an automsomal dominant, hereditary cancer syndrome. it belongs to a set of syndromes known as the PTEN hamartoma tumor syndromes. The cardinal features include multiple hamartomas (moles, etc) of the skin and mucosa, macrocephaly (enlarged head) and a high risk for benign and cancerous tumors of the breast, thyroid and endometrium. The risk for breast cancer in individuals with PTEN mutation is estimated to be in the range of 25 - 50% (I have read later statistics that put the risk as high as 80%). The lifetime risk for thyroid cancer is about 10% and the risk for endometrial cancer, although not well defined may approach 5 - 10%. Increased incidence of kidney cancer, skin (melanoma) and colon cancer have also been reported. PTEN gene mutations are found in the vast majority of individuals with Cowden's Syndrome, although mutations in other genes have been reported in a small number of patients who have features of Cowden's Syndrome but do not meet diagnostic criteria for Cowden's.

Lynch Syndrome - Lynch Syndrome is an automsomal dominant cancer predisposition syndrome which accounts for about 2 - 5% of all cases of colon cancer. Patients with Lynch syndrome have a 50 - 80% risk of developing colon cancer. Colon cancers in Lynch syndrome are more likely to occur in the proximal colon and are often diagnosed earlier than colon cancers in the general population (average age 45). Women with Lynch syndrome are also at risk of developing endometrial cancer (30 - 60% lifetime risk) and ovarian cancer (10 - 12% lifetime risk). There is a small increased risk for a variety of other cancers including stomach, small bowel, pancreas, urinary tract, biliary tract and brain. These risks may vary depending on family history and which gene is involved.

Four genes are currently known to be associated with Lynch syndrome. These genes play an important role in DNA mismatch repair. Inherited mutations in three of these genes, MLH1, MSH2 and MSH6 account for the majority of families with Lynch syndrome. Immunohistochemistry (IHC) and microsatellite instability studies (MSI) are tumor screening tests that can help identify patients who may have Lynch syndrome. Diagnosis of Lynch syndrome ultimately relies on genetic testing to identify a mutation in a mismatch repair gene.

Lots of medical terminology, eh?

If the BRCA1 and 2 testing comes back normal, then they will bring me back in to be examined and go through some testing with a medical geneticist. In the meantime they will attempt to get the records for my aunt, father and mother. If they are able to obtain tumor tissue from my father they will do the IHC and MSI testing for Lynch syndrome on it. In the meantime the clinic has sent a letter to all my physicians which documents their suspicions and what they are doing and the screening that they are recommending for now.
I also received a copy of the letter for my records.

As I said in an earlier post, nothing seems to happen quickly in the genetics world.

On a different note, we had the privilege of babysitting Paisley and Charlie last evening. Paisley is growing up so fast! She is a little charmer and has definitely got Rod and Kenny wrapped around her little finger. She is sitting, crawling, pulling herself up to standing and getting back down again and has also added waving and clapping to her repertoire. She says dada and Hi, mom is just an m sound so far but who knows by next week at the rate she is going. At one point in the evening I had Paisley sleeping in my arms in the chair and Charlie felt he should be getting equal time so he jumped up and tried to settle in also. This woke Paisley up so he had to settle for Rod's lap but the minute Paisley's parents took Paisley from my arms on their arrival home Charlie was up in my lap looking for some loving of his own. Older siblings! ;)

This evening I will make it an early evening in preparation for a busy work week ahead.

Take care everyone!