31. Jan, 2016

Hi all,

On the 13th January I attended the Genetics Clinic at Barnsley hospital, I had bloods taken and a discussion with a Consultant in Clinical Genetics.

Today, I received this letter, summarising what had been discussed…..

Dear Lindzi,

I am writing to you following your visit to the Genetics Clinic. I was asked to see you by your doctor at Weston Park because of your diagnosis of breast cancer at the age of 32. You understand that your paternal grandmother also had breast cancer possibly in her 60s.

I explained that breast cancer is common and affects about 1 in 8 women. Most cases are not inherited but due to age and hormonal factors. However there are some families with inherited breast cancer. This is rare and accounts for less than 5% of all breast cancer. In those families we tend to see more women in the family with breast cancer than we would expect. They are often diagnosed at young ages and they may develop bilateral breast cancer. We also see women with ovarian cancer and occasionally men with male breast cancer and early prostate cancer. Since inherited breast cancer can increase the risk to develop breast cancer at younger ages than normal, developing breast cancer at young ages makes it more likely for there to be an inherited cause although this is by no means inevitable.

There are 2 genes that can cause inherited breast and ovarian cancer. These are called BRCA1 and BRCA2. Everybody has two copies of each of these genes. For each gene one copy comes from our mother and one copy from our father. Women who have a fault in one copy of either of these genes have somewhere between a 50-80% chance of developing breast cancer. Both genes also cause an increased risk for ovarian cancer. With BRCA! This is a 40% lifetime risk and with BRCA2 this is a 10% lifetime risk. When we have our children we pass on just one copy of each pair of genes and our partner passes on the second copy to the child. Therefore if an individual carries a fault in either BRCA1 or BRCA2 there is a 1 in 2 chance of passing on this fault to each child. The chance that you carry a fault in one of the BRCA genes is about 10%.

I took a blood sample from you so that we can test BRCA1 and BRCA2. There are a number of possible outcomes that we will get from testing. The most likely result is that we will get a normal result. This means that you will not have an increased risk to develop ovarian cancer. Your daughters will have a moderate increase in risk for breast cancer. The chances that they would get breast cancer at the same age as you would be around 1 in 100 but over their whole lifetime they would have an increased risk and currently the recommendation is that they would start breast screening from 40.

If we find a fault in one the BRCA genes, I will bring you back to clinic and discuss it fully with you. We would need to refer you to the gynaecology department so that you could discuss your options with regard to the increased risk for ovarian cancer. This includes screening by transvaginal ultrasound and a blood test once a year or removal of the ovaries. If we did identify a fault in one of the BRCA genes, we would have a test that we could off to your daughters when they are grown up to see whether they had inherited the fault themselves or not. If they had, we would offer them breast screening from 30.

Testing is currently taking about 3 months to complete and I will contact you as soon as we have the results.

Yours sincerely

Consultant in Clinical Genetics.


Excuse me, but that’s all I have to say to that right now, I have been to hell and back since June, and now there may be a chance that I could get ovarian cancer and my poor baby girls could be at risk too!!

I’m trying not to dwell on this letter too much until I’ve got the results of the test. I mean worrying is like a rocking chair right? Gives me something to do but doesn’t get me anywhere!

God forbid, I have got the faulty gene, I’ll tackle that when I get to it, and hope that the strength I have shown throughout it would guide my girls in the future if so be it!

I shall update you all when I get the results but until then,

Be Happy

Lindzi xxx