BRCA1, BRCA2, Breast cancer, Cancer, Chemotherapy, Genes, Genetics, Health, Mastectomy, Ovarian Cancer

The Geneticist

Yesterday I met the geneticist and took a blood test for the BRCA1 and BRCA2 genes. (BRCA stands for BReast CAncer). Unfortunately, I won’t find out the result for at least another 6-8 weeks, because the test involves extracting my DNA and going through it with a fine-tooth comb in search of a genetic ‘error’ – a process the geneticist likened to “Going through War and Peace and looking for a spelling mistake.”

The geneticist was one of the nicest doctors I’ve met so far during my cancer journey. He started by drawing a family tree with coloured circles for the instances of breast cancer and any other cancers in our family. Based on this, he said there is probably only a 20% chance that I carry one of the breast cancer genes, because my father’s side of the tree is clear of cancer and my mother and aunty have never had cancer. What makes it seem much more probable, however, is that my maternal grandma had breast cancer in her thirties, at a time in the 1960s when breast cancer in young women was even rarer than it is now. I feel instinctively that I have the gene, but I have been known to be wrong on occasion. :/

There was good news and bad news in what the geneticist told me. It is more likely that I have the BRCA2 gene than the BRCA1 gene, based on the type of breast cancer I had. (Grade III, oestrogen-receptor positive, HER2 negative). There are various differences between the two genes, but the positive takeaway for me was that BRCA2 means that it is less likely I will develop ovarian cancer at some point in my life than if I had BRCA1. Interestingly, he also said that BRCA2 gene carriers are much more responsive to chemotherapy.

The bad news is that, if I do test positive for BRCA2, I have a 60-80% chance of developing breast cancer again at some point in my life, compared with the 5% chance that most people have. I would also have an increased chance of developing ovarian cancer, but not until I’m over 40, so I could opt to have my ovaries removed in my 40s.

Double Mastectomy

The chemotherapy and radiotherapy I am having for my breast cancer will reduce the risk of developing another tumour in my left breast to about 30%, but unfortunately my right one would still have the 60-80% risk. Thus, the implication is that if I test positive for the BRCA2 gene, I will have to have a bilateral (i.e. both sides) mastectomy. I have already been thinking about this for a month or so and, although I never imagined I’d have to part with either of my boobs, I am fully prepared to have that operation and get some lovely new ones. It is, however, a huge operation that can involve a 6-month recovery period, but I’ll cross that bridge if and when I come to it.

The fertility specialist I spoke to a couple of months ago said that deciding to be tested for this gene was something many people wouldn’t want to do, but I made the decision pretty quickly that I absolutely want to know, so that I can take the appropriate risk-reduction measures and then get on with my life without the fear that I will develop a second breast cancer. (Note that this has nothing whatsoever to do with the likelihood of my current cancer recurring in a different part of my body at some point down the line – that is a separate matter, but I have been told that my programme of treatment gives me a 90% chance of being clear of recurrence for the next 10 years, which is a start).

As some of you may know, it is breast cancer awareness month in the UK (more of this in a later blog post) so I feel like breast cancer is absolutely everywhere I go at the moment – in every magazine and on lots of daytime TV talk shows, particularly! So I do at least feel that I am not alone. All I can do now is wait, but at least once I know whether I have the gene or not, I will then have the knowledge and power to act accordingly! Let’s just hope those lab doctors crack on with War and Peace and get me an answer ASAP.

In other news, I am feeling much better today. Returning to hospital yesterday for the appointment and test made me feel physically sick, but now, touch wood, I won’t have to go back for another two weeks and can concentrate on getting back to strength again. Time for some cooking therapy!