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Genetic Testing – an update

The story do far – due to a very significant pattern of breast cancer going back several generations on my mother’s side of the family, my sister and I are on an annual mammography screening programme. Meanwhile, Birmingham Women’s Hospital are undertaking genetic sequencing of our grandmother’s tumour (stored by Liverpool hospital for over 30 years) to see what is going on. So far, I’ve been told that there is a mutation of “unknown significance” on the BRCA2 gene, and last I heard they wanted to sequence Gran’s full genome to see what they could find. We also believe that they have managed to track down tissue samples from my great-grandmother’s tumour from at least 60 years ago. Liverpool has a track record in keeping bits of tissue “just in case” (think of the Alder Hey scandal), but this is getting ridiculous!

I’ve not heard anything further directly, which is a bit narking as it is ostensibly me that is the patient. All the emphasis is now on my grandmother – though she is 93 and quite seriously unwell. Birmingham have been strictly instructed not to contact her directly in case they upset her, but always to go through my mother, who has power of attorney. We were therefore cross to find that Birmingham had completely ignored those instructions, and had phoned Gran to say that they had found all sorts of unidentifiable antibodies lurking in her bloodstream, and did she have any idea what they are? As it happens, Gran lived for many years in south and east Africa, so she could well have been exposed to all sorts of exotic viruses, but she has no idea what exactly she might have caught fifty years ago.

My mother had a check-up with her consultant recently, who was in a very chatty mood, so my mother mentioned the fact that Birmingham were investigating the genetic basis of the family’s breast cancer. At that point, the consultant started typing away on her computer, then leafing through her diary for what were clearly log-in details to little-used accounts. She was looking up the details of our case on the NHS computer network – presumably Birmingham must have put some case details on the system, because soon she had access to the medical notes. “Hmmmm” she said, “Mammograms are fine, but I do hope your daughters aren’t being advised to do anything drastic”. By which she meant having a prophylactic mastectomy, like Angelina Jolie.

According to the consultant, the particular mutation in question is being actively studied in London and on the Continent, but she doesn’t think that Birmingham know much about it yet – which makes me even more convinced that they are investigating it out of scientific curiosity. It is my sister’s and my strong suspicion that someone at Birmingham hospital wants to get a research paper out of us, and reckons that a family with a track record of scientific research is likely to be sympathetic to that. The consultant further told my mother that she was aware of the mutation as it was relevant to a particular research interest of hers – that of the relationship between cancer and ageing. Apparently, this particular variation of the BRCA2 gene does indeed predispose the carrier to breast cancer, but it is age related. And, moreover, the evidence suggests that the cancer appears later in each generation. That fits with our family history – my great-grandmother was in her 50s when she got it, my Gran in her 60s, and my mother in her 70s. According to the consultant, even if we turn out to be carriers, my sister and I shouldn’t have to worry about it until we are in our 80s, by which time we’d probably have something else wrong with us anyway!

All very interesting. But it’s a bit unsatisfactory that I’m hearing all this third hand, via my mother’s consultant in London nosing about on the Birmingham computer system. I haven’t personally heard anything from Birmingham Women’s Hospital for over a year.