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Genetic Sequencing

Hereditary breast cancer has been much in the news recently, what with Angelina Jolie revealing that she is a carrier of one of the dodgier BRCA mutations and having a double mastectomy. And bang on cue, the genetic consultant from Birmingham Women’s Hospital has been back in touch with our family to discuss next steps in investigating our family genetics, and its possible links to a cluster of cancers in all the women on my mother’s side of the family.

We’re all finding it absolutely fascinating, particularly since they have already ruled out the nastiest gene sequences. I find it particularly interesting that they’ve been able to track down and sequence the genes in samples from my 92-year old gran’s various tumours – she’s a tough old bird and has survived several bouts of cancer over the decades. In fact, I believe that the last one was so long ago that the hospital where she had the treatment has been knocked down since! But somewhere there must be a freezer full of samples, just awaiting advances in medical science to investigate them.

They’ve done enough testing so far to rule out the particularly pernicious mutations in the BRCA1 and BRCA2 genes. The official advice to me and my sister is to keep on with the mammogram screening programme, but that we shouldn’t be unduly worried. However, the team’s scientific curiosity has been piqued by some subtle changes in the genome in one of my gran’s tumours, which they think look particularly interesting and they want to investigate further. So now they are asking permission to do a full DNA sequence of her entire genome, to see what they can find. I think they’re hopeful of getting a scientific paper out of it, and reckon that a family of scientists would be sympathetic to that! Apparently our attitude is unusual – many of the women they see are very wary about allowing investigations and don’t want to allow the team to delve more deeply once the basics have been examined. But as a family we’ve got such a background in scientific research that we’re all for it – plus we find it very interesting.

So things will continue to progress very slowly, and we won’t expect to hear anything further back for several months. But it would be good if we as a family could help the team get a better understanding of the genetic underpinnings of familial cancer. After all, we’ve all suffered enough from cancer, either directly or supporting a relative through it, and I for one would get some satisfaction from helping to further research in the subject.