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Skip to 0 minutes and 10 seconds Hello, Mr. and Mrs. Peterson. Nice to see you again. Mhm. Your gene results are available. And, Mrs. Peterson, we have shown that you do you have a gene mistake, or a mutation, in your BRCA gene. In your BRCA1 gene. OK. I know that this result would be very disappointing for you both. Well, we had, I think, tried to prepare ourselves for that, didn’t we? We were suspicious. I did expect it because of my mum and my grandmother. But you sort of hope that– Of course. Of course. So what, you know, what do we do with that now, then? OK. So before we talk about what happens next, let’s just go back to the rest of your results.

Skip to 1 minute and 0 seconds Because, do you remember, you had the gene panel test. And we haven’t found mistakes or mutations in any of the other genes that we tested. We’ve only found a mistake in the BRCA1 gene. OK. And, looking at your family history that you gave me when I first met you, because your mum had young-onset breast cancer– and her mother did before her– they’ve almost certainly had a BRCA1 gene mistake that they’ve passed on to you. Mhm. And what this means for you is that you are at a greatly increased risk of developing both breast and ovarian cancer. Yeah. Now, Mr. Peterson, you’ve asked what happens now. Mhm. And there are two options from now. The first is breast screening.

Skip to 1 minute and 52 seconds And for anyone with a BRCA1 gene mistake we suggest that they have MRI scans every year. Now this doesn’t prevent cancer, but the aim of it is to pick up cancers at a very early stage.

Skip to 2 minutes and 9 seconds The second option is prevention. And some people with a BRCA1 gene mistake– Such as Angelina Jolie, huh? That’s right. They do choose to have bilateral mastectomies to remove their breast tissue, and subsequently have reconstruction, in order to greatly reduce their risk of developing a breast cancer. We’ve spoken, as well, about ovarian cancer and your increased risk of that. Mhm. We don’t suggest that people have their ovaries removed until they are over the age of 40, at the very least. And that’s because of the protective effects of oestrogen on the female body. OK.

Skip to 2 minutes and 56 seconds If I did go for the screening option, and if I did develop breast cancer knowing that it had come from the BRCA1 gene, would there be a specific treatment for that that might benefit me? At the moment, no. At the moment, anyone who develops breast cancer is treated in the same way according to the type of breast cancer they have and whether or not that cancer has spread. But trials are ongoing at the moment with a group of drugs what we call PARP inhibitors. And we hope that those trials will be successful, and we have reason to believe that they’ll be very successful in women with BRCA1 or BRCA2 gene mistakes.

Skip to 3 minutes and 36 seconds And we hope that, ultimately, that is how women with BRCA1 or BRCA2 gene mistakes will be treated. But at the moment those drugs are only being given on a trial basis. OK. Well, ideally, we’d– if we didn’t do the surgery– we would end up in one of these trials, I guess. Would it? You’d do the screening, and then if something happened and we’ve spotted something, then you get on a trial. Is that right? You get on a trial– Yeah. –or the idea is that these drugs will become licenced for use. In which case they’ll be given to everyone with a BRCA1 or BRCA2 gene mistake with cancer. Right.

Skip to 4 minutes and 11 seconds But right now it’s looking like if we find out, now that we have got this gene, it’s to be screened and then if something– or have surgery– and then act on any news from the screening. That’s right, yes. Now, you may want to join support groups for women who’ve got the same gene mistake as you. You may want to come back and talk to one of our genetic counsellors about how you feel. I know I’ve given you a lot of information today. Mhm. And these are other things that you might want to think about.

Mr and Mrs Peterson

In this video, Mr and Mrs Peterson receive her genetic test results and discuss the clinical management as a result of this genetic information.

Please note: Mr and Mrs Peterson are fictional characters invented for teaching purposes, and these clinical scenarios are designed to exemplify teaching points, rather than represent what would occur in the genetics clinic. Any resemblance to any real individuals is purely coincidental.

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The Genomics Era: the Future of Genetics in Medicine

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