The BBC gets it wrong

Wow, this BBC article about breast cancer and embryo screening gets it wrong big-time.

[H]e said that, in this case, not carrying the BRCA1 gene would not guarantee any daughter born to the couple would be unaffected by breast cancer because there are other genetic and environmental causes.

Bzzzzzzzt. Sorry. This science reporter fails the test, and does so repeatedly throughout the article.

Everyone has the BRCA1 gene, and it actually helps prevent cancer! See, BRCA1 is involved in the process of DNA damage repair, which reduces the number of mutations in the genome. A properly functioning BRCA1 protein helps stop cancer before it starts.

What confused the reporter was that only some people have BRCA1 genes with mutations. When one or a few base pairs in the BRCA1 gene are altered, it can change the resulting protein and cause it to malfunction. These mutations are what confer a higher risk of breast cancer.

At least one scientist interviewed in the article gets it right:

Dr Alan Thornhill, scientific director of the London Bridge Fertility, Gynaecology and Genetics Centre, said: “While the technology and approach used in this case is fairly routine, it is the first time in the UK that a family has successfully eliminated a mutant breast cancer gene for their child.

It probably could have been more clearly said, but he does state that it’s the mutant copy of the gene that’s being eliminated, not the gene itself.

You may say that I’m playing semantics here, but this is crucially important stuff, as the article makes very clear. People are going to have to begin making serious decisions about risk factors affecting themselves and their children. It’s hard enough to convey this information when we get the facts right. Muddying the waters with bad reporting only makes the job tougher.

Update: Props to the BBC for changing the article. I don’t know if it was my contact form submission or someone else’s, but they’ve updated the article to make it more correct. That said, shouldn’t they acknowledge the change somewhere on the page? A footnoted erratum would go a long way towards improving transparency.

Published Again

The second paper to go out with my name on it has just been published online:

A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. doi:10.1101/gr.080259.108

That’s me, listed as “Christian A Miller”. Yeah, we’re working on getting that fixed…

As an added bonus, this one is open access!

Published!

The first paper to go out with my name on it has been officially published in this week’s Nature:

Comprehensive genomic characterization defines human glioblastoma genes and core pathways.

Sure, I’m one of about 200 people credited on the paper, but I was happy with my contribution to the group effort. Unfortunately, it’s not in an open-access journal, so I can’t link to anything but the abstract.

Our lab has another paper in submission that I’m an author on, and the plan is for me to clean up some data over the next few months to get a solid first-author paper out the door. That sounds great and all, but the hard work is really just beginning.

What is Cancer?

A large part of my research is focused on trying to better understand cancer. If you’re a little hazy on the concept, or just need a quick refresher, go read PalMD’s Cancer 101 and Cancer 201. It’s a nice overview of the disease, without all the medical jargon that turns most people off.

Update: Today’s Big Picture has some pretty stirring images of children with cancer

Published!

My first paper hit online publication today:

Comprehensive genomic characterization defines human glioblastoma genes and core pathways. The Cancer Genome Atlas Research Network. doi:10.1038/nature07385

|