Aiding Cancer Prevention and Treatment by Renaming the BRCA1, BRCA2, and BRCA3 Mutations - Colin Pritchard

November 13, 2019

Colin Pritchard from the University of Washington joins Charles Ryan at the 26th Annual Prostate Cancer Foundation Scientific Retreat (PCF 2019) to speak about his recent editorial that was published in Nature that advocates for a renaming of the genetic syndrome that we commonly call BRCA2 mutation or the "breast cancer gene". They're named the breast cancer genes but it is limiting because prostate cancer, as well as other cancers that are not specific to one gender, like pancreatic cancer, are also associated with these genes.  The idea is to rename these genes to something more inclusive of prostate cancer and pancreatic cancer in addition to breast cancer.   


Colin C Pritchard, M.D., Ph.D. is the director of the Genetics and Solid Tumors Laboratory at University Washington Medical Center, as well as a University Washington associate professor of Laboratory Medicine.

Charles J. Ryan, MD, the President and Chief Executive Officer of The Prostate Cancer Foundation (PCF), the world’s leading philanthropic organization dedicated to funding life-saving prostate cancer research. Charles J. Ryan is an internationally recognized genitourinary (GU) oncologist with expertise in the biology and treatment of advanced prostate cancer. Dr. Ryan joined the PCF from the University of Minnesota, Minneapolis, where he served as Director of the Hematology, Oncology, and Transplantation Division in the Department of Medicine. He also served as Associate Director for Clinical Research in the Masonic Cancer Center and held the B.J. Kennedy Chair in Clinical Medical Oncology.

Read the Full Video Transcript

Charles Ryan: Hello, I'm with Colin Pritchard from the University of Washington where he is the Director of the Genetics and Solid Tumor Laboratory and emerging as one of the really top voices in the area of genetics in prostate cancer. And you recently wrote an editorial that was published in Nature that advocates for a renaming of the genetic syndrome that we commonly call BRCA2 mutation. Tell us about what you wrote.

Colin Pritchard: Yeah. So the idea is that we have these breast cancer genes. They're named the breast cancer genes, and it's confusing because they cause not just breast and ovarian cancer when you have an inherited pathogenic variant, but also prostate cancer as well as other cancers that are not specific to one gender, like pancreatic cancer. So the idea is can we rename the syndrome that's associated with these as something that is more inclusive and specifically maybe more inclusive of prostate cancer so there's greater awareness?

And so the argument is we went through the same process with what we used to call hereditary nonpolyposis colorectal cancer syndrome, which we now call Lynch syndrome. About 10, 15 years ago, we went through this whole thing as a field where we realize, hey, gosh, those mutations in those mismatch repair genes when they're inherited cause not just colon cancer, for which the original syndrome was named for, but also endometrial cancer in women, among other cancers, ovarian cancer as well. Actually, originally it was called Lynch way back and they went back to Lynch syndrome, so the argument is very similar here. We have someone who discovered the BRCA1 locus, Mary-Claire King, and also described the first families for which for the BRCA1 segregated. So why not take the lead from Lynch syndrome and rename this King syndrome?

Charles Ryan: Would this be just BRCA2 or would this be any DNA repair alteration?

Colin Pritchard: It's a great question. I think initially for the same genes for which we currently call hereditary breast and ovarian cancer syndrome, that's what the current name is, and that's typically limited to BRCA1 and BRCA2. Some people would include PALB2, which you'll even hear people call that gene BRCA3.

Charles Ryan: Right, heard that this morning.

Colin Pritchard: Right. Yeah. So I would argue probably we should include PALB2. But I would say the same things that were, same genes we're already including with, for what we currently call hereditary breast and ovarian cancer syndrome, let's think about renaming that to something else. I've suggested King's syndrome. It could be something else, but I think most people I've talked to agree that we do have a communication problem here.

And what really inspired me for this is I was talking to my parents who are, these are smart college-educated people. They're not scientists or physicians, but they know what I do for a living and I do genetic testing for this. And even recently I had this conversation with them, and they said, "Wait a minute. You mean men can have the BRCA genes? I thought those were the breast cancer genes. Only women have those." So they didn't even understand the concept that men have these genes in their bodies, much less that these genes are an important cause of prostate cancer. So this light bulb went off, gosh, we have a problem with communication. We have a problem with branding.

Charles Ryan: Yeah.

Colin Pritchard: And so that's the gist of it-

Charles Ryan: Yeah. No. I've had that conversation with many, many patients, and I always when I talk about BRCA2 now, I just say, "Well, you know about the breast cancer gene?," and that's how I get into the conversation. So I applaud that effort and I think that Mary-Claire King would be the, obviously, the natural choice for the eponym around that syndrome. What does it take to name something? How do we do this?

Colin Pritchard: These interviews. It's funny, I thought the same thing. I said, "Has anyone ever done this before?," I don't know, but I think just starting a conversation, thinking about it as a field. I think-

Charles Ryan: If we just start to write about it and we put it in UpToDate® and the textbooks, and we talk about it on interviews like this-

Colin Pritchard: Sure.

Charles Ryan: ... then it'll just happen.

Colin Pritchard: Sure. I think if people like it, if it catches on, if it has currency, if it's effective in communications in the clinic, then people... It'll, I think, naturally catch on. And if it doesn't, it won't.

Charles Ryan: Yeah.

Colin Pritchard: But the point of my editorial is just to sort of start a conversation around this idea and the idea that we really need to think about this as an important issue if we're going to communicate well.

Charles Ryan: Even if in five years we don't use King syndrome as the name, you have started a conversation that applies to people like you and I, and to your parents, who are people asking the question, "Do we even have these genes in our body?" I think that's really, really important. So great job, look forward to future editorials, and I'll try to use the term as much as I can.

Colin Pritchard: All right.

Charles Ryan: All right.