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Prostate cancer is the second most deadly cancer for men in this country. Forty-one thousand men die from it each year. More than 300,000 American men will be diagnosed with it this year. Doctors have grappled with questions about the causes of prostate cancer for years. But now researchers think they are finding at least some answers.

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CHARLAYNE HUNTER-GAULT: Prostate cancer is the second most deadly cancer for men in this country. Lung cancer is the main one. Forty-one thousand men die from prostate cancer each year. More than 300,000 American men will be diagnosed with it this year. Doctors have grappled with questions about the causes of prostate cancer for years. But now researchers think they are finding at least some answers. A new paper in the journal "Science" reported on Friday that researchers have found the general location of the gene that may yield a clue about who gets the disease. To discuss that finding and the implications, we are joined by Dr. Francis Collins, the director of the National Center for Human Genome Research, which is mapping out all 80,000 human genes. The center was involved in the study. Doctor, thank you for joining us. First of all, tell us exactly what the prostate is, where it is, and what its function is in the body.

DR. FRANCIS COLLINS, Human Genome Project: That's one of those body parts that people don't think about too often. It's a walnut-sized gland that in men sits just underneath the bladder. If it enlarges, it can lead to problems, sort of obstructing the outflow from the bladder, but it is also a site where cancer can develop, and, in fact, a very common site where cancer develops with something like one in five men developing this disease sometime during their lifetime.

CHARLAYNE HUNTER-GAULT: Common and yet so deadly. Why so deadly?

DR. FRANCIS COLLINS: Well, in some men, it certainly can be. It spreads outside the prostate into the lymph nodes and into the bones. It can certainly be fatal, and all too often, that's the case, with 40,000 men a year dying form this disease. In others, it may be much more slow-growing and indolent, especially in elderly men, who may be diagnosed with the disease in their 80's or so and never actually require any intervention, just close monitoring. In fact, if you look at 95-year-old men at autopsy, virtually 100 percent of them have prostate cancer, but in the vast majority, it was not going to lead to any problems. It was very small and confined.

CHARLAYNE HUNTER-GAULT: All right. So tell us about this new research finding and the impact on it of it.

DR. FRANCIS COLLINS: Well, we had had suspicions based on the clustering of cases of prostate cancer in certain families that there might be a genetic link. But that had been a hypothesis up until now. And those of us working on this, which was a collaboration between the National Institutes of Health and Johns Hopkins University, and investigators in Sweden felt a little bit like Columbus setting sail out into the Atlantic not knowing if we were going to find land or fall off the end of the earth, trying to pursue a disease of this sort. It's difficult, because the disease is so common. It's sort of like mapping the genes for old age to try to map the genes for prostate cancer. But it was successful. And what it showed, that in a subset of families, where there seems to be a strong genetic link, with multiple-affected men, oftentimes having their disease come on in their 50's and 60's, there is a genome chromosome one, which seems to confer a substantial fraction of that risk. Now, those men, as I'm saying, often had their disease earlier than the average. This doesn't account for all families, and we haven't found the gene, itself, yet. We've just found its neighborhood.

CHARLAYNE HUNTER-GAULT: So, having found the neighborhood of the gene, you have found a gene--you now have to find the gene?

DR. FRANCIS COLLINS: Right.

CHARLAYNE HUNTER-GAULT: And the gene will help you determine who is going to get prostate cancer.

DR. FRANCIS COLLINS: Potentially, this will play a role in predicting who's at highest risk. Finding a gene of this sort has been likened by me and others to sort of finding a burned-out light bulb in a basement in a house somewhere in the United States. You can imagine, it's quite a detective story to go after that. And what we've done here is to sort of narrow it down to the correct county and the correct state. But we haven't found the house with the light bulb yet. And that will take another couple of years. Once--

CHARLAYNE HUNTER-GAULT: Just a couple of years?

DR. FRANCIS COLLINS: Well, it's a little hard to predict. Serendipity plays some role here, but I would guess it's somewhere in that neighborhood.

CHARLAYNE HUNTER-GAULT: And what is the relationship of this to--to heredity? I mean, is it that you have been able to determine that the gene passes from--this cluster you described passes from one generation to the next?

DR. FRANCIS COLLINS: That is the expectation, and we estimate that about one in five hundred men is walking around with a misspelled copy of this gene we call HPC-1, for hereditary prostate cancer, gene number 1. A man in that situation probably has about an 80 to 90 percent chance of developing prostate cancer by age 80, a rather high risk, indeed. That means there's probably about a quarter of a million men in the U.S. in that circumstance. Now, the hope is that finding that gene will allow us to develop a test that identifies those at highest risk in order for them to take advantage of close medical surveillance to pick up that prostate cancer while it's still small and curable, because that is the way that prostate cancer is cured, is by early detection.

CHARLAYNE HUNTER-GAULT: And it can be cured.

DR. FRANCIS COLLINS: It can be. Most men with prostate cancer do not die of their disease, especially if it's detected early. But we haven't been too sure who ought to have that kind of close surveillance. There's a test called PSA, Prostate Specific Antigen, which is pretty good at picking up a small tumor, but people have argued about who should you use it for, because sometimes it picks up a tumor that's not going to cause any problems, and then you've created a lot of anxiety.

CHARLAYNE HUNTER-GAULT: So how will you determine now who should take the test?

DR. FRANCIS COLLINS: The genetic test, of course, will not exist until the gene, itself, is found, which will be two or three years from now, I would estimate. Even when it is found, the test will have to be considered as far as its benefits and risks, and it certainly won't be appropriate initially for people who don't have a strong family history. One of the concerns is that somebody who takes the test and is found to have an altered gene may then be at risk for discrimination in health insurance or in employment, a serious circumstance which is being faced right now for breast cancer, where such a test has recently become available. We need to solve that problem urgently. This prostate cancer gene discovery creates a new cohort of 1/4 million men who are potential targets for such discrimination. That isn't fair, and we need to solve that, and we need to solve it legislatively at the federal level.

CHARLAYNE HUNTER-GAULT: But the flip side of that is that you can get these tests done earlier and perhaps save the lives of a lot more people. What percentage of the men you think will be tested will have this--might have this gene, altered gene?

DR. FRANCIS COLLINS: Again, it's going to be a small fraction. Maybe one in five hundred men has this. Many of those will have a strong family history, so if you focus on men who have that family history, you're more likely to find this alteration. The hope would be you have that diagnostic test available, a man can take it when he's in his 30's say, find out if he's at that high risk, and then begin his close surveillance and perhaps find that prostate cancer in his 40's or early 50's that otherwise would have killed him in his 60's.

CHARLAYNE HUNTER-GAULT: And then he has other options that he has to work on.

DR. FRANCIS COLLINS: Right, because early detection is possible if you know who to focus your attention on. This is preventive medicine sort of in a very individualized way. As opposed to telling every man to do the same thing, this is an opportunity to figure out who's at the highest risk and offer them the opportunity for a very specialized kind of follow-up.

CHARLAYNE HUNTER-GAULT: And briefly, does this in any way, whenever it gets full developed, point in the direction of a cure, or is that another set of research?

DR. FRANCIS COLLINS: It certainly does. The Human Genome Project exists to make things like this happen and make it possible to map genes that cause disease, then identify them, and then what comes after that fairly quickly is a diagnostic test. But the real reason to do all of this genetic research is to actually use the information about those genes to understand these terribly frustrating diseases and develop better treatments.

CHARLAYNE HUNTER-GAULT: Well, Doctor, we'll be seeing you again, I'm sure. Thank you for joining us.

DR. FRANCIS COLLINS: Thank you very much.

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