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First Whole Cancer Genome Sequenced

dooling writes "A paper detailing the sequencing of the first human cancer genome will be published in the 6 November 2008 issue of Nature. This is not only the first cancer genome published, it is the first female genome as well. You can read the paper's abstract, DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome, or the story in Science News. This issue of Nature also has articles on the sequencing of the first African and Asian genomes. The sequencing in all three articles was done using the Illumina Genome Analyzer, one of the massively parallel, next-generation genome sequencing platforms."

23 of 115 comments (clear)

  1. Re:Next gen sequencers are fucking awesome by Corpuscavernosa · · Score: 4, Interesting

    Just wait until nanopore sequencing really takes off. Now that shit is awesome.

    --
    We figured out a long time ago that it's easier to elect seven judges than to elect 132 legislators.
  2. That's nice but... by the_humeister · · Score: 4, Insightful

    There's always a "but." They sequenced an FAB classification M1 AML. That's nice, but these things tend to have a heterogenous genetic makeup. It'd be nice if they sequenced more of those things and compared them as well.

    1. Re:That's nice but... by samgeribo · · Score: 4, Interesting
      I'm also concerned that these might be mutations in the hematopoietic stem cell that don't "drive" the disease. The lengthy points at the end debunking this possibility aren't convincing to me. Here are the 1st two (FTA):

      1) "genetic instability does not seem to be a general feature of AML genomes."

      Are they on crack? Perhaps I don't fully understand the context of this statement; genetic instability and evolution are seen in most cases of AML.

      2) "Alternatively, all may have occurred simultaneously in the same leukaemia-initiating cell, but only a subset of the mutations (or an as-yet undetected mutation) is truly important for pathogenesis (that is, disease 'drivers' versus passengers). Although we suggest that the latter hypothesis is very unlikely on the basis of our current understanding of tumour progression"

      Simultaneously occurring? Again, this flies in the face of common knowledge. The theory is the hematopoietic stem cell is extremely long lived and only divides once a year and so has plenty of time to accumulate genetic mutations. This explains both the average relapse time of one year and also the genetic homogeneity of the leukemic clone. Thus many of their new found eight mutations may be accidental and not disease causing.

      Does anyone have any new light to shed on this? I am not a doctor and would benefit from some guidance on this issue.

    2. Re:That's nice but... by Scubaraf · · Score: 2, Informative

      Mod this up - this is the *KEY* argument that needs to be made in light of this work. First - 8 of the unexpected mutations could not be found in leukemia cells from 187 other patients with AML. http://news.bbc.co.uk/2/hi/health/7706487.stm

      This strongly suggests that these are "passenger" mutations that were acquired during the life of the hematopoietic stem cell that later underwent clonal expansion.

      Many of the patients remaining normal stem cells probably carry a few insignificant mutations here or there, but each of these is represent at such low frequency, that they cannot be detected in the absence of clonal expansion.

      Second - there is no external or functional validation. Take these genes, mutate them, and put them into in vitro or mouse models of leukemia to see if they have any effect. Heck, just start by proving that these mutations occur at a higher frequency in coding regions than in non-coding regions of the genome. Or even show that all of these genes are actually expressed in leukemic cells.

      Finally - mutations are not the only way to disrupt gene expression. Genes can be methylated, amplified, deleted, and post-transcriptionally down regulated (by miRNA for example). The genetic disaster that caused AML in this patients may have had more to do with these types of events (as is the case with a related, pre-leukemic conditon known as MDS).

      So this is fascinating use of amazing technology, but also a first pass at analyzing a very complex data set. Many more cancer genomes will come in short order and we'll get a better sense of what this means.

  3. Re:Population and cancer by CrimsonAvenger · · Score: 4, Insightful

    I can't help but think that cancer is acting as a brake on the population explosion.

    Umm, no.

    Cancer, in general, happens to people well past the age of reproduction. Which means it has little, if any, effect on population growth rates.

    If there are diseases you'd like to keep around to prevent overpopulation, may I suggest lobbying to return Smallpox to the wild instead? Or just become a pro-AIDS activist, since the latter seems to be doing a good job of cutting into African population growth.

    Seriously, some of you people scare me....

    --

    "I do not agree with what you say, but I will defend to the death your right to say it"
  4. Re:Population and cancer by Corpuscavernosa · · Score: 3, Insightful
    It seems to me that any number of debilitating and lethal diseases can be seen this way and that population control should be proactive. If we can cure cancer, it would seem that population control through education would be a far better way to ensure population control without the horrible pain and suffering that the afflicted and their loved ones endure.

    I realize that birth control education/legislation/etc. brings up an entirely new conversation (one I'm not trying to start here) but I'd pretty much support anything that would have kept friends and family from dying a slow, painful death.

    --
    We figured out a long time ago that it's easier to elect seven judges than to elect 132 legislators.
  5. Re:Population and cancer by Anonymous+Crowhead · · Score: 2, Informative

    Worldwide, cancer barely makes in to the to 10 causes of death. And the one type of cancer that does make it is caused primarily by smoking.

  6. First Female Genome Sequenced by sexconker · · Score: 2, Interesting

    Really?
    Is that significant?
    If so, why? If not, why hadn't it been done before? (Other than the whole "zomg this job is taking forever" thing)

  7. Re:Population and cancer by CriX · · Score: 3, Insightful

    Seriously?

    People that are no longer able to reproduce still consume resources and are definitely still considered part of the population. The point is that if you curb dieoff you are contributing to population growth.

    --
    Moderation: +1 pwnage
  8. Re:Population and cancer by Rakishi · · Score: 2, Insightful

    The exact opposite holds true and I really wish people would first look at the data before spouting out something. Developed nations with long life expectancies have a lower population growth rate than other nations. In fact the world's population growth rate is going down as more nations become developed. It's expected that the world's population will reach an equilibrium of 12 billion or so in under 40 years.

  9. Re:Population and cancer by MadAhab · · Score: 5, Insightful

    But at most linearly, and not much - because of increase survival times, as opposed to the geometric effect of birth rates.

    On that note, countries with long lives tend to need to support a fair amount of old people, which makes kids expensive, and keeps birth rates down.

    Countries where birth rates are high and where life spans are short have a strong correlation. And they keep growing.

    Compare, say, any European country or Japan or coastal US vs any sub-Saharan African country.

    And as someone with a spouse with cancer, I have to say go fuck yourself.

    --
    Expanding a vast wasteland since 1996.
  10. Two genomes from the same person by jfengel · · Score: 5, Interesting

    The Science News article says that they sequenced both a cancer cell and a non-cancer cell from this woman. So we can specifically say "these are the bases that are different" and from there (with luck) to "this is the mutation that happened".

    That should prove quite illuminating.

  11. This is perfect! by Majik+Sheff · · Score: 3, Funny

    All the lab has to do now is patent the gene sequence and then sue mother nature for everything she's worth every time someone expresses this gene!

    There's your above the fold headline: Lawyers cure cancer!

    --
    Women are like electronics: you don't know how damaged they are until you try to turn them on.
  12. Re:Population and cancer by MikShapi · · Score: 2, Interesting

    Have a read through the mprize and SENS pages, projects geared at tackling not only cancer but ageing in general.

    Aubrey De Grey addressed this question a while back - what if people stopped dying from aging altogether? Will population explode? Will we immediately cause a bigger problem than we've solved?

    Following his reasoning (plus real-world numbers) the answer is no. Personally, I agree with him.

    Even in the most extreme of cases, were everyone to just stop dying of age-related causes altogether (including cancer, heart-disease etc) unless a truck hits them, population would not explode overnight. It would take a long time (read: hundreds of years) to become anywhere as apocalyptic as some would have you believe, far more than enough time for us to adapt and apply solutions to (humans have proven an uncanny ability to adapt social structures to evolving environments over the past centuries, having brains is a dang good thing at times) as well as be in turn mitigated by the very same fact that caused it, much like people going from making 15 kids to having three after realizing that all three (rather than one in five) will survive to adulthood if only they washed their hands.
    That's to say our current population growth estimates take the existing rate as a given (200 years ago, 15 kids per family per generation was a given), but this very change is likely to change, and put predictions using these numbers far off the mark.

    If people will have extended (reproduction-capable) lifetimes, the rate at which they procreate may quite possibly go down as less pressure exists to adhere to the ticking biological clock (aka "we'll have kids later"), much like many people are already preferring to do so towards their 30's rather when they're 16.

    And we'd be replacing a BIG problem (causing a LOT of suffering) with a smaller one that can be tackled by education, regulation and generally more humane means than frality and losing one's mental capacity, life or loved ones.

    Cancer is NOT a legitimate over-population solution. Neither are genocide, war, smallpox, AIDS or even old age. Much like amputation is not a solution for a muscle cramp.

    The idea of promoting it as such is ludicrous.

    They should all be cured.
    Overpopulation will be addressed in due time, using far better means that we ALREADY HAVE at our disposal.

    Last, I heartily encourage you to read this for some perspective on the matter.

    --
    -
  13. Re:Population and cancer by MrMista_B · · Score: 5, Funny

    Okay, so... are you volunteering yourself as the first to be killed in the name of population control?

    How about a random lottery? Every couple years, we chose one in a hundred thousand people, and kill them.

    Or what about shutting down hospitals? If we get rid of all the doctors, I'm sure the reduction in population growth will make you very happy.

    While we're at it, instead of incarcerating murderers, how about we reward them? After all, they're helping curb population growth.

    Or you know what? Fuck you.

  14. Re:Population and cancer by syousef · · Score: 2

    If there are diseases you'd like to keep around to prevent overpopulation, may I suggest lobbying to return Smallpox to the wild instead?

    Wooooaahhhh there buddy. I didn't say I wanted to keep any disease around. Just that we should have a plan that means our population (and consumption) are sustainable so we don't have wide spread famine.

    Cancer, in general, happens to people well past the age of reproduction.

    What are you talking about? There are whole classes of cancers commonly referred to as "childhood cancer".

    Looking at the stats here, nearly 10% of cancers occur under the age of 45. Let's call that the reproductive cutoff for women....now men can have children into their 60s, and about 45% roughly occur by age 65
    http://seer.cancer.gov/csr/1975_2005/results_merged/topic_age_dist.pdf

    Now the earlier the cancer occurs the more likely it is to have an impact on reproduction. So yes age has a bearing, but your view of cancer as a disease for old people is just wrong.

    Seriously, some of you people scare me....

    Perhaps you should READ what the other person wrote before letting hysteria take over? To take what I wrote and suggest that I want cancer to hang around is just paranoid. (I said I hated losing people dear to me). It isn't wrong to want to have a plan to prevent the population from becoming unsustainable. My interest isn't in restricting freedoms, handing control to the government, or having people die at my whim. I'd like to see LESS suffering. Painting me as a monster is INSULTING.

    --
    These posts express my own personal views, not those of my employer
  15. Cancer Gnome by Anonymous Coward · · Score: 2, Funny

    I'm pretty sleepy but at first glance I thought the first whole Cancer Gnome sounded pretty scary!

  16. Re:Population and cancer by m0rph3us0 · · Score: 2, Insightful

    I'm interested in your market with exponential growth. I'd like to invest as it seems to give much higher returns than the NYSE, NASDAQ, FTSE, DAX, etc.

  17. Re:Don't worry by Geoffrey.landis · · Score: 2, Informative

    Serously, despite wide and inexpensive availability of contraception, individual humans have very little control or foresight when it comes to controlling the number of offspring they have.

    To the contrary. As people get wealthier, birth rate drops significantly. This is known as the "demographic transition". Birth rate also decreases directly with education level, and with access to birth control techniques. (That latter would be, you'd think, duh no surprise, but nevertheless it was a surprise to sociologists).

    So if you want to control population, make everybody rich, educated, and have access to birth control.

    --
    http://www.geoffreylandis.com
  18. Re:Population and cancer by lysergic.acid · · Score: 4, Insightful

    or just raise education levels. Japan has negative population growth, and it's not due to government intervention.

  19. Re:Next gen sequencers are fucking awesome by philspear · · Score: 3, Funny

    Remember northern blots?

    Honestly? No, I've BLOTTED it out.

    It's so rare you get to make a molecular-biology related pun, you have to take every opportunity you get, even if they are that bad. I'm sorry.

  20. Re:Next gen sequencers are fucking awesome by J.Y.Kelly · · Score: 3, Funny

    Remember northern blots?

    Honestly? No, I've BLOTTED it out.

    It's so rare you get to make a molecular-biology related pun, you have to take every opportunity you get, even if they are that bad. I'm sorry.

    It's not that rare - heck the Northen blot itself is a pun:

    Southern Blot - developed by Ed Southern

    Northern Blot - see what they did there...

    Western Blot - yes, yes - very funny. Now get back to work.

  21. Re:Population and cancer by lysergic.acid · · Score: 2, Insightful

    as i understand it, they didn't want to invade the U.S., they didn't even really want to go to war with the U.S.

    what they wanted was to be like the U.S., and all the other major western powers, and become an industrialized society. but Japan has no domestic oil supply, and since all the European powers were colonizing other lands and spreading their empires at the time, the Japanese wanted to do the same with Southeast Asia.

    but the Western nations, particularly the U.S., didn't want Japan to become too powerful, so they prohibited Japan from invading Southeast Asia and basically cut off their oil supply. and since Oil is the lifeblood of any industrial society, Japan broke from the league of nations and later waged war with the U.S. it was really a matter of survival.

    i mean, what do you think the U.S. would do if China suddenly cut off all of our foreign oil supplies in the Middle East? we actually have a domestic oil reserve, but we'd still likely declare go to war with China.