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Genetic secrets of nearly 2,700 types of cancer have been revealed by an extensive international project

The findings, published in a collection of research papers and published in the journal Nature, interpret the complete DNA sequences, or cancer genome, of 2,658 cancer samples. These findings are expected to increase our understanding of the crucial mutations that underlie the development of cancer diseases and offer potential targets for treatments such as chemotherapy. About 700 scientists around the world participated in the study, as part of an international project called "pan-cancer analysis of whole genes"

Cancer cell genome. Illustration: shutterstock
Cancer cell genome. Illustration: shutterstock

By Melissa Sothei, Chair of the Department of Precision Medicine, Monash University (Australia)

Scientists have revealed the detailed genetic makeup of thousands of cancer tumor samples, yielding new insights into the genes that drive the many and varied forms of the disease.

The findings, published in a collection of research papers and published in the journal Nature, interpret the complete DNA sequences, or cancer genome, of 2,658 cancer samples. These findings are expected to increase our understanding of the crucial mutations that underlie the development of cancer diseases and offer potential targets for treatments such as chemotherapy. About 700 scientists around the world participated in the study, as part of an international project called "pan-cancer analysis of whole genes"

The hallmark of a cancer cell is its disorganized growth. The mechanism that allows these cells to escape normal cellular growth regulation involves the formation of mutations to the cancer cell's DNA. The collection of mutations found in a certain cancer genome is therefore known as the "mutation signature" of the cancer.

Advances in our ability to find an accurate and complete sequence of a complete genome of a cancer cell and to analyze the sequence data have allowed a more in-depth analysis of these mutational signatures. Each step forward revealed further diversity in the mutational processes underlying cancer development and progression.

variants of mutations

Seven years have passed since the previous milestone in this field was recorded. Back in 2013, researchers reported on genetic sequencing of 7,042 crabs from thirty different types, and identified twenty different mutational signatures. The current report includes fewer cancers, but this latest advance isn't really about the numbers.
The real step forward is in our understanding of the diversity of DNA mutations and mutational signatures in the cancer genome. This is mainly due to improved methods for analyzing DNA sequence data, compared to the situation in 2013.
As a result, important changes in the DNA sequence that could not be detected in the previous project have now been described. Each of them contributes new and important details about each cancer genome.
Until recently, cancer mutation analyzes focused on small changes in the "coding regions" of the DNA - about XNUMX percent of the DNA responsible for protein production. The new analyzes published this week identified non-coding mutations - some large structural mutations and even whole chromosomes.

These new analytical capabilities made it possible to identify 97 mutational signatures, five times more than previously known. The improved accuracy increases our understanding of the diversity of cancer genomes. It also provides important new information about the order in which these mutations accumulate during cancer development.

However, there is good evidence to suggest that more work is still needed to characterize the full spectrum of DNA mutations in cancer. All cancers are expected to have between one and five variants of the mutation. Despite the wide range of analytical approaches described in these new studies, the researchers still failed to identify variant mutations in 5% of the cancers in their study.

The study also showed that similar mutational signatures exist in cancers arising in different tissues. This has implications for cancer treatment. For example, a drug used successfully to treat breast cancer may be equally effective in treating pancreatic cancer if the two cancers share the same mutational signature.
This information will greatly advance our ability to identify cancers from the same or a similar source using their mutational signature. This has huge implications for the diversity of drugs available for gene-targeting cancer therapy.
But perhaps the most important or significant thing is that the research also allows us to expand our strategies to prevent cancer before it starts.

For an article in The Conversation

For the collection of articles on the NATURE website

6 תגובות

  1. The articles in NATURE are not pseudoscientific. I downloaded them all. If it were possible to embed a reference as a file I would do so. Each article is signed by about ten researchers.

  2. The response to the Ahad Ha'am commenter:

    You are just misleading. The cited article is from 2001, two years before the end of the human genome project where the complete human sequence was revealed for the first time, and at least 12-14 years before there started to be huge amounts of information from sequencing about mutations, so the opinion of the author of the article turned out to be incorrect over the years.
    As someone who deals quite a bit with molecular biology, I assure you that mutations in certain genes greatly affect the rate of cell division and differentiation.

    The link you provided is pseudo-scientific, I read the entire first article and there are scattered a lot of semi-scientific facts that are not at all in their correct context, and no proof is provided for the things said there.

    I'm a big believer in mind-body, there are even some medical studies that show a 50 percent (!) improvement in the survival of oncology patients when they received guided imagery therapy in addition to drug therapy, but what you're doing here is simply deception, philosophy and spirituality for 10 cents.

    I will give you one example, it is written in the link you attached that when a cell has no food it will enter a "dormant" state where it will be quiet, so I can tell you that there are quite a few situations in which if a cell in a tissue feels that it lacks food it will not enter any quiet state but Genes related to hypoxia will be copied and translated so that more "plumbing" of blood will feed him.

  3. The question is:
    Would people want to know 10 years before they have a disease. Let's say so.
    Will there be an effective treatment at the stage when coding errors are discovered in DNA. I guess it opens the door to new drugs.
    The research looks huge.

  4. Cancer genetic research is worthless - a waste of time + billions of dollars a year.
    Below is an article - which is part of a series of articles - that explains why:
    Quote: "For 50 years it was thought that cancer was mainly caused by genetic mutations. This line of thinking has gotten us almost nowhere....we have gotten too close to cancer - right down to the genetic makeup of cancer, which is worthless. We can't find any head or tail to the origin of the cancer and therefore no progress towards treatment. Over 100 oncogenes and over 15 tumor suppressor genes have been identified, but we do not know what this means as a whole...the mutation rate needed to develop cancer is much higher than the known mutation rate in human cells (Loeb et al 2001). Normal cells do not mutate in any way close to what is required to produce cancer…

    https://healthinhebrew.co.il/2018/03/06/cancers-seed-and-soil-cancer-11/

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