How cancer genomics is transforming diagnosis and treatment
- Genetic cancer culprits. Some of these genetic alterations interrupt the normal functioning of tumour-suppressor genes,...
- Treating the mutation. One of the biggest impacts that cancer genomics is having is on treatment choices. ... One early...
- Future targets. The Cancer Genome Atlas programme, set up by the...
Why is genomics research critical to progress against cancer?
Why Genomics Research Is Critical to Progress against Cancer The study of cancer genomes has revealed abnormalities in genes that drive the development and growth of many types of cancer. This knowledge has improved our understanding of the biology of cancer and led to new methods of diagnosing and treating the disease.
What can we learn from comprehensive analysis of cancer genome?
Comprehensive analysis of cancer genomes has revealed a great deal of diversity in the genetic abnormalities found within cancers of a single type. Moreover, recurrent genetic alterations within these cancers are often involved in only a small percentage of cases.
What is the cancer genomics research laboratory?
The DCEG Cancer Genomics Research Laboratory supports epidemiologic research by processing, characterizing, and analyzing tissue collections and other samples using genome-wide association studies, DNA sequencing, and candidate gene studies. The large data sharing project will inform understanding of cancer risk.
How is genome sequencing transforming the way we understand cancer?
Now, technology is once again transforming our understanding of cancer’s origins and complexity. Instead of broad categorizations based on the location of tumours, genome sequencing is providing detailed characterizations of the combination of genetic mutations that trigger or aid cancer development in an individual.
How has genomics been used to diagnose and treat diseases?
Fast, large-scale, low-cost DNA sequencing has propelled genomics into mainstream medicine, driving a revolutionary shift toward precision medicine. Early diagnosis of a disease can significantly increase the chances of successful treatment, and genomics can detect a disease long before symptoms present themselves.
How has genome sequencing improved the treatment of cancer?
Today, we can sequence the DNA in cancer cells and compare that to the sequence found by the Human Genome Project. This allows scientists to work out which genes are mutated – improving our understanding of inherited diseases and even helping develop genetically targeted medicines.
How is genomics being used in the study of cancer?
NCI investigators analyze the DNA and RNA of cancer cells using advanced technologies such as next-generation DNA sequencing to map the landscape of the cancer genome and discover new changes linked to disease. NCI studies commonly use multiple genomic techniques.
How might the sequencing of cancer cell genomic DNA influence decisions on treatment?
DNA sequencing is helping us unravel the mystery of how our genes control cancer, so that we can develop better tests and treatments. If the particular cancer‑causing mutations in a patient's DNA are known, it means that treatment can be personalised to target those mutations.
How does DNA sequencing impact our ability to study the causes of and potentially diagnose cancer?
UT Southwestern Medical Center cancer researchers have demonstrated that whole-genome sequencing can be used to identify patients' risk for hereditary cancer, which can potentially lead to improvements in cancer prevention, diagnosis, and care.
What has DNA sequencing told us about cancer?
DNA sequencing has taught us much about the structure of cancer genomes and enabled the discovery of novel genes that drive and maintain tumorigenesis.
Can genome sequencing cure cancer?
Summary: Whole genome sequencing of tumour cells could help predict the prognosis of a patient's cancer and offer clues to identify the most effective treatment, suggests an international study.
What is cancer genetics & genomics?
The Cancer Genetics and Genomics (CGG) Program seeks to better understand the cancer genome and leverage novel insights into cancer genomics to improve outcomes for cancer patients.
How does genomics work?
Genomics is the study of whole genomes of organisms, and incorporates elements from genetics. Genomics uses a combination of recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyse the structure and function of genomes.
What is cancer genome?
Cancer is a group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations that occur in our genome as the cells divide over and over again.
How have advances in medical technologies changed our understanding of cancer genetics?
Now, technology is once again transforming our understanding of cancer's origins and complexity. Instead of broad categorizations based on the location of tumours, genome sequencing is providing detailed characterizations of the combination of genetic mutations that trigger or aid cancer development in an individual.
What is genome sequencing and how is it done?
Listen to pronunciation. (jeh-NOH-mik SEE-kwen-sing) A laboratory method that is used to determine the entire genetic makeup of a specific organism or cell type. This method can be used to find changes in areas of the genome.
Introduction
The first publication of cancer genome sequencing was in 2006, whereby more than 13,000 genes involved in breast and colorectal tumours were studied. Shortly after, in 2008, the first whole cancer genome was sequenced, which was derived from a bone marrow cancer, also called cytogenetically normal acute myeloid leukaemia (CN-AML).
What is Cancer Genomics?
One in two people will develop cancer at some point during their lifetime.
A Brief History of NGS
Although it is clear that genomics has the potential to significantly enhance our knowledge about the molecular drivers behind tumour growth, and subsequently improve our treatment options, challenges remain in pushing genomics to the core of cancer care.
How can Cancer Genomics Improve Diagnosis?
Today, cancer diagnosis remains largely focused on national screening programmes, which mainly consist of medical imaging and physical examinations. Once a tumour is detected, a biopsy is taken to help inform the diagnosis.
How can Cancer Genomics Enhance Treatment Choices?
Since the advent of genomic sequencing, targeted therapies that are specific to the genetic driver s of cancer have been developed. Precision oncology is the provision of targeted treatment for an individual’s cancer, based on its genetic and molecular profile.
Cancer Genomics Technologies
Genomic technologies have emerged as incredibly valuable tools in cancer research during recent years. In particular, NGS platforms have provided oncologists with a growing body of knowledge that has contributed to more effective drug design, better patient treatment options and more accurate disease prognoses.
DNA Sequencing: How to Choose the Right Technology
For more information about the enabling technologies that are being utilised by researchers to make breakthroughs in precision oncology, check out the Cancer Genomics report. It includes perspectives from experts in the field and various relevant case studies. Download it for free here:
What is cancer genetics?
Cancer is a group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations that occur in our genome as the cells divide over and over again.
Why is it so hard to evaluate cancer?
Unfortunately, some cancers are harder to evaluate because looking at their genomes would require difficult and painful biopsies or operations where tiny parts of the cancer tissue are removed for study. This also makes it harder for clinicians to monitor how treatment is working for some cancers because repeated biopsies are just not possible. Recent breakthroughs now allow the detection of circulating tumor DNA (or ctDNA) in the blood of patients instead of directly sampling the tumor. As cancer cells grow very fast and die, they release some of their DNA into the bloodstream. We now have tests that are sensitive enough to detect and sequence these pieces of ctDNA in the bloodstream separately from the normal DNA of the patient - this is called a "liquid biopsy."
Why are blood tests harder to detect?
Unfortunately, some cancers are harder to evaluate because looking at their genomes would require difficult and painful biopsies or operations where tiny parts of the cancer tissue are removed for study .
What did Lukas do in the laboratory?
This led him to specialize in treating patients with leukemia, and studying the disease in the laboratory. While his university was helping pioneer cancer genome sequencing, Lukas suffered a relapse of his ALL with severe symptoms. So the laboratory, including Lukas's mentor, asked if they could study him.
How many clinical trials are there for Lukas?
There are over 10,000 clinical trials for new therapies in cancer that are recruiting right now in the United States.
What gene did Lukas's lab find?
In his cancer's genome, they found mutations in a gene called FLT3.
What is n of 1 clinical trial?
In addition, cases like Lukas' have led to the resurgence of " n-of-1 " clinical trials, where doctors can gather enough information from just one patient to try a new therapy. Such trials are aided by patients who share their genomic data with researchers or even openly with other patients.
Why is genomics important?
Why Genomics Research Is Critical to Progress against Cancer. The study of cancer genomes has revealed abnormalities in genes that drive the development and growth of many types of cancer. This knowledge has improved our understanding of the biology of cancer and led to new methods of diagnosing and treating the disease.
What are the challenges of genomics?
Another challenge is acquiring high-quality biological samples needed for genomic studies, particularly for tumor types that are uncommon or rare, or those not treated primarily by surgery. Developing cell lines and animal models that capture the diversity of human cancer is also an unmet need.
Why is CGCI important?
This large number is important for discovering DNA, RNA, and protein abnormalities that are responsible for cancers in small numbers of patients. The Cancer Genome Characterization Initiative (CGCI) also studies cancer genomes, including cancers associated with HIV infection.
What is the purpose of NCI?
NCI investigators analyze the DNA and RNA of cancer cells using advanced technologies such as next-generation DNA sequencing to map the landscape of the cancer genome and discover new changes linked to disease. NCI studies commonly use multiple genomic techniques. Integrating the results from several analyses helps scientists gain a better understanding of cancer, much like combining magenta, cyan, and yellow inks can generate vibrant color prints.
What is HCMI in cancer?
The Human Cancer Models Initiative (HCMI) is generating new cancer models using cutting-edge technologies. These models will provide researchers with more accurate representations of a wide variety of cancers, and genomic characterization of the models may reveal links between genomic traits and how cells behave.
What cancers are caused by mutations in the HER2 gene?
For instance, mutations in the HER2 gene (distinct from amplifications of this gene, for which therapies have been developed for breast, esophageal, and gastric cancers) have been found in a number of cancers, including breast, bladder, pancreatic, and ovarian.
What type of cancer has molecular subtypes?
Researchers have also shown that a given type of cancer, such as breast, lung, and stomach, may have several molecular subtypes. For some types of cancer, the existence of certain subtypes had not been known until researchers began to profile the genomes of tumor cells.
Why is genomic data important?
Genomic data can also be used to assess a person’s risk of developing cancer. The ICR’s Professor Clare Turnbull gave a talk discussing her team’s effort to identify cancer susceptibility genes and understand how these can cause disease.
What is the festival of genomics?
London’s annual Festival of Genomics conference brings together a diverse crowd of attendees with a common mission: to deliver the benefits of genomics to people faster. Genomics is an extremely powerful discipline that is fundamental to understanding and treating diseases like cancer – and it is rapidly evolving.
What is the role of healthcare teams in the ICR?
Healthcare teams will need to involve patients in dialogues around consent, diagnosis, prognosis and treatment. At the ICR, scientists and clinicians are already working together to gather genomic data and accelerate vital translational research – which is key to bring genomic discoveries into the clinic.
Who is the lead researcher of the 90s study?
At the ICR, Professor Ros Eeles is also leading the 90S study – the first study in the UK to assess whether whole-genome sequencing can be used to screen for a range of genes linked to disease or response to medicines in a primary care setting.
Does DNA code increase risk of testicular cancer?
A study led by Professor Turnbull in 2018, for instance, showed that a mixed set of common, single-letter changes to the DNA code – each of which only slightly increase a man’s risk of testicular cancer – together play the biggest role in causing the disease.
Is genomics used in the clinic?
It is now crucial that clinicians and the public start getting ready for the routine use of genomics in the clinic, which comes with a number of psychological and communication challenges – as well issues around consent, since people want to know what their genomic data is being used for.
