Areas of Focus | Genomics - National Foundation for Cancer Research

Genomics

What is Genomics?

Genomics – in general – is the study of a complete set of genetic material (DNA), and when it comes to cancer research, studying DNA is crucial. Cancer develops when DNA becomes damaged or changed. Some cancer-causing genetic changes are inherited, while some come from exposure to chemicals (such as those in cigarette smoke), radiation, certain microbes or other environmental factors. Studying cancer genomics involves exploring the differences between cancer cells and normal cells.
There’s a paradigm shift taking place: We’re moving from an organ-focused (type of cancer) approach to a gene-focused approach. This shift is already having a profound effect on the way cancer is treated and allows doctors to provide more individualized options for patients (also known as precision medicine or precision oncology).

Support Breakthroughs in Genomics Cancer Research and Beyond.

Researchers Working On Genomics

Paul Schimmel, Ph.D.
Scripps Research
Wei Zhang, Ph.D.
Wake Forest Baptist Medical Center
Daniel A. Haber, M.D., Ph.D.
Massachusetts General Hospital Cancer Center
Paul Fisher, M.Ph., Ph.D.
Virginia Commonwealth University
Daniel Von Hoff, M.D
Translational Genomics Research Institute (TGen)
James P. Basilion, Ph.D.
Case Western Reserve University
Webster K. Cavenee, Ph. D.
Ludwig Institute for Cancer Research
Danny R. Welch, Ph.D.
University of Kansas Cancer Center
Ronald A. DePinho, M.D.
University of Texas MD Anderson Cancer Center
Ronald A. DePinho, M.D. University of Texas MD Anderson Cancer Center
Cesare Spadoni, Ph.D.
University of London
Alice T. Shaw, M.D., Ph.D.
Massachusetts General Hospital
Laurence Hurley, Ph.D.
University of Arizona

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Rectal Cancers Vanished After Immunotherapy Treatment

Immunotherapy has changed the landscape of cancer medicine. The good news about its recent success in treating rectal cancer marked a new milestone in curing cancers. Rectal Cancers Are Gone After the Treatment A research paper published in the New England Journal of Medicine on June 23, 2022, reported that 12 patients with rectal cancer treated with the immunotherapy drug dostarlimab have all achieved complete remission – the cancers vanished or are undetectable after the treatment.  Doctors followed up with these 12 patients for 6 to 25 months after the treatment, and the results from all patients are remarkable:  The tumor is undetectable on MRI scan and endoscopic examination; No progression or recurrence had been reported during the follow-up period; No severe adverse events have been reported for all patients since the treatment. This type of outstanding treatment outcome has not happened before. Genetic Testing Played a Critical Role  This unprecedented treatment outcome proved that developing genetic testing technology and applying it to cancer treatment is worth its decade-long research efforts.  All patients received genetic testing before being selected for the clinical trial. These 12 patients were recruited for the trial because they tested positive for a genetic instability called mismatch repair deficiency (MMR-d). Research has shown that patients with MMR-d may respond better to dostarlimab treatment than patients without it. The genetic testing on MMR-d played a critical role in successfully treating this cohort of patients. Actually, the combination of genetic-testing-based patient selection and immunotherapy led to the complete remission of all patients in this clinical trial.  NFCR is a Pioneer in Genetic Testing Research The National Foundation for Cancer Research (NFCR) is a pioneer in funding genetic testing research. As early as 2005, NFCR started to support cancer molecular profiling research at the Translational Genomics Research Institute (TGen). Today, molecular profiling and other genetic testing technologies have become powerful tools for doctors to match patients with personalized therapies for their cancers. With the rapid adoption of genetic testing technology in hospitals, we will see more successful cases like this in the future. Precision medicine combined with immunotherapy provides a better treatment option for untreatable or uncontrollable cancers under standard therapies. Reference: PD-1 Blockade in Mismatch Repair–Deficient, Locally Advanced Rectal Cancer. The New England Journal of Medicine, June 23, 2022.

What is Genomic Sequencing, and Who Can Benefit?

There's a paradigm shift taking place in the world of cancer treatment. Experts are moving away from an organ-focused approach to treatment, like using radiation to treat the specific area affected by cancer. Instead, they're looking at genomic sequencing.  Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of an individual's genes. Regarding cancer, genomics allows experts to examine DNA to determine an individual's risk of cancer through genomic sequencing. This means that oncologists can provide more individualized treatment options for patients using precision medicine.  How can cancer risk be determined through genomic sequencing? Parents pass along many traits to their children, such as hair and eye color. Unfortunately, the risk of developing certain types of cancer can also pass along. By examining DNA, experts can identify certain changes in a person's DNA known for increasing their risk of developing various types of cancer. However, not all cancers pass genetically. In fact, only five to ten percent of all cancers are believed to have an inherited gene mutation. It is important to note that no test can provide exact answers about a person's inherited cancer risk. Genetic testing can tell whether a specific genetic mutation exists in the DNA. However, it cannot tell whether an individual will develop the disease associated with that mutation later in life or not. What is the benefit of genomic sequencing? Genomic sequencing cannot prevent a cancer diagnosis but can help identify cancer-related DNA mutations. This means an individual can implement precautionary measures. These measures could include making healthy lifestyle changes, such as exercising regularly, ceasing smoking, or reducing alcohol consumption. Depending on the type of mutation, medications may be available to reduce one's risk of developing cancer. Similarly, genomic sequencing may highlight the option of surgery to remove an organ or gland to prevent cancer from forming or promote undergoing more health screenings regularly. At three years old, Greyson started to experience severe pain in his lower back. Doctors found that Greyson had a large tumor on his spine called ganglioneuroblastoma. See how genomic sequencing played a role in his treatment plan. Greyson is alive today thanks to the hard work of researchers, doctors, and the donors who support their work.  Who should utilize genomic sequencing? Experts typically only recommend genetic sequencing for patients whose families have a history of certain cancers or patterns of cancer. Doctors may order genetic testing for people that have: Multiple first-degree relatives with cancer diagnoses; Numerous relatives who have been diagnosed with the same cancer on one side of the family; A family history of cancers linked to a single gene mutation, such as breast cancer, ovarian cancer, or pancreatic cancer; Family member(s) who has been diagnosed with more than one type of cancer; Family member(s) who has been diagnosed with cancer at a younger age than typically seen for that cancer, such as colon cancer; Close relatives who have been diagnosed with cancers linked to rare hereditary cancer syndromes, such as Hereditary Breast & Ovarian Cancer Syndrome (HBOC), Cowden Syndrome, or Lynch Syndrome; or Family member(s) who has been diagnosed with [...]

Genetic Testing: Learning More About Your Cancer Risk

Genetic testing can be an important tool in helping patients learn about their inherited cancer risk, but the results are not always as clear as patients might expect. Just as traits such as hair color and eye color can be passed down from parents to their children, so too can the risk for developing certain types of cancer. Scientists know that certain inherited gene mutations — small changes in a person’s DNA — can increase a person’s risk for developing diseases such as breast cancer, ovarian cancer, and colon cancer. Genetic testing examines a person’s DNA to determine if such mutations are present, helping patients better understand their cancer risk and, in some cases, allowing them to take charge of their health before receiving a devastating diagnosis. Understanding the Basics of Genetic Testing Only five to 10 percent of all cancers are believed to be tied to an inherited gene mutation.1 Genetic testing can help determine whether an individual has inherited a specific gene mutation (or mutations) that put him or her at higher risk for developing certain cancers. Most genetic tests require a small blood sample from the patient, but some tests can be performed using urine, saliva, or a cheek swab. The sample is sent to a special laboratory and results are usually provided to the patient’s doctor or genetic counselor within several weeks.2 Genetic testing can return one or a combination of the following results: Positive: The laboratory identified a genetic mutation that is associated with an inherited cancer risk.2 Negative: The laboratory did not find the specific genetic mutation (or mutations) that the test was designed to detect.2 Inconclusive: The laboratory was not able to determine whether a specific genetic mutation (or mutations) was present in the sample provided.2 Variance of Uncertain Significance: The laboratory identified a genetic mutation that has not been previously associated with cancer.2 No test can provide exact answers about a person’s inherited cancer risk. Genetic testing can tell you whether a specific genetic mutation is present in your DNA, but it cannot tell you for certain that you will develop the disease associated with that mutation later in life.3 Knowing Your Cancer Risk: Is Genetic Testing Right for You? Doctors often only recommend genetic testing for patients whose families have a history of certain cancers or patterns of cancer. According to the American Cancer Society, people who meet the following criteria might consider genetic testing: Cancer diagnoses in multiple first-degree relatives, including parents, siblings, or children1 Numerous relatives on one side of the family who have been diagnosed with the same cancer1 Family history of cancers linked to a single gene mutation, such as breast cancer, ovarian cancer, or pancreatic cancer1 Family member(s) who has been diagnosed with more than one type of cancer1 Family member(s) who has been diagnosed with cancer at a younger age than typically seen for that cancer, such as colon cancer1 Close relatives who have been diagnosed with cancers linked to rare hereditary cancer syndromes, such as Hereditary Breast & Ovarian Cancer Syndrome (HBOC), Cowden Syndrome, or Lynch Syndrome1 Family member(s) who has been diagnosed with […]