Research for Cancer

NCI’s Investment in Pediatric Cancer Research

To learn more about the research NCI conducts and supports in pediatric cancer, visit the NCI Funded Research Portfolio (NFRP). The NFRP includes information about research grants, contract awards, and intramural research projects funded by NCI. When exploring this information, it should be noted that approximately half of the NCI budget supports basic research that may not be specific to one type of cancer. By its nature, basic research cuts across many disease areas, contributing to our knowledge of the underlying biology of cancer and enabling the research community to make advances against many cancer types. For these reasons, the funding levels reported in NFRP may not definitively report all research relevant to a given category.

Other NCI programs and activities relevant to pediatric cancer include:

  • The Therapeutically Applicable Research To Generate Effective Treatments (TARGET) initiative is identifying prognostic markers and therapeutic targets to develop new, more effective treatments for children with cancer.
  • The Biomarker, Imaging and Quality of Life Studies Funding Program (BIQSFP) supports biomarker, imaging, and quality-of-life studies, with or without cost-effectiveness analysis, as part of randomized cancer clinical trials. Nine BIQSFP studies are focusing on biomarkers or quality of life in six childhood cancers.
  • The NCI-supported Childhood Cancer Survivor is following approximately 35,000 survivors and 8,000 siblings to assess their mortality rates, determine their risks of developing subsequent cancers, and better understand the long-term effects of cancer treatments on the heart, the lungs, and fertility.
  • The Center for Cancer Research’s Pediatric Oncology Branch conducts basic science research and clinical trials to improve outcomes for children with cancer or genetic tumor predisposition syndromes.
  • The Epidemiology and Genomics Research Program supports research and resources focusing on interdisciplinary and translational cancer research, including three Childhood Cancer Epidemiology Consortia that conduct multidisciplinary research on clinical, infectious, environmental, and genetic risk factors in the etiology of childhood cancer.
  • The Tumor Microenvironment Network (TMEN) is exploring the role of the microenvironment in tumor initiation and progression. One TMEN center is conducting research to identify inhibitors of environment-mediated drug resistance pathways and test these in clinical trials in children with ALL and neuroblastoma.

Source: NCI (NIH)1

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Back to: « Cancer

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NCI supports a broad range of research to better understand the causes, biology, and patterns of childhood cancers and to identify the best ways to successfully treat children with cancer. In the context of clinical trials, researchers are treating and learning from young cancer patients. Researchers are also following childhood cancer survivors to learn about health and other issues they may face as a result of their cancer treatment. To learn more, see Childhood Cancers Research.

Source: NCI (NIH)2

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The 2017 CDC National Cancer Conference will be held on August 14—16, 2017, in Atlanta. Co-sponsored by the National Association of Chronic Disease Directors, the conference is an excellent opportunity to network with cancer control partners from around the country.

Source: CDC Cancer3

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The AIHW produces Cancer in Australia every 2 years. The report provides a comprehensive national overview on cancer, including the latest available data and projections, and trends over time. The Australian Cancer Incidence and Mortality (ACIM) books are produced every year and provide summary statistics, tables and graphs by age, year and sex for major cancers and all cancers combined. Detailed spotlight reports on selected cancers are produced regularly.

Source: Australian Institute of Health and Welfare4

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During his State of the Union address in January, President Obama announced the “Cancer Moonshot” initiative to speed up cancer research. The initiative aims to make more therapies available to more patients sooner. It also seeks to improve our ability to prevent cancer and detect it at an early stage.

NIH MedlinePlus magazine sat down with Dinah Singer, PhD, one of the three co-chairs of the Cancer Moonshot Initiative’s Blue Ribbon Panel and Director of the National Cancer Institute’s Division of Cancer Biology, to learn about its progress.

What should the public know about the goals of the Moonshot?

The President’s memo outlined three goals. One is to speed up progress regarding cancer. Number two is to help all parts of the cancer community join forces—from academics to the private sector and government agencies. The third goal is to increase data sharing across these sectors.

We have been charged with speeding up our knowledge of cancer—the basis of the disease and how it progresses. This will depend on expanding and supporting new research. The President’s memo says we should do in five years what we’d normally do in 10.

We ended up having more than 150 people from the cancer community involved in making an action plan of research options that would benefit cancer patients to better prevent, diagnose, and treat cancer.

What areas have been identified for early research under this new initiative?

Rather than look at specific types of cancer, we’re looking more broadly at global barriers. For instance, we’re looking at access to clinical trials. Today, only about five percent of all cancer patients are enrolled in clinical trials. One of the recommended actions is to develop a network that will engage patients directly and increase their access to studies.

That way, any patient anywhere in the country can register, have their tumor genotyped, and be pre-registered for a clinical trial for which they are eligible. This creates a database of research and clinical information to help us learn more about the different kinds of cancers.

“It takes all cancer patients to cure one patient.”

  • Dr. Dinah Singer, co-chair, Cancer Moonshot Initiative Blue Ribbon Panel

Another recommendation proposes to screen cancer patients for the presence of genes that predispose them to cancer. If the patient is a carrier, we could offer their close relatives a chance to be screened for that gene and allow early detection of a cancer. This has the potential to save hundreds of thousands of lives.

Other cancers that we focus on are those in people who don’t have a cancer-related gene. In many cases, those cancers can be prevented through means that we know work. For instance, we know cervical cancer can be prevented with HPV shots. Quitting smoking reduces lung cancer and early screening reduces colon cancer.

Most people think, “We’ve already done huge amounts with tobacco cessation,” but there are huge gaps. For instance, one gap is in people who have been diagnosed with lung cancer. There are very few programs to help those patients stop smoking.

Enhanced data sharing is a theme running through all these actions. To paraphrase, it takes all cancer patients to cure one patient. What I mean is that in order to understand any one tumor, we have to look at thousands to predict how the one will respond. To do that, we have to be able to share data.

What are some approaches that could boost data sharing?

What I’ve found is there is a lot more interest in sharing data than people presume. The difficulties are more technical. Different researchers use different formats. This is what we’ll need to address.

An incentive is that if I share my data, you’ll share your data. Together, we’ll accomplish a lot more. Drug companies will want to share some of their data to be able to work with scientists. The idea is to link everyone up and promote data sharing.

Source: MedLinePlus Magazine (NIH)5

Treatment Research for Cancer

For surgeons, removing a tumor is a balancing act. Cut out too much and you risk removing healthy tissues that have important functions. Remove too little and you may leave behind cancer cells that could grow back into a tumor over time.

NIH-funded researchers are developing new technologies to help surgeons determine exactly where tumors end and healthy tissue begins. Their ultimate goal is to make surgery for cancer patients safer and more effective.

“Currently, surgeons view MRI and CT scans taken prior to an operation to establish where a tumor is located and to plan a surgical approach that will minimize damage to healthy tissues,” says Dr. Steven Krosnick, an NIH expert in image-guided surgery. “But once the operation has begun, surgeons generally rely only on their eyes and sense of touch to distinguish tumor from healthy tissue.”

Surgeons go through many years of training to understand the subtle cues that can distinguish tumor from normal surroundings. Sometimes the tumor is a slightly different color than healthy tissue, or it feels different. It might also bleed more readily or could contain calcium deposits. Even with these cues, however, surgeons don’t always get it right.

Source: NIH News in Health (NIH)6

Research for Cancer

Immunotherapy: Patient’s Own Cells Helped Fight Cancer

An experimental therapy developed at NIH used a patient’s own immune system to attack and shrink her tumors. With further research, this type of immunotherapy might be used to treat many common cancers.

Source: NIH News in Health (NIH)7

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Tai Chi: NIH-funded researchers are now studying Tai Chi—a sequence of slow, graceful body movements—to see how it affects fitness and stress in cancer survivors.

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Supplements: Supplement Use and Cancer

NIH-funded researchers at the Fred Hutchinson Cancer Research Center wanted to investigate how common supplement use among cancer patients might be. They analyzed 32 studies published between 1999 and 2006 that looked at how many adult cancer patients and survivors used vitamin and mineral supplements.

The researchers found widespread supplement use nationwide. Overall, up to 4 out of 5 cancer patients and survivors took some kind of vitamin or mineral supplement. Breast cancer survivors had the highest rates of use. Up to about 9 in 10 took supplements. In comparison, about half of all U.S. adults take vitamin or mineral supplements.

Up to 70% of cancer patients and survivors who used supplements did not discuss it with their doctors. Yet it’s important for physicians to know when their patients are taking supplements, said Dr. Cornelia M. Ulrich, one of the researchers. “Some vitamins, such as folic acid, may be involved in cancer progression while others, such as St. John’s wort, can interfere with chemotherapy,” she explained.

This study suggests that scientists need to learn more about how dietary supplements affect cancer treatment, survival and quality of life. In the meantime, no matter what your medical condition, it’s always a good idea to discuss any supplement use with your doctor.

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Fluorescent Tumor Paint: Fluorescent Tumor Paint

Researchers created fluorescent molecules that cause cancer cells to glow. The molecules can be injected before surgery and are just taken up by cancer cells. Surgeons can see the glowing cancer tissue or tumors using a special camera. Researchers are also developing molecules to light up nerves, which can get wrapped up in tumors. Developer: Quyen Nguyen, University of California, San Diego.

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Interstitial Pressure Sensor: Interstitial Pressure Sensor

Interstitial pressure sensor could help doctors determine optimal times for delivering chemotherapy/radiation to cancer patients.

Prevention Research for Cancer

Scientists are studying many different ways to help prevent cancer, including the following:

Source: NCI (NIH)8

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Interventions That are Known to Lower Cancer Risk

Key Points

  • Chemoprevention is being studied in patients who have a high risk of developing cancer.
  • New ways to prevent cancer are being studied in clinical trials.

An intervention is a treatment or action taken to prevent or treat disease, or improve health in other ways. Many studies are being done to find ways to keep cancer from starting or recurring (coming back).

Chemoprevention is being studied in patients who have a high risk of developing cancer.

Chemoprevention is the use of substances to lower the risk of cancer, or keep it from recurring. The substances may be natural or made in the laboratory. Some chemopreventive agents are tested in people who are at high risk for a certain type of cancer. The risk may be because of a precancerous condition, family history, or lifestyle factors.

Some chemoprevention studies have shown good results. For example, selective estrogen receptor modulators (SERMS) such as tamoxifen or raloxifene have been shown to reduce the risk of breast cancer in women at high risk. Finasteride and dutasteride have been shown to lower the risk of prostate cancer, but it is not known if these drugs lower the risk of death from prostate cancer.

Source: NCI (NIH)9

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New ways to prevent cancer are being studied in clinical trials.

Chemoprevention agents that are being studied in clinical trials include COX-2 inhibitors. They are being studied for the prevention of colorectal and breast cancer. Aspirin is being studied for the prevention of colorectal cancer.

Clinical trials are taking place in many parts of the country. Check NCI's Cancer Clinical Trials Registry for cancer prevention trials that are now accepting patients.

See the NCI website for more information about cancer prevention.

Source: NCI (NIH)10

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Interventions That Are Not Known to Lower Cancer Risk

Key Points

  • Vitamin and dietary supplements have not been shown to prevent cancer.
  • New ways to prevent cancer are being studied in clinical trials.

Vitamin and dietary supplements have not been shown to prevent cancer.

An intervention is a treatment or action taken to prevent or treat disease, or improve health in other ways.

There is not enough proof that taking multivitamin and mineral supplements or single vitamins or minerals can prevent cancer. The following vitamins and mineral supplements have been studied, but have not been shown to lower the risk of cancer:

The Selenium and Vitamin E Cancer Prevention Trial (SELECT) found that vitamin E taken alone increased the risk of prostate cancer. The risk continued even after the men stopped taking vitamin E. Taking selenium with vitamin E or taking selenium alone did not increase the risk of prostate cancer.

Vitamin D has also been studied to see if it has anticancer effects. Skin exposed to sunshine can make vitamin D. Vitamin D can also be consumed in the diet and in dietary supplements. Taking vitamin D in doses from 400-1100 IU / day has not been shown to lower or increase the risk of cancer.

The VITamin D and OmegA-3 TriaL (VITAL) is under way to study whether taking vitamin D (2000 IU/ day) and omega-3 fatty acids from marine (oily fish) sources lowers the risk of cancer.

The Physicians' Health Study found that men who have had cancer in the past and take a multivitamin daily may have a slightly lower risk of having a second cancer.

Source: NCI (NIH)11

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Cancer prevention clinical trials are used to study ways to prevent cancer.

Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer.

The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.

Source: NCI (NIH)12

Prevention Research for Cancer

Chocolate: But the evidence that chocolate can reduce cancer or death rates in people is still weak. “There are a few studies that show some effect,” Su says, “but the findings so far are not consistent.”

Some research also suggests that chocolate might help prevent diabetes. However, the challenges in proving this link are similar to those of heart disease and cancer.

Source: NIH News in Health (NIH)13

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Vitamin E: Vitamin E Results Disappoint

Vitamin E supplements don’t protect healthy women against heart attacks and stroke, according to the latest results from the Women’s Health Study, a long-term clinical trial funded by the National Heart, Lung, and Blood Institute (NHLBI) and National Cancer Institute (both part of NIH). The vitamin also had no effect on the most common cancers in women or on total cancers.

An estimated 13.5% of women in the U.S. take vitamin E supplements. Laboratory and animal research has suggested that vitamin E might reduce the chance of clogged and blocked arteries. Observational studies suggested that people who eat foods high in vitamin E or take supplements have a lower risk of heart disease. Although several clinical trials have found little cardiovascular benefit from vitamin E, these trials were not conclusive. The Women’s Health Study aimed to look at the long-term effects of vitamin E among a large number of healthy women, studying 39,876 women age 45 years and older over an average of 10.1 years.

The study found that vitamin E didn’t significantly affect major cardiovascular “events”—a combination of nonfatal heart attack, nonfatal stroke and cardiovascular death. There were findings that warrant further study, however. There was some reduction in cardiovascular deaths among women taking the vitamin. Women 65 and older taking vitamin E also had a decrease in heart attacks and cardiovascular deaths (but not strokes). Total deaths, however, were unaffected by vitamin E.

NHLBI director Dr. Elizabeth G. Nabel says women shouldn’t rely on vitamin E supplements to prevent heart attack and stroke. “Instead,” she said, “women should focus on well-proven means of heart disease prevention, including leading a healthy lifestyle and controlling risk factors such as high blood pressure and high cholesterol.”

Source: NIH News in Health (NIH)14

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Aspirin: In 2011, for example, a meta-analysis of eight randomized clinical trials that compared the risk of cancer death among participants who took daily aspirin for 4 years or more and those who took no aspirin found that, overall, aspirin use lowered the risk of dying from cancer by approximately 20 percent.

By looking at data from individual participants in these trials, the researchers, led by Peter Rothwell, M.D., Ph.D., FRCP, of the University of Oxford, showed that this risk reduction was due mainly to fewer cancer deaths among participants who took aspirin for at least 5 years. The largest drop in risk was for gastrointestinal cancers, particularly colorectal cancer. The study also showed more modest risk reductions for several other common cancers, including lung and prostate.

The research findings on aspirin, however, are not clear cut. Not every study of aspirin and cancer has shown that it reduces the risk of developing or dying from cancer. And most of the research linking aspirin or other nonsteroidal anti-inflammatory drugs (NSAIDs) and a lower risk of developing or dying from cancer have had limitations; most have been either observational studies, which cannot establish causal effect, or analyses of clinical trials testing aspirin’s effect on other health measures, most often vascular outcomes. None of the trials included in the 2011 meta-analysis, for example, was designed specifically to assess whether aspirin reduces the rate of cancer or cancer deaths.

But more definitive evidence may be on the horizon. In particular, researchers in search of answers are looking to several large clinical trials that have been launched to test whether aspirin reduces the risk of cancer incidence, death due to cancer, or both.

Source: NCI (NIH)15

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Aspirin: How Does Aspirin Work against Cancer?

Researchers believe that aspirin may work, at least in part, by blocking the activity of COX-1 and COX-2 enzymes, lynchpins in the body’s inflammatory response. Inflammation is a normal response to tissue injury or infection that helps the injured tissue to heal or to clear the infection. In chronic inflammation, the inflammatory process does not end when it should. Over time, chronic inflammation can cause changes, such as the formation of new blood vessels and DNA mutations, which can promote tumor development and growth.

Source: NCI (NIH)16

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Physical Activity: Physical Activity May Reduce Risk of 13 Types of Cancer

New research has shown that greater levels of leisure-time physical activity were associated with a lower risk of developing 13 types of cancer.

The risk of developing seven of the 13 cancer types was as much as 20 percent lower among the most active participants in the study, compared to the least active participants. The most active people did the equivalent of seven hours of brisk walking or two and a half hours of jogging each week. Examples of physical activity included walking, running, swimming, and other fitness activities.

This research from the National Cancer Institute and the American Cancer Society supports the importance of physical activity in cancer prevention.

Researchers used information from 1.44 million people, ages 19 to 98, from the United States and Europe. The study’s participants reported on their own physical activity.

The risk of developing the first seven cancer types was 20 percent or lower among the most active people as compared with the least active people.

For the remaining six, risk was 10 percent to 20 percent lower among the most active people.

The lesson? No matter what type of body you have or your smoking history, physical activity is important.

For more information about cancer and this study, visit NIH National Cancer Institute or call NCI’s Cancer Information Service at 1-800-4-CANCER.

Source: MedLinePlus Magazine (NIH)17

Diagnostic Research for Cancer

Clinical DNA Sequencing

Until recently, most genetic testing for cancer focused on testing for individual inherited mutations. But, as more efficient and cheaper DNA sequencing technologies have become available, sequencing of an individual’s entire genome or the DNA of an individual’s tumor is becoming more common.

Clinical DNA sequencing can be useful in detecting many genetic mutations at one time. Targeted multiple-gene panels test for many inherited mutations or somatic mutations at the same time. These panels can include different genes and be tailored to individual tumor types. Targeted gene panels limit the data to be analyzed and include only known genes, which makes the interpretation more straightforward than in broader approaches that assess the whole genome (or tumor genome) or significant parts of it. Multiple-gene panel tests are becoming increasingly common in genetic testing for hereditary cancer syndromes.

Tumor sequencing can identify somatic mutations that may be driving the growth of particular cancers. It can also help doctors sort out which therapies may work best against a particular tumor. For instance, patients whose lung tumors harbor certain mutations may benefit from drugs that target these particular changes.

Testing tumor DNA may reveal a mutation that has not previously been found in that tumor type. But if that mutation occurs in another tumor type and a targeted therapy has been developed for the alteration, the treatment may be effective in the “new” tumor type as well.

Tumor sequencing can also identify germline mutations. Indeed, in some cases, the genetic testing of tumors has shown that a patient’s cancer could be associated with a hereditary cancer syndrome that the family was not aware of.

As with testing for specific mutations in hereditary cancer syndromes, clinical DNA sequencing has implications that patients need to consider. For example, they may learn incidentally about the presence of germline mutations that may cause other diseases, in them or in their family members.

Source: NCI (NIH)18

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Measures of participation in cancer screening programs tell us how many people participate in these programs, and whether factors such as remoteness, socioeconomic area or Indigenous status mean that people are more or less likely to miss out on the benefits of screening. High participation in cancer screening programs is needed to gain the greatest benefits in terms of reducing illness and death from these cancers.

The AIHW publishes annual reports that monitor data for each of the three screening programs based on key performance indicators.

Source: Australian Institute of Health and Welfare19

Causal Research for Cancer

Your family’s medical history is one of the best tools for predicting your risk for developing cancer and other disorders. That’s why doctors usually ask about your family’s health the first time you visit.

NIH-funded researchers across the country set out to learn how changes in family history might affect a patient’s cancer risk and the screening tests recommended by standard guidelines. They combed through family health data collected over a decade from more than 11,000 people who had a personal or family history of cancer.

Their study focused on colon, breast and prostate cancers. Family history of these cancers may warrant earlier screening or more sensitive tests than those recommended for other people.

The analysis showed that family histories of cancer change significantly when people are between ages 30 and 50 years. The researchers recommend that doctors maintain accurate information for their patients by getting a comprehensive family history by age 30, and then updating it at least every 5 to 10 years.

“Many patients make lists of questions for the doctor before their appointments, and we hope they add changes to their family history to those lists,” says lead researcher Dr. Sharon Plon of Baylor College of Medicine. “Our results are relevant for all patients, since anyone may have a change that would affect their cancer screening recommendations.”

Source: NIH News in Health (NIH)20

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Overall, the common factor in the above disorders is that the disease endows patients with a predisposition to cancer. In only some of these syndromes do patients actually exhibit neurodegenerative features, which suggests that any defect in the response to genotoxic stress does not lead to neurodegeneration. Rather, certain tissues may be more dependent on a specific type of damage response. For instance, terminally-differentiated cells are likely more dependent on genotoxic stress responses than tissues with proliferative potential. Cells that are actively proliferating, however, are usually extremely sensitive to genotoxic insults, unless the cell can repair damage prior to cell division. It is also possible that mutagenesis is an intrinsic problem in these cells or tissues rather than the result of a secondary sensitivity to radio- or chemotherapy.

Source: NINDS (NIH)21

Causal Research for Cancer

The 100,000 Genomes Project: The 100,000 Genomes Project

The NHS recently started a major research project looking at all the DNA in 100,000 patients. It's the largest project of its type in the world.

Those invited to take part have rare conditions where the genetic cause isn't known, or severe infections.

It's hoped the project will help identify the causes of many more conditions, and determine whether testing all of someone's genes is a quicker and better way to identify the cause of illnesses.

At the moment genes are tested one by one, which takes a long time, and may not find people with changes (mutations) in more than one gene.

People with cancer will be studied to find out whether the cause is genetic. The DNA of their tumours will also be tested.

This should lead to better tests to find out exactly which medicines are most effective in treating individual cancers.

The 100,000 Genomes Project will also help find out why some people have bad reactions to some medicines, and why some medicines don't work in some people. This will make it possible to avoid using medicines that will harm you or have no effect.

Find out more about The 100,000 Genomes Project on the Genomic England website.

Source: NHS Choices UK22

Genetics Research for Cancer

What research is being done to improve genetic testing for cancer?

Research to find newer and better ways of detecting, treating, and preventing cancer in people who carry genetic mutations that increase the risk of certain cancers is ongoing. Scientists are also doing studies to find additional genetic changes that can increase a person’s risk of cancer.

NCI runs an active program of genome-wide association studies (GWAS) through its Cancer Genomics Research Laboratory. This technique compares the genomes from many different people to find genetic markers associated with a particular observable characteristic or risk of disease. The goal is to understand how genes contribute to the disease and to use that understanding to help develop better prevention and treatment strategies.

NCI also funds the Cancer Genetics NetworkExit Disclaimer. This network is a resource for researchers studying inherited cancer risk, the integration of this information into medical practice, and behavioral, ethical, and public health issues associated with human genetics.

Additional NCI research is focused on improving genetic counseling methods and outcomes, the risks and benefits of at-home genetic testing, and the effects of advertising of these tests on patients, providers, and the health care system. Researchers are also working to improve the laboratory methods available for genetic testing.

Source: NCI (NIH)23

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A key finding from genomic studies is the extent to which the molecular characteristics of childhood cancers correlate with their tissue (cell) of origin. As with most adult cancers, mutations in childhood cancers do not arise at random, but rather are linked in specific constellations to disease categories. A few examples include the following:

  • The presence of H3.3 and H3.1 K27 mutations almost exclusively among pediatric midline high-grade gliomas.
  • The loss of SMARCB1 in rhabdoid tumors.
  • The presence of RELA translocations in supratentorial ependymomas.
  • The presence of specific fusion proteins in different pediatric sarcomas.

Another theme across multiple childhood cancers is the contribution of mutations of genes involved in normal development of the tissue of origin of the cancer and the contribution of genes involved in epigenomic regulation.

Structural variations play an important role for many childhood cancers. Translocations resulting in oncogenic fusion genes or overexpression of oncogenes play a central role, particularly for the leukemias and sarcomas. However, for other childhood cancers that are primarily characterized by structural variations, functional fusion genes are not produced. Mechanisms by which these recurring structural variations have oncogenic effects have been identified for osteosarcoma (translocations confined to the first intron of TP53) and medulloblastoma (structural variants juxtapose GFI1 or GFI1B coding sequences proximal to active enhancer elements leading to transcriptional activation [enhancer hijacking]).[1,2] However, the oncogenic mechanisms of action for recurring structural variations of other childhood cancers (e.g., the segmental chromosomal alterations in neuroblastoma) need to be elucidated.

Understanding of the contribution of germline mutations to childhood cancer etiology is being advanced by the application of whole-genome and exome sequencing to cohorts of children with cancer. Estimates for rates of pathogenic germline mutations approaching 10% have emerged from studies applying these sequencing methods to childhood cancer cohorts.[3-5] In some cases, the pathogenic germline mutations are clearly contributory to the patient’s cancer (e.g., TP53 mutations arising in the context of Li-Fraumeni syndrome), whereas in other cases the contribution of the germline mutation to the patient’s cancer is less clear (e.g., mutations in adult cancer predisposition genes such as BRCA1 and BRCA2 that have an undefined role in childhood cancer predisposition).[4,5] The frequency of germline mutations varies by tumor type (e.g., lower for neuroblastoma and higher for osteosarcoma),[5] and many of the identified germline mutations fit into known predisposition syndromes (e.g., DICER1 for pleuropulmonary blastoma, SMARCB1 and SMARCA4 for rhabdoid tumor and small cell ovarian cancer, TP53 for adrenocortical carcinoma and Li-Fraumeni syndrome cancers, RB1 for retinoblastoma, etc.). The germline contribution to the development of specific cancers is discussed in the disease-specific sections that follow.

Source: NCI (NIH)24

Clinical Trials for Cancer

If my child is treated at a children’s cancer center, will he or she automatically be part of a clinical trial?

No. Participation in a clinical trial is voluntary, and it is up to each family to decide if clinical trial participation is right for their child.

Source: NCI (NIH)25

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Clinical Trials

Before any new treatment can be made widely available to patients, it must be studied in clinical trials (research studies) and found to be safe and effective in treating disease. Clinical trials for children and adolescents with cancer are generally designed to compare potentially better therapy with therapy that is currently accepted as standard. Most of the progress made in identifying curative therapies for childhood cancers has been achieved through clinical trials.

Our site has information about how clinical trials work. Information specialists who staff NCI’s Cancer Information Service can answer questions about the process and help identify ongoing clinical trials for children with cancer.

Source: NCI (NIH)26

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What else can you tell us about clinical trials?

The idea is to have a network where cancer patients can register. In terms of clinical trials, immunotherapy is an exciting new tool in the treatment of cancer. Immunotherapy is a treatment designed to boost the body’s natural defenses to fight cancer.

I’ve been watching its development for 30 or 40 years. It has had a quantum leap in the past few years. We’ll need a lot of clinical trials to understand the tumors that respond and the tumors that don’t respond to this treatment.

Many times, patients respond well to a standard of care. Other times, they’ll respond and then relapse. The question again is why? Can we predict who will respond and benefit from therapy and who will not? The action here is having tumors biopsied, storing those samples, and analyzing them in future research. These would be small clinical trials because they would be very focused. But they would be very good at helping us find which patients are going to benefit from what therapy.

As someone who has been in cancer research for more than four decades, what does the Cancer Moonshot mean to you?

The way our knowledge has exploded has offered so many new opportunities for people with creative ideas to move the field forward. What we’re limited by at this point is our resources. The passion and commitment of the research community is amazing and inspiring.

As a research scientist running a lab, it’s been exciting to see the cancer community come together because of this initiative. There’s lots of hope that the Moonshot will take off. We’ve outlined goals and begun strategizing to guide NCI’s planning going forward.

We had a website called Cancer Research Ideas . Anyone could submit thoughts and ideas about cancer research. Between that, email, and other outreach, we had 1,600 responses, all of which we read and considered in our deliberations. Although the Cancer Research Ideas site is not accepting new ideas, the ideas that were posted still can be viewed.

Source: MedLinePlus Magazine (NIH)27

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  1. Source: NCI (NIH): research/ progress/ snapshots/ pediatric
  2. Source: NCI (NIH): types/ childhood-cancers
  3. Source: CDC Cancer: cancer/ index.htm
  4. Source: Australian Institute of Health and Welfare: reports-statistics/ health-conditions-disability-deaths/ cancer/ about
  5. Source: MedLinePlus Magazine (NIH): magazine/ issues/ fall16/ articles/ fall16pg2-3.html
  6. Source: NIH News in Health (NIH): issue/ feb2016/ feature1
  7. Source: NIH News in Health (NIH): issue/ jun2014/ capsule1
  8. Source: NCI (NIH): about-cancer/ causes-prevention/ patient-prevention-overview-pdq
  9. ibid.
  10. ibid.
  11. ibid.
  12. Source: NCI (NIH): types/ cervical/ patient/ cervical-prevention-pdq
  13. Source: NIH News in Health (NIH): issue/ aug2011/ feature1
  14. Source: NIH News in Health (NIH): 2005/ August2005/ docs/ 02capsules.htm
  15. Source: NCI (NIH): about-cancer/ causes-prevention/ research/ aspirin
  16. ibid.
  17. Source: MedLinePlus Magazine (NIH): magazine/ issues/ fall16/ articles/ fall16pg28.html
  18. Source: NCI (NIH): about-cancer/ causes-prevention/ genetics
  19. Source: Australian Institute of Health and Welfare: reports-statistics/ health-welfare-services/ cancer-screening/ about
  20. Source: NIH News in Health (NIH): issue/ aug2011/ capsule1
  21. Source: NINDS (NIH): news_and_events/ proceedings/ dna_meeting_2001.htm
  22. Source: NHS Choices UK: conditions/ Genetics/ 
  23. Source: NCI (NIH): about-cancer/ causes-prevention/ genetics/ genetic-testing-fact-sheet
  24. Source: NCI (NIH): types/ childhood-cancers/ pediatric-genomics-hp-pdq
  25. Source: NCI (NIH): types/ childhood-cancers/ child-adolescent-cancers-fact-sheet
  26. Source: NCI (NIH): types/ childhood-cancers
  27. Source: MedLinePlus Magazine (NIH): magazine/ issues/ fall16/ articles/ fall16pg2-3.html

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