National Cancer Institute

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EGAPP™ Recommendation Statement: Genetic testing for Lynch Syndrome

EGAPP™ Recommendation Statement

EGAPP™ Recommendation Statement Adobe PDF file [PDF 219 KB]External Web Site Icon

“The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer (CRC) to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined.”

Summary of Findings on Genetic Testing for Lynch Syndrome for the General Public

General Public:
Genetic Testing for Lynch Syndrome

In 2009, the independent, non-federal Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working GroupExternal Web Site Icon reviewed the scientific evidence for genetic testing for Lynch syndrome (hereditary colorectal cancer) and developed a recommendation statement about the appropriate use of this testing. This brief summary of the EGAPP™ recommendation statement can help the general public understand what is intended by the EGAPP™ recommendation and where to find more information.

This information may be helpful for people with a recent diagnosis of colorectal cancer (cancer of the colon or rectum) and their close family members.

  • What is the purpose of genetic testing for Lynch syndrome for people newly diagnosed with colorectal cancer?

    Genetic testing is used to find out if a person’s colorectal cancer is hereditary (caused by an inherited gene change), so that family members can learn if they are also at increased risk.  This could help to protect them from getting this disease.

  • What is Lynch syndrome?

    About 3% of colorectal cancer cases are due to an inherited condition known as Lynch syndrome (sometimes referred to as hereditary nonpolyposis colorectal cancer or HNPCC).  People with this condition have a greatly increased chance to develop colorectal cancer, especially at a young age (younger than 50 years).  Children, sisters, and brothers of people with Lynch syndrome have a 50% chance to inherit the condition. Parents and other blood relatives such as grandparents, aunts, uncles, nieces and nephews are also at increased risk to have Lynch syndrome.

  • Who developed this recommendation?

    The EGAPP™ Working Group is a group of scientists and health care experts who review available research and evidence to make recommendations about the use of genetic tests.  This independent, non-government body includes representatives from universities, industry, clinical practice, insurance companies, and public health.

  • Did EGAPP™ recommend the use of genetic testing for newly diagnosed colorectal cancer patients?
    • YES:  The EGAPP™ Working GroupExternal Web Site Iconfound good scientific evidence to show that if individuals with colorectal cancer are found to have Lynch syndrome by genetic testing, their family members can benefit by:
      • undergoing genetic testing to learn if they are also at increased genetic risk.
      • if positive for the gene change, having earlier and more frequent screening which can prevent colorectal cancer.
    • They concluded that all people with a new diagnosis of colorectal cancer should be offered counseling and educational materials about genetic testing for Lynch syndrome.


Other Information

  • Are there other people the test might help?
    Although the EGAPP recommendation did not address use of testing in other situations, people with colorectal cancer diagnosed in the past (especially under age 50), and/or people with several family members with colorectal and/or uterine cancer may also benefit from genetic evaluation for Lynch syndrome.
  • How do I find out more about the condition/test?
    In addition to talking with your health care provider, the Web sites below provide additional information on colorectal cancer, Lynch syndrome, cancer genetic testing, and access to genetic counseling services.

    Health Professionals:
    More About the EGAPP™ Lynch Syndrome Recommendation

    This page contains more information about the EGAPP Lynch syndrome recommendation for health professionals.

    For more information about genetic testing for Lynch syndrome that is not part of the EGAPP recommendation, see More About Genetic Testing for Lynch Syndrome.

    EGAPP™ Evidence Review at a Glance

    Testing Approach Application Quality of Evidence
    Adequacy of information to address:
    Overall Recommendation*
    Analytic Validity Clinical Validity Clinical Utility
    DNA analysis of mismatch repair (MMR) genes: (MLH1, MSH2, MSH6, PMS2) Diagnostic Testing Adequate Convincing Adequate Sufficient evidence to recommend use for the benefit of relatives
    Microsatellite Instability (MSI) Preliminary (Screening) Test Convincing / Adequate
    Immunohisto-chemistry (IHC) Preliminary (Screening) Test Convincing / Adequate
    Methylation Status (BRAF V600E mutation) Preliminary (Screening) Test (Supplemental to IHC) Adequate

    *Overall recommendation was decided on the basis of a) evidence indicating moderate level of net health benefits to relatives, and b) contextual factors.

    EGAPP™ Recommendation Statement Adobe PDF file [PDF 219 KB]External Web Site Icon

    “The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer (CRC) to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined.”

    Considerations for Practice

    Note: See Contextual Factors Identified by EGAPP™ for more information.

    • All patients with a new diagnosis of colorectal cancer (regardless of age or family history) should be offered counseling and educational materials regarding genetic testing for Lynch syndrome.
      • The primary benefit will be the identification of relatives who also carry a gene mutation for Lynch syndrome. Affected relatives can be offered appropriate screening beginning at age 20-25.
    • Colonoscopy every one to two years is recommended for these patients and their relatives who test positive for Lynch syndrome beginning at age 20-25 years. Although there is not enough research to indicate that colorectal cancer due to Lynch syndrome should be treated differently than non-Lynch related colorectal cancer, individuals with Lynch syndrome are at increased risk for additional cancers and second primary colon tumors.
    • Individuals with colorectal cancer should be offered genetic testing even if there are no other family members with Lynch syndrome cancers. This is because family history was found to be less useful as a first step than strategies involving tumor testing in identifying Lynch syndrome in individuals with colorectal cancer. However, family history may still be an important decision tool for identifying individuals in the general population for referral to genetic counseling services to evaluate risk for hereditary colorectal cancer.

    See More Considerations for Practice for additional information that is not part of the EGAPP™ recommendation.

    Testing Approaches

    Several testing approaches are potentially effective for identifying Lynch syndrome. DNA analysis has the highest sensitivity and specificity, but is also the most expensive. Most protocols directed at screening unselected colon cancers begin with preliminary testing of tumor tissue by MSI and/or IHC (with or without BRAF mutation).

    • Diagnostic testing: Typically performed on blood; identifies an inherited mutation in one of the Lynch syndrome genes.
      • DNA analysis (gene sequencing, deletion/duplication testing) for the mismatch repair (MMR) genes: MLH1, MSH2, MSH6, and PMS2.
    • Preliminary (Screening) Tests: Performed on tumor tissue; does not identify Lynch (MMR) gene mutations, but is used to guide subsequent diagnostic testing via DNA analysis.
      • MSI testing of tumor tissue: those with high instability either proceed to DNA analysis for MLH1, MSH2, MSH6, and PMS2 or to IHC testing.
      • IHC testing of tumor tissue: those with negative staining would proceed to DNA analysis of the gene/genes indicated.
      • Modification of Strategy 3, such that tumor tissue of patients with negative staining for MLH1 on IHC is tested for the BRAF V600E mutation to determine methylation status.  If the BRAF mutation is not found, the individual continues on for MLH1 DNA analysis.

    For more information about genetic testing approaches for Lynch syndrome, please see the National Library of Medicine, GeneReviews Web siteExternal Web Site Icon. (Note: This Web site does not necessarily reflect the opinions or recommendations of the Centers for Disease Control and Prevention or the EGAPP Working Group.)

    Contextual Factors Identified by EGAPP

    • Due to limited benefit to the colorectal cancer (CRC) patient, informed consent before microsatellite instability (MSI) or immunohistochemistry (IHC) testing is recommended.
    • There is no substantial evidence to show that identifying Lynch syndrome through routine genetic testing would lead to adverse psychological outcomes.
    • Evidence shows that there are relatively high levels of counseling and testing uptake among relatives and adherence to screening if patient is mutation positive.Top of Page

    Research Gaps Identified by EGAPP

    The EGAPP™ working group identified the need for research to address the following:

    • Better quality research regarding analytical validity of testing and laboratory proficiency testing;
    • Better quality studies evaluating clinical validity of various testing strategies;
    • Higher quality studies assessing clinical outcomes/clinical utility, effectiveness of screening;
    • Cost-effectiveness analyses to address testing strategies and impact on relatives
      (see More Considerations for Practice for additional information that is not part of the EGAPP™ recommendation);
    • Studies to assess whether the clinical care and screening of CRC patients with Lynch syndrome should be altered.

    For more information about genetic testing for Lynch syndrome that is not part of the EGAPP recommendation, see More About Genetic Testing for Lynch Syndrome.



Database of all Genetic Association Studies in Colorectal Cancer

JNCI J Natl Cancer InstColorectal Cancer Gene Database Helpful in Furthering Research – click here for original article

The CRCgene database, which gathers all genetic association studies on colorectal cancer, allows for researchers to accurately interpret the risk factors of the disease and provides insight into the direction of further colorectal cancer research, according to a study published September 27 in the Journal of the National Cancer Institute.

Approximately 950,000 new cases of colorectal cancer are diagnosed each year. The risk of developing the disease also increases with age, and as life expectancy rises, the incidence continues to grow. These factors paired with rising health care costs have made both diagnosis and treatments for the disease costly. While diet and lifestyle may affect colorectal cancer incidence, so may genetic factors, and it is important to determine which genetic factors are most heavily associated with colorectal cancer incidence.

In order to determine the genetic factors associated with colorectal cancer, Julian Little, Ph.D., of the Department of Epidemiology and Community Medicine at the University of Ottawa and colleagues, gathered data from previously published guidelines for assessing cumulative evidence on genetic association studies, and performed meta-analyses on all the data, compiling all genetic association studies published in the field. The credibility of the studies was determined by the Venice criteria and the Bayesian False Discovery Probability (BFDP) test.

The researchers found 16 independent gene variants had the most highly credible links to colorectal cancer, with 23 variants. “The number of common, low-penetrance variants that appear to be associated with colorectal cancer is very much less than anticipated, therefore decreasing the feasibility of combining variants as a profile in a prediction tool for stratifying screening modalities on primary prevention approaches,” the authors write. Still, they feel that, “the analysis here provides a resource for mining available data and puts into context the sample sizes required for the identification of true associations.”

Risks of Primary Extracolonic Cancers Following Colorectal Cancer in Lynch Syndrome

JNCI J Natl Cancer Inst From Win et al Journal of the National Cancer Institute September 2012

Background Lynch syndrome is a highly penetrant cancer predisposition syndrome caused by germline mutations in DNA mismatch repair (MMR) genes. We estimated the risks of primary cancers other than colorectal cancer following a diagnosis of colorectal cancer in mutation carriers.

Methods We obtained data from the Colon Cancer Family Registry for 764 carriers of an MMR gene mutation (316 MLH1, 357 MSH2, 49 MSH6, and 42 PMS2), who had a previous diagnosis of colorectal cancer. The Kaplan–Meier method was used to estimate their cumulative risk of cancers 10 and 20 years after colorectal cancer. We estimated the age-, sex-, country- and calendar period–specific standardized incidence ratios (SIRs) of cancers following colorectal cancer, compared with the general population.

Results Following colorectal cancer, carriers of MMR gene mutations had the following 10-year risk of cancers in other organs: kidney, renal pelvis, ureter, and bladder (2%, 95% confidence interval [CI] = 1% to 3%); small intestine, stomach, and hepatobiliary tract (1%, 95% CI = 0.2% to 2%); prostate (3%, 95% CI = 1% to 5%); endometrium (12%, 95% CI = 8% to 17%); breast (2%, 95% CI = 1% to 4%); and ovary (1%, 95% CI = 0% to 2%). They were at elevated risk compared with the general population: cancers of the kidney, renal pelvis, and ureter (SIR = 12.54, 95% CI = 7.97 to 17.94), urinary bladder (SIR = 7.22, 95% CI = 4.08 to 10.99), small intestine (SIR = 72.68, 95% CI = 39.95 to 111.29), stomach (SIR = 5.65, 95% CI = 2.32 to 9.69), and hepatobiliary tract (SIR = 5.94, 95% CI = 1.81 to 10.94) for both sexes; cancer of the prostate (SIR = 2.05, 95% CI = 1.23 to 3.01), endometrium (SIR = 40.23, 95% CI = 27.91 to 56.06), breast (SIR = 1.76, 95% CI = 1.07 to 2.59), and ovary (SIR = 4.19, 95% CI = 1.28 to 7.97).

Conclusion Carriers of MMR gene mutations who have already had a colorectal cancer are at increased risk of a greater range of cancers than the recognized spectrum of Lynch syndrome cancers, including breast and prostate cancers.

Risks of Primary Extracolonic Cancers Following Colorectal Cancer in Lynch Syndrome

Table 2.

Cumulative risks (percent) and corresponding 95% confidence intervals (CIs) of primary extracolonic cancers during the 10 and 20 years following diagnosis of colorectal cancer for carriers of mismatch repair gene mutations

Cancer site 10 years 20 years
Risk, % (95% CI) Risk,% (95% CI)
Both sexes
    Kidney etc.*
(0.87 to 3.17) 5.15 (2.86 to 7.68)
    Urinary bladder 1.61 (0.65 to 2.75) 3.15 (1.37 to 5.20)
    Small intestine 0.92 (0.28 to 1.73) 4.00 (1.92 to 6.41)
    Stomach 0.66 (0.13 to 1.40) 1.15 (0.19 to 2.48)
    Hepatobiliary tract 0.83 (0.16 to 1.69) 1.42 (0.42 to 2.73)
    Prostate 2.74 (0.86 to 4.77) 5.90 (2.69 to 9.76)
    Endometrium 12.12 (7.66 to 17.11) 23.99 (16.79 to 32.84)
    Breast 1.94 (0.58 to 3.83) 11.38 (0.63 to 16.69)
    Ovary 0.94 (0.00 to 2.11) 2.08 (0.50 to 4.14)
  • * Kidney etc. included kidney, renal pelvis, ureter and other and unspecified urinary organs.

  • † Hepatobiliary tract included liver and intrahepatic bile duct, gall bladder, and other and unspecified parts of biliary tract.


    Patients who have had colorectal cancer and who are carriers of the DNA mismatch repair gene mutations that cause Lynch syndrome “have an increased risk of a greater range of cancers than the recognized spectrum of Lynch syndrome cancers, including breast and prostate cancers,” according to a study in the Journal of the National Cancer Institute.

    Previous studies had shown that mutation carriers “are at a substantially increased risk of cancers of the colon, rectum, endometrium, stomach, ovary, ureter, renal pelvis, brain, small bowel, hepatobiliary tract, and pancreas,” the authors noted. A major inherited cancer syndrome, Lynch syndrome is also known as hereditary nonpolyposis colorectal cancer (HNPCC).

    The study was based on data for 764 patients from the Colon Cancer Family Registry, evenly divided between men and women, who were carriers of the mismatch repair gene mutation and previously diagnosed with colorectal cancer. Most of the carriers (52%) were recruited in Australia and New Zealand, with 33% from the United States and 15% from Canada. The average age at diagnosis of colorectal cancer was 44 years.

    Compared with the general population, following colorectal cancer, carriers of mismatch repair gene mutations had a 70-fold increased risk for cancer of the small intestine, a 13-fold increased risk for cancer of the kidney, renal pelvis, and ureter or urethra, a 7-fold increased risk for cancer of the bladder, a 6-fold increased risk for hepatobiliary tract cancer, and a nearly 6-fold increased risk for gastric cancer. Men had a 2-fold increased risk of prostate cancer. The most common primary cancer following colorectal cancer for women with Lynch syndrome was endometrial cancer, with a 40-fold increased risk compared to the general population. There were 20 breast cancers and 6 ovarian cancers in the study population.

    “These new data provide further determination of cancer risks, potentially informing and justifying ongoing studies to create the evidence for effective screening methodologies and intervals in [mismatch repair] gene mutation carriers,” the researchers concluded. “Larger studies are needed to refine risk estimates separately for specific [mismatch repair] gene mutations to best inform policies on clinical risk management.” ■


Poor people are at a higher risk of colorectal cancer


Journal of the National Cancer Institute

Journal of the National Cancer Institute (Photo credit: Wikipedia)

September 5, 2012 — People with a relatively low socioeconomic status account for a disproportionate number of colorectal cancers in the United States. Now, for the first time, a large prospective, observational study has shed light on the degree to which behavior and body mass contribute to this disparity.

Over one third of the excess risk…could be explained by differences in…behavioral risk factors.

“This study showed that over one third of the excess risk of invasive adenocarcinoma of the colon and rectum resulting from low [socioeconomic status] could be explained by differences in…behavioral risk factors, particularly in an unhealthy diet,” conclude the authors, led by Chyke A. Doubeni, MD, MPH, from the Department of Family Medicine and Community Health at the University of Pennsylvania Perelman School of Medicine in Philadelphia.

In addition to diet, Dr. Doubeni and colleagues found that physical inactivity, smoking, and being overweight are likely contributors to this risk.

In their study, published online September 5 in the Journal of the National Cancer Institute, the authors looked at health behaviors, obesity, and colorectal cancer risk among Americans of all socioeconomic statuses.

They used the National Institutes of Health-AARP Diet and Health Study as their data source. Specifically, they looked at middle-aged and elderly people from 6 states (California, Florida, Louisiana, New Jersey, North Carolina, and Pennsylvania) and 2 metropolitan areas (Atlanta, Georgia and Detroit, Michigan). All of the participants enrolled in the study in 1995/96 and were followed through 2006. Health behaviors of the participants were determined using questionnaires.

Of the 506,488 study participants, 7676 developed colorectal cancer during the 10-year follow-up period.

How Class and Behavior/Body Mass Are Related

The authors evaluated the socioeconomic status of the participants in 2 ways: by census-tract data, which revealed “neighborhood socioeconomic status,” and by self-reported educational level (less than high school vs high school and more than high school).

On the basis of data from other studies on colorectal cancer and behavior, Dr. Doubeni and his team used statistical modeling to estimate the likely percentage of colorectal cancers mediated by behavioral risk factors.

They found that differences in socioeconomic status in the reported levels of physical inactivity, unhealthy diet, smoking, and unhealthy weight each explained between 11.3% and 21.6% of the association between education and risk for colorectal cancer, and between 8.6% and 15.3% of the association between neighborhood status and risk for colorectal cancer. Diet was found to have the biggest impact of all the health behaviors.

Overall, the combination of health behaviors and body mass index (BMI) explained approximately 43.9% (95% confidence interval [CI], 35.1% to 57.9%) of the association between risk for colorectal cancer and education and 36.2% (95% CI, 28.0% to 51.2%) of the association between the risk and neighborhood socioeconomic status.

In short, somewhere between one third and nearly one half of colorectal cancers among either low-income or less-than-high-school-educated Americans might be attributable to obesity and unhealthy behaviors.

However, a pair of experts not involved with the study do not find these results to be a cause for despair.

Instead, the study “demonstrates the intricate interplay” of socioeconomic and behavioral factors affecting colorectal cancer risk, write John Z. Ayanian, MD, and John M. Carethers, MD, in an accompanying editorial. Dr. Ayanian is from the Department of Health Care Policy at Harvard Medical School in Boston, Massachusetts, and Dr. Carethers is from the Department of Internal Medicine at the University of Michigan in Ann Arbor.

Public health practitioners can learn from these results, they believe. The study “underscores the need for more effective public health strategies to improve nutrition and physical activity in the United States and thereby curb the rising tide of obesity, particularly for those with less education and in disadvantaged communities,” the editorialists write.

Colon Cancer by Location

The study accounted for the anatomic location of the participants’ cancers (proximal colon, distal colon, or rectum), which resulted in one of the study’s “key findings,” according to the editorialists.

The health behaviors and BMI explained 95% of the association between education and the incidence of proximal colon cancer, but only 38% of the association between education and distal cancer and 24% of that between education and rectal cancer, Dr. Ayanian and Dr. Carethers point out.

That is a dramatic difference, they note. However, the editorialists think that these contrasting results for proximal and more distal cancers might “reflect the impact of an important omitted variable — colorectal cancer screening by socioeconomic status.”

Colorectal cancer screening has been shown to be more effective in reducing cancer incidence and mortality in the distal colon and rectum than in the proximal colon, the editorialists explain. Thus, this finding might have an easy explanation, they note.

“Because adults who are less educated and from less affluent communities are less likely to be screened, the greater effectiveness of screening for distal colorectal cancer may explain why socioeconomic gradients were much steeper for these anatomic sites than for proximal cancer,” they write.

The study was funded in part by the National Cancer Institute. The study authors and editorialists have disclosed no relevant financial relationships.

Logo of the United States National Cancer Inst...

Logo of the United States National Cancer Institute, part of the National Institutes of Health. (Photo credit: Wikipedia)

J Natl Cancer Inst. Published online September 5, 2012. Abstract, Editorial


Colon and Rectal Cancer: Single Cancer Type – TCGA


Colon and Rectal Cancer: Single Cancer Type – TCGA

Logo of the United States National Cancer Inst...

Logo of the United States National Cancer Institute, part of the National Institutes of Health. (Photo credit: Wikipedia)

TCGA Study Shows Colon and Rectal Tumors Constitute a Single Type of Cancer

The Cancer Genome Atlas generates genomic data for colon and rectal cancers that point to potential targets for treatment

Figure: Translocations involving chromosome 1 in a set of colon and rectal samples. The locations of the breakpoints leading to the translocation and circular representations of all rearrangements in tumors with a fusion are shown. The red line lines represent fusions, black lines indicate other rearrangements.

The pattern of genomic alterations in colon and rectal tissues is the same regardless of anatomic location or origin within the colon or the rectum, leading researchers to conclude that these two cancer types can be grouped as one, according to The Cancer Genome Atlas (TCGA) project’s large-scale study of colon and rectal cancer tissue specimens.

In multiple types of genomic analyses, colon and rectal cancer results were nearly indistinguishable. Initially, the TCGA Research Network studied colon tumors as distinct from rectal tumors.

“This finding of the true genetic nature of colon and rectal cancers is an important achievement in our quest to understand the foundations of this disease,” said NIH Director Francis S. Collins, M.D., Ph.D. “The data and knowledge gained here have the potential to change the way we diagnose and treat certain cancers.”

The study also found several of the recurrent genetic errors that contribute to colorectal cancer. The study, funded by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health, was published online in the July 19, 2012, issue of the journal Nature.

There is a known negative association between aggressiveness of colorectal tumors and the phenomenon of hypermutation, in which the rate of genetic mutation is abnormally high because normal DNA repair mechanisms are disrupted.  In this study, 16 percent of the specimens were found to be hypermutated. Three-fourths of these cases exhibited microsatellite instability (MSI), which often is an indicator for better prognosis. Microsatellites are repetitive sections of DNA in the genome. If mutations occur in the genes responsible for maintaining those regions of the genome, the microsatellites may become longer or shorter; this is called MSI.

NCI estimates that more than 143,000 people in the United States will be diagnosed with colorectal cancer and that 51,500 are likely to die from the disease in 2012. Colorectal cancer is the fourth most common cancer in men, after non-melanoma skin, prostate and lung cancer. It is also the fourth most common cancer in women, after non-melanoma skin, breast and lung cancer.

The researchers observed that in the 224 colorectal cancer specimens examined, 24 genes were mutated in a significant numbers of cases.  In addition to genes found through prior research efforts (e.g., APC, ARID1A, FAM123B/WTX, TP53, SMAD4, PIK3CA and KRAS), the scientists identified other genes (ARID1A, SOX9 and FAM123B/WTX) as potential drivers of this cancer when mutated. It is only through a study of this scale that these three genes could be implicated in this disease.

“While it may take years to translate this foundational genetic data on colorectal cancers into new therapeutic strategies and surveillance methods, this genetic information unquestionably will be the springboard for determining what will be useful clinically against colorectal cancers,” said Harold E. Varmus, M.D., NCI director.

The research network also identified the genes ERBB2 and IGF2 as mutated or overexpressed in colorectal cancer and as potential drug targets. These genes are involved in regulating cell proliferation and were observed to be frequently overexpressed in colorectal tumors.  This finding points to a potential drug therapy strategy in which inhibition of the products of these genes would slow progression of the cancer.

A key part of this study was the analysis of signaling pathways. Signaling pathways control gene activity during cell development and regulate the interactions between cells as they form organs or tissues. Among other findings, the TCGA Research Network identified new mutations in a particular signaling cascade called the WNT pathway.  According to the researchers, this finding will improve development of WNT signaling inhibitors, which show initial promise as a class of drugs that could benefit colorectal cancer patients.

In addition to examining the WNT pathway, the investigators also identified RTK/RAS and AKT-PI3K as pathways that are altered in a substantial set of colorectal tumors, which may show promise for targeting therapies for colorectal cancer. Because of these findings, drug developers may now be able to narrow their scope of investigation with an expectation of producing more focused therapeutic approaches, noted the researchers.

“It takes a critical group of researchers to conduct research at this scale and of this quality,” said Eric. D. Green, M.D., Ph.D., NHGRI director. “This study is among the most comprehensive of its kind to date and vividly illustrates how TCGA data sets can shed new light on fundamental properties of human cancers.”


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