genetic testing Archives - NFCR

genetic testing

9 Must-Know Facts About Colorectal Cancer

Colorectal cancer (cancer of the colon and rectum) continues to affect millions of men and women worldwide, and understanding the disease and what we can do to prevent it is the first step toward a cure.

Quick stats:

  • Colorectal cancer is the third most common cancer diagnosed in both men and women in the U.S.
  • Although the death rate from colorectal cancer has been dropping for the past 30 years, it is still the second leading cause of cancer death in the U.S.
  • The overall lifetime risk of developing colorectal cancer is: 1 in 21 for men and 1 in 23 for women.[i]
  • There are currently more than one million colorectal cancer survivors in the U.S.[ii]

Here’s a list of nine facts you need to know about colorectal cancer. And make sure you read about related work by NFCR-funded scientists Dr. Wei Zhang, Dr. Daniel Von Hoff, Dr. Laurence Hurley and Dr. Yung-Chi Cheng.

1. With regular screenings, colorectal cancer is preventable.

Colorectal cancer screening saves lives. In many cases, a screening can prevent colorectal cancer by finding and removing polyps before they turn into cancer. Screening also helps find colorectal cancer at an early stage, when treatment is most effective.

Studies show that regular screening could prevent 1/3 of colorectal cancer deaths in the U.S. The five-year survival rate is 90% if detected early.[iii]

2. Age is the #1 risk factor for colorectal cancer.

90% of colorectal cancer cases appear in men and women 50 years old or older, and the risk for developing this cancer increases with age. Yet, like most disease trends, this isn’t absolute – younger people can get colorectal cancer too.

3. There are warning signs, but not EARLY warning signs.

Like lung cancer and cervical cancer, colorectal cancer can be hard to detect in its earliest stage. Symptoms can include a change in bowel habits; blood in the stool; diarrhea, constipation or feeling that the bowel does not empty all the way; frequent gas pains, bloating, fullness or cramps; weight loss for no known reason; nausea, tiredness and vomiting.[iv] If you experience any of these symptoms, contact your doctor right away.

4. Lifestyle choices impact colorectal cancer risk.

Many lifestyle-related factors are directly linked to colorectal cancer risk. Obesity not only increases your risk of having colorectal cancer by 30%,[v] but it also increases the likelihood of poor treatment outcomes and complications.[vi] Smoking also increases your risk of developing and dying from this type of cancer. One recent study reported that patients with colon cancer who smoke were 14% more likely to die from their colon cancer within five years than patients who had never smoked.[vii]

Other risk factors include heavy alcohol use, lack of exercise and diets high in red and processed meats. Additionally, cooking meats at a very high temperature can create chemicals on your food that may increase your cancer risk.

5. Family history matters.

People with a first-degree relative (parent, sibling, offspring) who has colorectal cancer have two to three times risk of developing this disease.[viii] A personal or family history of polyps (adenomas) also puts you at higher risk – especially if the polyps are large or if there are many of them.

6. Health conditions can increase your risk.

Your risk of colorectal cancer increases if you have the following conditions: Type 2 diabetes; inflammatory bowel disease (IBD), including either ulcerative colitis or Crohn’s disease; and having an inherited syndrome like Familial adenomatous polyposis (FAP) or Lynch Syndrome.[ix]

7. Regular colorectal cancer screenings typically begin at age 50.

Because polyps tend to be seen most often in people 50 years of age and older, experts recommend universal screening for colorectal cancer beginning at this age. If you are under 50 and have a family history of colorectal cancer or other risk factors, talk to your doctor about when you should start regular screening.

8. There are different screening options.

Screening tests can include: colonoscopy; sigmoidoscopy; barium enema; CT colonography or virtual colonoscopy; and at-home tests like the fecal occult blood test, fecal immune testing or stool gene testing.[x] Talk to your doctor to see what screenings are most appropriate for you given your family history, age and lifestyle choices. For more information on cancer screenings, please refer to our.

9. Research helps us attack colorectal cancer – and all types of cancer.

NFCR has distinguished itself from other organizations by emphasizing long-term, transformative research that has the potential to save lives. Our scientists are conducting a wide range of cutting-edge research focused on improving diagnosis and treatment of colorectal cancer – and all types of cancer.

Studying the system of genes that form colorectal cancer

NFCR Fellow Dr. Wei Zhang

NFCR-funded scientist, Dr. Wei Zhang, is the Director of the Wake Forest Baptist Comprehensive Cancer Center’s Precision Oncology Initiative. Dr. Zhang has vast experience identifying biomarkers and genes in colorectal cancer. His current research team is studying how gene expression, gene amplification and mutations relate to and regulate each other. Using data from next-generation sequencing, Dr. Zhang’s team is identifying the genetic drivers or growth-promoting genes of a patient’s cancer.

Dr. Zhang has previously identified microRNAs (miRNAs) as biomarkers to improve colorectal cancer prognosis and predict treatment response. He used blood samples from healthy donors and patients with stage I through IV colorectal cancer, and confirmed that one microRNA molecule – miR-141 – may predict the outcome for stage IV colorectal cancer patients.

Chinese herbal medicine curbs colorectal cancer treatment side effects

NFCR Fellow Dr. Yung-Chi Cheng

For approximately 20 years, with NFCR support, Dr. Yung-Chi Cheng, of Yale University’s School of Medicine, has explored the therapeutic properties of PHY906, a Chinese herbal medicine formula. Dr. Cheng and his laboratory team have discovered that cancer treatment with PHY906, combined with chemotherapy, alleviates
the unpleasant gastrointestinal side effects of chemotherapy for colon and rectal cancer patients. Moreover, their research demonstrated that PHY906 also has its own, solo anti-tumor attributes. If there is continued success in clinical trials, PHY906 could become one of the first FDA-approved oral herbal medicines for anti-cancer treatment.

Targeted drug treatment and key colorectal cancer gene

(Left to Right) NFCR Center for Targeted Cancer Therapies Co-Directors Dr. Daniel Von Hoff and Dr. Laurence Hurley

The c-Myc gene is a cancer-causing gene (or oncogene) that is amplified in colorectal cancer and is a tough molecule in terms of finding targets for drug development. NFCR-sponsored scientists Dr. Daniel Von Hoff and Dr. Laurence Hurley are creating drugs to block large clusters of DNA called “super enhancers,” which control the expression of a network of genes – including the critical and seemingly-undruggable c-Myc gene.

Shutting down colorectal cancer through the blood stream

Dr. Harold F. Dvorak

Dr. Harold Dvorak received funding from NFCR for over 30 year and is responsible for the discovery of the vascular endothelial growth factor (VEGF). His discovery fostered the entire field of vascular biology and led to the development of VEGF-targeting anti-angiogenic drugs. Unlike other anti-cancer drugs that aim to directly kill tumor cells, drugs that target VEGF cut off the blood supply that tumors need to survive.
In 2004, the VEGF-targeting drug Avastin® was approved by the FDA for the treatment of colorectal cancer. More than 280 clinical trials are currently investigating the use of Avastin® in over 50 tumor types.











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NFCR’s Genomics Newsroom: Using Molecular Imaging to Guide Cancer Therapy

What is “genomics”?

Cancer develops when genetic material (DNA) becomes damaged or changed. We know some cancer- causing genetic changes are acquired (i.e. smoking), while others are inherited. Studying cancer genomics explores the differences between cancer cells and normal cells. Advances in understanding how cancer behaves at the genomic and molecular level are helping oncologists treat cancer with greater success. This is the key to precision medicine, treating each individual’s cancer as unique.

Guiding Cancer Therapy Using Molecular Imaging

Molecular-genetic imaging (also known as molecular imaging) combines conventional anatomic imaging (MRI, CT, PET or ultrasound) with genomic testing and enables doctors to literally see cancer at its molecular or genetic level. Because of this, molecular imaging has the potential to characterize the genotype and phenotype of cancer as well as predict response rates and likely outcomes to selected treatments… all without the need for tissue samples that would be obtained through surgery or biopsy.

Molecular imaging is emerging as yet another tool doctors can use to help choose the most effective treatment(s) for individual patients.  With molecular imaging, doctors can provide more personalized, effective treatments to their patients.

Genomic Testing

While traditional methods treat cancer based on the body part where the cancer first originated, genomic testing looks at cancer on the gene level. Genomic testing reveals the unique genomic drivers or the driver genes for each patient’s cancer.

When combined with the molecular imaging technology, deeper and more detailed information that is specific to an individual cancer patient could be obtained and analyzed by the oncologists, which empowers them to design optimal, individualized therapies to maximize treatment success.

Click here to learn more about genomic testing.

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NFCR’s Genomics Newsroom: Discovery of New Lung Cancer Mutation

What is “genomics”?

Cancer develops when genetic material (DNA) becomes damaged or changed. We know some cancer causing genetic changes are acquired (i.e. smoking), while others are inherited. Studying cancer genomics explores the differences between cancer cells and normal host cells. Advances in understanding how cancer behaves at a genomic and molecular level is helping doctors treat cancer “smarter”.

More Treatment Options for NSCLC Patients with ROS1+ Gene Mutation

lung-cancer-blogIn March 2016, the U.S. Food and Drug Administration approved the first and only drug – crizotinib (also known as Xaldori) – to treat people with advanced (metastatic) non-small cell lung cancer (NSCLC) whose tumors express the ROS1+ mutation. For NSCLC patients with ROS1+ mutation, crizotinib has stopped the growth and spread of their cancer.

Researchers at University of Colorado Cancer Center have uncovered what they believe to be the cause of this drug resistance: A mutation in the KIT gene, as well as a potential solution. Initial studies show that introducing the drug ponatinib to the treatment regimen may reverse drug resistance, allowing patients to reap the benefits of crizotinib for a longer period of time.

Although further research is needed, this is an important milestone for patients with ROS1+ NSCLC who previously had limited treatment options.

Genomic Testing

While traditional methods treat cancer based on the body part where the cancer first originated, genomic testing looks at cancer on the molecular level.

Genomic testing reveals the unique genomic drivers for each patient’s cancer. This empowers oncologists to design optimal, individualized therapies to maximize treatment success.

To find out if your cancer has ROS1+ or KIT gene mutation, learn more about genomic testing and ask your doctor if it’s right for you.

Related NFCR-Funded Research

A team lead by Dr. Alice Shaw, an NFCR-supported scientist at Massachusetts General Hospital, is developing a new platform that can rapidly identify effective drug combinations for lung cancer patients whose tumors have stopped responding to targeted therapy. The team is growing cells in the laboratory that were taken directly from the patients’ cancer and treating them with a host of different drug combinations to find the ones that work. Dr. Shaw says “this strategy might be used to select the optimal treatment for each individual patient, and could also be applied to other types of cancer.”

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National Foundation for Cancer Research and KEW, Inc. announce a collaboration

National Foundation for Cancer Research and KEW, Inc. announce a collaboration to increase awareness of the value of genetic testing.

photo Tuan Ha-Ngoc, KEW & Franklin Salisbury NFCRBig Data comes to Cancer Care Choices.  #Research4aCure

BETHESDA, Maryland (June 8, 2016)  – The National Foundation for Cancer Research (NFCR) and Kew, Inc, a private oncology services company based in Cambridge, Massachusetts , announced today they will jointly work to increase the awareness of the clinical benefits of genetic testing to cancer patients and oncologists.  Precision medicine moves information faster to where the patient decisions are made, thereby potentially improving options, quality of care and potential outcomes as well.

The genetic testing technology, including Next-Gen Sequencing (NGS) on comprehensive and specific gene panels, is able to identify patient-specific drug targets and cancer-driving molecular pathways. Guided by the genetic testing results, oncologists can prescribe personalized and targeted cancer therapies to their patients.

With numerous new drugs that target specific cancer mutations in clinical trials, the ability to share information widely becomes an increasingly burdensome task. NFCR and KEW are teaming up to launch programs that aim to increase the awareness of the value of genetic testing, educate patients, family members and oncologists about the clinical benefits of testing and guide them through the seemingly complex clinical process in a much easier manner.

Raju Kucherlapati, MD, Paul C. Cabot Professor of Genetics and Professor of Medicine, Harvard Medical School and co-founder of KEW, spoke of the goal of “helping doctors everywhere, treat cancer patients anywhere.” “We are dedicated to empowering oncologists to make the right therapy decision for patients by providing actionable, patient-specific information derived from our genetic testing”, said Dr. Kucherlapati.

“KEW’s genetic testing technology and capability in bioinformatics will help to integrate data accumulated from various research and clinical sources into treatment options and cancer care choices, which is highly beneficial to cancer patients and in keeping with NFCR’s long valued efforts in sharing information among scientists, physicians and patients,” said NFCR Chief Science Officer, Michael Wang, MD, PhD.

Public outreach and education is one of the core missions of NFCR’s programs. For more than 43 years, NFCR has been supporting cancer research laboratories and then sharing results with oncologists, patients, and general public worldwide. Many of the NFCR-funded scientists have contributed to developing the foundation of today’s personalized targeted therapies and precision medicine.

NFCR welcomes KEW’s support of the education and communication facet of its mission. Together both organizations can help raise awareness of new options in cancer treatment.

NFCR is a convener and one of the early funders of applying genetic testing technology, including Next-Gen Sequencing (NGS) to clinical applications to guide personalized treatment for patients. With today’s internet speed of access, NFCR is taking fast actions to promote collaboration and information-sharing. NFCR is dedicated to supporting “high risk/high reward” cancer research and public education relating to prevention, early diagnosis, better treatments and, ultimately, a cure for all types of cancer.

For more information:; 301-654-1250

KEW, Inc. provides comprehensive genomic testing services that enable oncologists to make evidence-driven personalized treatment decisions for cancer patients. Based out of Cambridge, MA, KEW was founded by pioneers of the precision medicine industry, including key contributors to the Human Genome and The Cancer Genome Atlas projects. The CANCERPLEX® suite of products offers flexible panel sizes, the largest of which sequences 400+ cancer genes in solid tumors that are the most relevant to oncology patient care. Specialized panels offer the option to test based on the site of a patient’s tumor or to limit results to FDA-approved therapies. CANCERPLEX not only makes personalized medicine more accessible, it delivers the promise of precision medicine for all.

For more information:; 617-229-5954

KEW, Inc.
Mark D. Myslinski
Keith Spiro

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