By Parker Lynch

According to the Mayo Clinic, cystic fibrosis (CF) is a disorder in which there is severe damage to the lungs and other organs in the body. This condition presents itself differently in each patient when comparing manifestations of symptoms; however, wheezing, difficulty breathing, exercise intolerance, constant lung infections, and recurrent sinusitis are all very common among individuals with CF. People with cystic fibrosis are very strong and admirable, as their condition can be very arduous in terms of treatment and monitoring: the need for consistent medication (bronchodilators, mucus thinners), using special devices and techniques to assist with breathing, monitoring what they eat, etc. 

Though it seems like CF and colorectal cancer (CRC) wouldn’t even be remotely related, adults with CF actually have a 5-10 times higher risk of developing CRC as opposed to adults without CF. On top of this, individuals with CF who receive lung transplants (or any other solid organ transplant, for that matter) are 20 times more likely to develop CRC, which requires them to complete their preventative screenings at the age of thirty rather than the standardly-recommended age of forty-five.

You can read about a CF patient’s experience with her surprise diagnosis of CRC. 

Where is This Connection Coming From?

As with any other condition or diagnosis, researchers aren’t completely certain of what the singular cause is of a CF patient’s higher chance of developing CRC. However, it is believed that mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene may have a role to play. Mutation in the CFTR gene not only leads to the development of CF, but can also lead to the development of CRC, though more research needs to be done on this topic to be able to analyze the strength of the correlation between the two. 

Moving Forward With This Information

Patients with CF are recommended to receive regular colonoscopies beginning at the age of 40 (which is five years younger than typically recommended among the adult population). Those who have received lung transplants are recommended to get their screenings at the age of 30, due to the aforementioned risks that come with organ transplantation and CRC development. 

Outside of preventative screenings, monitoring CF and CRC requires collaborative efforts among different healthcare providers as well as the individual themselves. The important factor here is that CF patients are made aware of their increased risk of getting CRC, and have a support system in navigating appointments, physician communication, screenings, etc. 

Monitoring one condition alone is extremely stressful and taxing on an individual, let alone having to deal with two. The American Cancer Society has a list of psychosocial resources for individuals who need support with navigating their healthcare, while also helping provide financial assistance, individual therapy, and group therapy. Health concerns are never easy to deal with, and it is always okay to reach out for help. 

 

Parker Lynch is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

Image credit: Gordon Johnson from Pixabay

By Alexa Kanbergs, MD-ScM, MS

What is IGNITE-TX?

Have you been diagnosed with Lynch Syndrome or a BRCA1 or BRCA2 genetic mutation? Do you have family members who have not yet undergone genetic testing? If yes, then this study may be for you! The IGNITE-TX study explores ways to increase genetic testing for family members of those diagnosed with Lynch Syndrome or a BRCA1 or BRCA2 genetic mutation. This is also known as cascade genetic testing.

What the Study Involves

Individuals eligible for the study will be granted access to the IGNITE-TX website. The website contains information about their genetic mutation and how to share information with family members. Participants and their family members will be placed at random into four groups:

  • Group 1: Standard of care, which is receiving a letter with information on their specific hereditary cancer syndrome that they can share with their relatives
  • Group 2: Free genetic counseling and testing
  • Group 3: The IGNITE-TX intervention, which gives family members access to the website and education modules as well as access to a study navigator
  • Group 4: The IGNITE-TX intervention and free genetic counseling and testing.

All participants (including family members enrolled in the study) will be asked to complete a baseline survey and then follow-up surveys at 6 and 12 months. Participants will receive a $10 gift card after completion of each survey.

Why Should I Enroll? 

There are good reasons to join the IGNITE-TX Study. First, you get to help others. By joining, you can help test your family members, and it also helps us learn better ways to conduct genetic testing for people whose family has a history of cancer. Additionally, everyone who takes part in the study will be compensated for their time.

How Do I Know if I am Eligible to Enroll?

You are eligible to participate in this trial if:

  • You are 18 years of age or older
  • You or your family member has a positive genetic test result  for the BRCA1/BRCA2 mutation or Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM mutation)
  • You have an email address and/or a U.S. cell phone number
  • You speak English or Spanish

You are not eligible to participate if:

  • You do not have any relatives
  • You do not have one of the genetic conditions listed above or only have been told you have a variant of uncertain significance

Study Locations

We are targeting enrolling patients throughout the U.S.

Study Contact Information

J. Alejandro Rauh-Hain, PI

Heidy Bosch Study Coordinator

Study specific contact information: Ignitiestudy@mdanderson.org, Phone: 713 792 9155

 

Clinicaltrials.gov identifier:

NCT05677048 (https://clinicaltrials.gov/show/NCT05677048)

 

Alexa Kanbergs, MD-ScM, MS, is a Gynecologic Oncology Fellow, MD Anderson Cancer Center.

Photo credit: Rajiv Perera on Unsplash

By Emmanuel Olaniyan

Colorectal cancer (CRC) is one of the more common types of cancer and is the third largest cause of cancer-related deaths worldwide. According to the American Cancer Society, 153,020 new cases of CRC are expected to be detected throughout the U.S. in 2023, out of which 52,550 people will die from the disease. Considering these figures, it is important to raise public awareness about CRC in order to decrease the number of CRC-related deaths and new cases.

Several studies have researched the causes of CRC, and age, diet, genetics, and the gut microbiota have all been identified as risk factors in various ways. The gut microbiome, in particular, has been shown to play an important role in a number of diseases, and research has begun to focus heavily on its role in CRC. 

What is the Gut Microbiome?

The human gut microbiota refers to the trillions of microbes, such as bacteria, viruses, fungi, and others present in the human digestive tract. The microbiome is the environment they live in. Most microbes in the body are beneficial, but they may become harmful when out of balance.

The gut microbiota is crucial for the overall functioning of a healthy digestive system because it supports the absorption of energy from digested food, guards against pathogens, controls immunological response, and fortifies biochemical barriers of the intestine. However, when harmful bacteria enter the gastrointestinal tract through eating contaminated food or drinking contaminated water and cause infection, all of these advantageous activities could be disrupted.

Jaeho Kim and Heung Kyu Lee published a study in 2022 that found a strong association between gut microbiota and CRC. They came to the conclusion that the patients with CRC experienced dysbiosis (an imbalance in bacterial composition, changes in bacterial metabolic activities, or changes in bacteria distribution within the gut) more frequently than healthy individuals. Opportunistic infections were discovered to be more prevalent, and intestinal inflammation has been shown to be reduced along with the percentage of bacteria that produce butyrate, which is an essential component of our digestive system that reduces inflammation in the digestive tract, protects the brain and prevents cancer.

How Can We Maintain a Healthy Gut Microbiome?

Maintaining good hygiene and being mindful of the foods we eat can help keep our gut microbiota healthy. Studies have shown that eating more processed foods and a low intake of dietary fiber increase the risk of CRC. For this reason, it is recommended to consume fermented foods like cheese, soy sauce, vinegar, and yogurt as well as meals high in fiber like whole grains. It has been established that the bacteria present in these fermented foods are similar to those linked to gastrointestinal health. 

Finally, a decrease in processed food consumption and antibiotic use lowers the risk of developing CRC caused by gut microbes. 

 

Emmanuel Olaniyan is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

Image source: OpenClipart-Vectors from Pixabay

The benefits of exercise for overall health and disease prevention are well known. While research overwhelmingly points to physical activity as a protective factor against colorectal cancer, more research is necessary to delineate how the timing of physical activity during one’s life impacts the risk of developing colon cancer. In a recently published study, researchers examined the differences in colon cancer incidence in relation to levels of physical activity at different stages of life. 

Researchers conducted a baseline survey in 1995 and 1996 of adult men and women to measure exposures to moderate-to-vigorous physical activity (MVPA) and several other lifestyle-related factors among nearly 300,000 adults (50-71 years). Study follow-ups ceased in 2011 or following any diagnosis of colon cancer or death. 

In the primary exposure assessment, participants were asked to report and quantify MVPA they had participated in at various stages of their life: at ages 15-18, 19-29, 30-35, and in the previous decade. MVPA levels were measured by time:

  • Rarely or none
  • Less than 1 hour a week
  • 1-3 hours a week
  • 4-7 hours a week
  • Greater than 7 hours per week 

Pattern Recognition and Impact on Colon Cancer Risk

Researchers identified specific patterns of MVPA:

  • Maintaining the same general level of physical activity throughout the life course (whether low, moderate, or high levels of MVPA) 
  • Raising levels of physical activity during the life course, either earlier or later in life (increasers) 
  • Reducing the amount of MVPA over time, either earlier or later in life (decreasers) 

Several key findings emerged from these patterns: 

  • Participants who maintained high MVPA levels throughout their life had a 15% lower risk of colon cancer than those who maintained low MVPA levels throughout their life
  • Participants who increased MVPA levels at a younger age had a 10% reduced risk of colon cancer, and participants who increased MVPA levels at an older age had an 8% reduced risk of colon cancer
  • Decreasing MVPA levels during the life course resulted in a 12% higher risk of colon cancer incidence when compared with individuals who maintained low MVPA levels throughout their life

These findings suggest that individuals who consistently engage in MVPA throughout their life and those who increase MVPA levels during their life have a lower risk of being diagnosed with colon cancer. They provide hope to individuals who may begin their fitness journey later in life. 

Emma Edwards is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

Biomarkers allow scientists to identify certain diseases from a simple biological sample like urine, breath, or even feces. Volatile organic compounds (VOCs) are the byproducts of metabolic processes associated with cancer, necrosis, or other metabolic changes. Scientists have now identified a new biomarker associated with both colorectal cancer (CRC) and adenoma (noncancerous tumor) that can be used for detection.

The cross-sectional study included 24 newly diagnosed CRC patients, 24 patients with adenomas, and 32 individuals who had a normal colonoscopy between July 2017 and July 2020. Individuals with normal colonoscopies and those with adenomas had fecal samples collected before and after their colonoscopy. Samples were requested from CRC patients 3-4 weeks after diagnosis and before treatment.

Of the 60 VOCs identified, only 3 showed different peaks between CRC and the control groups: p-cresol, 1H-indole, and 3(4H)-DBZ. There was a statistically significant difference between p-cresol peak values in each group with the greatest difference between CRC and the control group. This was also the same for 3(4H)-DBZ. However, 1H-indole did not have a significant difference between the study groups.

After adjusting for sex, age, and body-mass index (BMI), the researchers found that only CRC was associated with increased p-cresol and 3(4H)-DBZ, and p-cresol seemed to be the best possible predictor of CRC. A combination of p-cresol and 3(4H)-DBZ “is also optimistic as a combined biomarker” according to the study authors.

p-cresol was also abundant among patients with adenomas compared to healthy controls. This was also the case after adjusting for age, sex, and BMI.

Although more work needs to be done to determine what processes produce these VOCs, these associations can launch a new set of studies to confirm its use in a clinical setting. Other biomarkers have been identified that can  predict CRC occurrence and mortality. Overall, the ability to better detect CRC and precancerous adenomas play an important role in global prevention efforts. A better understanding of the biological processes involved in these diseases is crucial for those efforts to be successful.

 

Kaylinn Escobar is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

Photo credit: National Cancer Institute on Unsplash

Over 30% of patients with stage II or stage III colorectal cancer (CRC) and 60-70% of patients who undergo oligometastatic resection experience cancer recurrence. Stage II or III CRC is usually treated with surgery followed by adjuvant chemotherapy (ACT). However, patients with clinical and pathological risk factors only see a 10-15% decrease in cancer recurrence with standard ACT. 

Now, a new study proposes using circulating tumor DNA (ctDNA) as a predictive biomarker to guide chemotherapy treatment decisions in CRC patients. 

ctDNA is a minimally invasive biomarker that can help oncologists measure disease status and progression during cancer therapy, including the detection of molecular residual disease (MRD). In this study, researchers evaluated whether ctDNA following surgery could predict disease recurrence in early-stage CRC. 

The study enrolled 1,563 patients with:

  • Stage II or III CRC 
  • Surgically resectable stage IV CRC 
  • Recurrent CRC were prospectively enrolled in the study 

Blood samples were collected before and at predetermined time intervals after surgery (up to 18 months), and imaging was performed every six months until 18 months after surgery. MRD, defined as ctDNA positivity after surgery or therapy, is strongly associated with poor prognosis in patients with surgically resectable CRC. Of the 1,039 patients included in the ctDNA analysis, 18.0% were ctDNA positive four weeks after surgery.

Researchers discovered that patients with high-risk stage II, stage III, and stage IV CRC, who were ctDNA-positive four weeks after surgery, benefited from ACT. ctDNA was identified as the most significant risk factor for CRC recurrence in these patients, and ctDNA positivity is an important predictor of ACT benefit. 

Regardless of the pathological stage of CRC, patients with a higher risk of recurrence based on ctDNA status may benefit from ACT, while those with negative ctDNA status may be able to avoid unnecessary ACT. These findings can guide clinicians in making evidence-based treatment decisions for CRC patients.

 

Sahar Alam is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

Cancer screening remains a powerful tool. Even limited screening has long-term benefits compared to no screening  and can lower the risk of cancer and related deaths. A recent study by researchers at the CDC compared data on adults who reported they had not received a colorectal cancer (CRC) screening test between 2012 and 2020 using information from the Behavioral Risk Factor Surveillance System (BRFSS). The study identified various trends, most notably that 22 states did not meet the CDC’s Healthy People 2020 goal of 70.5% adults screened for CRC.

The sample was limited to adults aged 50 to 75 years, with up to date screenings defined as one of the following:

  • Home stool-blood test within the past year
  • Sigmoidoscopy within five years with fecal occult blood test or within one year with fecal immunochemical test
  • Colonoscopy within ten years

The ‘never screened’ numbers were a composite of those who answered no to being screened or those who were not up to date. Those who declined to answer or reported uncertainty were excluded. Overall, the study identified:

  • A 5.8% decrease in unscreened adults between 2012 and 2020 
  • States with the largest improvements were also those with the largest unscreened population in 2012 

 

Despite these improvements, CRC screening goals have yet to be met and may be difficult to meet with the new Healthy People 2030 standards. The target of 74.4% screened may have been a challenge to meet, possibly further exacerbated by the COVID-19 pandemic.

Researchers noted that including just two more questions on the BRFSS in 2020, the percentage of up to date screenings increased to 71.6%. These two questions enquired about:

  • Stool DNA testing
  • Computerized tomographic colonography

It is important to note that the National Colorectal Cancer Roundtable—a membership organization established by the CDC and the American Cancer Society—has set its goal to 80% screening rates across the country.

Study authors recognized recall bias and an inability to distinguish between screening versus diagnostic tests as major study limitations. Additionally, social desirability bias and a low response rate may have also affected the results. However, financial factors and health disparities may also describe the differences between states.

Following implementation of the Affordable Care Act, researchers at the American Cancer Society found that CRC screening among low-income adults across the U.S. increased by up to 8%, with the greatest increases observed in early Medicaid expansion states. They also noted that a majority of those who were never screened also lived in a state without expansion (South Dakota). 

Nonfinancial factors such as health disparities were studied in a mixed-methods analysis conducted at the Virginia Commonwealth University’s School of Medicine. Here, researchers noted that participants of gender-specific and race-specific focus groups brought forth nuanced concerns regarding screening. This included lack of awareness of both the disease and the screening, lack of physician recommendation that is clear and rational, and fear of being diagnosed and complications associated with testing. These concerns, if unaddressed, may limit others from seeking out CRC screening.

To read more about the Healthy People 2030 CRC screening standards and the current progress, visit Healthy People 2030.

 

Kaylinn Escobar is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation. 

As we emerge from the initial waves of COVID-19, patients may have been reluctant to take more time out of their life for a colonoscopy prep, procedure, and recovery. Fortunately, non-invasive stool-based screening tools, such as fecal immunochemical tests (FIT) and multi-target stool DNA (mt-sDNA or Cologuard), are practical options that allow patients to provide a sample in the comfort of their home and could address access and care gap issues as they are less expensive. 

According to a new study presented during the Scientific Forum at the American College of Surgeons Clinical Congress 2022, these non-invasive stool-based screening methods are equally effective for screening for early-stage colorectal cancer (CRC). Pavan K. Rao, MD, a general surgery resident at Allegheny Health Network in Pittsburgh, Pennsylvania, presented study results that evaluated 117,519 enrollees within the Highmark claims database who underwent CRC screening in 2019. The researchers found:

  • About 60% of patients taking either the fecal immunochemical test or the DNA test at home instead of having a routine colonoscopy had early-stage cancer, but a FIT detected it at one-fifth the cost. 
  • The total annual costs for the tests were $6.47 million—$1.1 million for a FIT (about $24 per test) and $5.6 million for mt-sDNA (about $121 per test). Costs were calculated using Medicare reimbursement rates.
  • Transitioning all non-invasive CRC screening to FIT would result in $3.9 million in savings annually in the study population. 

Similarly, these results support previous studies out of Japan and the Netherlands that found FIT was more cost-effective than other types of non-invasive CRC screening tests. This provides our healthcare system with an efficient alternative at a reduced cost that maintains patient outcomes without compromising the quality of care. 

Colorectal cancer (CRC) screening is a vital preventative method to detect and remove a polyp and to diagnose cancer before it advances to an incurable stage. CRC screening options include endoscopy and stool-based testing. Now a new study that surveyed unscreened individuals at average risk for CRC has found that people have a preference for the stool-based screening option. 

The third most diagnosed cancer in the U.S., over 5 million people worldwide currently live with CRC. One method of CRC screening is a colonoscopy, which detects swollen, abnormal tissues, polyps, or cancer in the large intestine (colon) and rectum. Another form of CRC screening is the fecal immunochemical test (FIT). FIT is one of the most widely used CRC screening methods globally and is an affordable screening tool for studying large populations. FIT detects hidden blood in stool, a potential early sign of cancer, and it has an overall 95% diagnostic accuracy for CRC. 

It is estimated that 106,180 new colon cancer cases and 44,850 new rectal cancer cases will be diagnosed in the U.S. in 2022. With the screening age for CRC for average-risk adults lowered to 45 years, we need a better understanding of what the various age groups may prefer as a screening option to improve compliance and screening rates. 

The new study that was published has found that individuals in the 40-49 age group and those ≥50 years prioritized test modality above effectiveness when choosing their screening test. The findings of this study demonstrate that:

  • Both 40-49-years-old and ≥50-year-old age groups preferred FIT-fecal DNA every three years
  • The second preferred test for both age groups was a colon video capsule, or capsule endoscopy, every five years 
  • Regarding only the USPSTF tier 1 tests, both age groups preferred an annual FIT over a colonoscopy every ten years
    • 68.9% of 40-49-year-olds and 77.4% of ≥50-year-old participants preferred an annual FIT

These results conflict with current CRC screening approaches in the U.S., where colonoscopy is the screening test customarily used. Furthermore, these findings prompt the modification of current CRC screening guidelines and suggest that healthcare providers consider sequential-based screening procedures where FIT is offered before colonoscopy. The results, however, are consistent with a 2007 study, which supports the effectiveness of providing FIT before colonoscopy—the percentage of patients that were up-to-date with screening increased by almost 50% between 2000 and 2015 when they were offered direct-to-patient annual FIT outreach with colonoscopy. 

Scheduling delays and longer waiting times for colonoscopies have increased as millions of newly eligible individuals need a colonoscopy, all of which can strain resources and delay access and early screening for patients, especially for those at greater risk for CRC. Sequential approaches for CRC screening, such as those that offer FIT before colonoscopy, can help acknowledge and adjust to the increased need for screening and the lack of resources and help prioritize access to colonoscopy for those at greater risk for CRC.

 

Sahar Alam is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.

A new study published in the New England Journal of Medicine has sparked controversy—this 10-year study involving nearly 85,000 participants in Europe highlighted that colonoscopies cut the risk of colorectal cancer (CRC) only by about a fifth, far below estimates from earlier scientific studies, and didn’t substantially reduce deaths, raising the possibility that the invasive procedure is not worth it. Doctors in the U.S. are now concerned that the study’s results could cause doubt about the effectiveness of a colonoscopy, which is a recommended CRC screening approach for those 45 and older, to be conducted once in ten years. Despite the confusion about the effectiveness of colonoscopies, national news articles and gastroenterologists in the U.S. have rebuked these conclusions. 

A major limitation that experts found with the study was that only 42% of the people who were invited to get a colonoscopy actually had one. However, researchers still reported the outcomes for the entire cohort, regardless of whether or not they underwent a colonoscopy. The study found that of those who were invited to have a colonoscopy—whether they got it or not—there was an 18% reduction in developing the disease and no statistically significant reduction in the likelihood of CRC death. Many don’t believe that this is representative of what happens in the U.S., where colonoscopy is more widely accepted as a standard screening protocol compared to European countries, and was a serious shortcoming of the study. In fact, when the individuals who did not get a colonoscopy were removed from the study, the risk of developing CRC among those who did get a colonoscopy reduced by an estimated 31% and the risk of death reduced by about 50%.

As Robin Mendelsohn, MD, co-director of the Center for Young Onset Colorectal and Gastrointestinal Cancers at the Memorial Sloan Kettering Cancer Center, argues “in order for a colonoscopy to be effective, you have to have it done”.

Andrew Albert, MD, a member of the Colon Cancer Foundation (CCF)’s Interdisciplinary Medical Advisory Council (IMAC), said, “While the NordICC trial demonstrates the need for challenging the status quo related to colonoscopy, this remains an effective screening tool, particularly for individuals at average risk who may be on the fence about going in for screening. Misinformation is dangerous, especially in healthcare. If we miss catching colorectal cancer at an early stage—which is what a colonoscopy is very good at—it can have a big impact on survival. We need to remember that CRC is preventable, and treatable when caught early.”

IMAC member Matthew A. Weissman, MD, MBA, FAAP, told CCF, “I hope that the findings of this study, which have been taken out of context by many, will not discourage folks from getting screened for colon cancer by colonoscopy or other appropriate methods, which is extremely important in early detection (and prevention) of this deadly disease.”

In an accompanying editorial in the same issue, experts point to the need for a longer follow-up time for the impact of screening colonoscopy to be realized. They also point out that the skill of the endoscopist conducting the procedure has a significant impact on the detection rate—29% of endoscopists in the trial had an adenoma detection rate below the recommended 25%. 

Consequent to this study, the American Society for Gastrointestinal Endoscopy (ASGE) issued a public statement that colonoscopy remains the best and most proven way to detect and prevent CRC incidence and death. The American Cancer Society also weighed in on the study, pointing to the high number of participants who didn’t undergo the procedure. Adam Lessne, MD, a gastroenterologist at Gastro Health in Florida told VeryWell Health that “when you take away the limitations, it’s proven again that colonoscopies do save lives and they do reduce the risk of death.” 

The bottom line is that a screening test of any kind—stool-based or colonoscopy—is better than none, and CRC is preventable with regular screening. For detailed information on various CRC screening methods and current screening guidelines, visit this page on the Colon Cancer Foundation’s website. 

 

Kitty Chiu is a Colorectal Cancer Prevention Intern with the Colon Cancer Foundation.