CFTR Gene Mutations

• While mutations of the CFTR gene are known to cause cystic fibrosis, the CFTR gene also plays a role in tumor suppression, helping to regulate cell growth and division. For individuals with CF—in addition to CF carriers—the CFTR gene is unable to function optimally due to mutations. In turn, there is an increased likelihood of abnormal cell reproduction and cancer development.  

Chronic Inflammation

• People with CF often face long-term inflammation because their body is fighting infections. Over time, this inflammation can damage DNA and affect how cells grow and divide, raising the risk of cancer.  

Immunosuppressive Medications  

• People with CF who have undergone a transplant often take immunosuppression drugs to prevent organ rejection. While an important component of transplantation, these medications can make it easier for cancer to develop.  

Cancer has been shown to occur at a younger age among people with CF than the general population. Screening recommendations vary depending on type of cancer and other risk factors, such as transplantation.  

Never hesitate to advocate for early screening. Regular screenings, like mammograms, pap smears, colonoscopies, and screenings for skin cancer can detect abnormalities early when they are easier to treat, saving lives and improving health outcomes. Even if you do not have any known cancer symptoms, speaking to healthcare professionals about the increased risk and incidence of cancer for people with CF is vitally important.  

Flyers & Infographics

• Cancer & CF Awareness Flyer
• Concientización sobre la fibrosis quística y el cáncer
• Colon Cancer Patient Information & Advocacy Flyer
• Cáncer de colon y fibrosis quística 

Podcasts & Videos

• Colon Cancer and CF – Panel [Video]
• Demystifying the Colonoscopy Process – Jeffrey King, MD [Video]
• Colon Cancer Awareness PSA: Part 1 & Part 2 [Video]
• Embracing the Future: CF & Colon Cancer [Video]
• Colonoscopies Save Lives: An Update from Anna Payne [Video]
• Understanding Gastrointestinal Cancers in Cystic Fibrosis [Video]
• Tips for Improving the Colonoscopy Prep Experience [Video] 
• Skin Cancer 101: Jennifer Wang, MD [Video]

Written Content

• Anna Payne’s Colon Cancer Story 
• 2022 Spring Newsletter: Do you have CF? A Colonoscopy Can Save Your Life
• 2017 Summer Newsletter: Colon Cancer Screening in CF 

Gastrointestinal (GI) cancer develops when malignant (cancerous) cells develop along the GI tract. This tract extends from the mouth to the anus, meaning multiple organs have the potential to develop cancerous tumors.  

Most common types of GI cancer among people with CF:  

• Colorectal 
• Pancreatic
• Liver  

Colorectal Cancer

• People with CF are five to ten times more likely to develop colon cancer than the general population, and people with CF post-transplant have 25 to 30 times the risk. CF carriers are twice as likely to develop colon cancer than those without any type of CFTR mutation.
• Many of the symptoms of colon cancer mimic those of CF. Symptoms include, but are not limited to, rectal bleeding, more frequent diarrhea or constipation, belly discomfort, and losing weight without trying.
• CFRI believes that people with CF should be screening for colon cancer earlier than the current recommended age of 40 (30 post-transplant).  

Pancreatic Cancer

• Studies show that people with CF have a five to ten times higher risk of developing pancreatic cancer than the general population.  
• This increased risk is partly due to problems with the CFTR gene, which helps control the movement of ions in and out of cells. Ions help control the movement of water and other substances across cell walls, including epithelial cells that line an individual’s pancreatic ducts. For people with CF who have a mutation to their CFTR gene, this dysfunction can lead to the development of thickened secretions and create a microenvironment conductive to inflammation and cellular damage.  

Liver Cancer

• Current studies suggest that people with CF have an elevated risk of developing liver cancer between one point five to two times that of the general population.  
• People with CF possess a higher chance of developing cholestasis, which is a condition of the liver that occurs when bile flow is reduced or blocked. During cholestasis, the liver’s microenvironment is impaired and often inflamed, which can result in increased cell growth.  
• Additionally, the CFTR gene has been shown to play a role in liver regeneration; for people with CF, liver regeneration is impaired.  

Studies show that estrogen can help protect lung function and slow the progression of CF by increasing chloride secretion in one’s airways. This results in improved mucus clearance and can help people with CF manage their symptoms. Despite this benefit, estrogen can promote the growth of breast cancer cells by activating estrogen receptors. These receptors can trigger changes in cells that encourage rapid cell division. 

Additionally, estrogen also helps form new blood vessels, a process known as angiogenesis, which is essential for tumors to grow and spread. People with CF should always speak to a medical professional about the benefits and risks of taking estrogen-focused hormone replacement therapy.  

Current screening recommendations advise that women (and people assigned female at birth) begin receiving mammograms at age 40, with those known to be at a higher-than-average risk advised to begin speaking to their doctor about being screened earlier.  

Lung cancer remains one of the most common types of cancer worldwide. For those with CF, an elevated risk has been observed, yet the extent of this risk is not fully understood. 

Bronchial gland carcinoma is one type of lung cancer, which has been shown to be more prevalent among people with CF despite being relatively rare among the general population. As with many other types of cancer, chronic inflammation and tissue damage are linked to increased respiratory malignancy.  

The three main types of skin cancer include:  

• Basal Cell Carcinoma  
• Squamous Cell Carcinoma  
• Melanoma  

People with CF are encouraged to routinely do body scans to assess for changes to the skin and visit a dermatologist frequently for professional screening. People with CF and transplant recipients often use medications that result in increased photosensitivity.  

Basic skin cancer screening includes assessing patches on the skin that are:  

• Asymmetrical  
• Have irregular, scalloped, or poorly defined borders 
• Are varied in color  
• Have a diameter larger than the width of a pencil eraser 
• Are raised, bumpy, or dimpled  

The human papillomavirus (HPV) is the most common sexually transmitted infection in the United States. People with CF are at an elevated risk of developing HPV-related cervical dysplasia, which is the principal risk factor for cervical cancer. For those who have received a transplant—particularly lung, kidney, or liver—that risk is increased; this is largely due to the use of immunosuppressant therapies by individuals post-transplant so as to reduce the likelihood of organ rejection.

A 2022 study indicated that women with CF above the age of 25 who had not undergone a transplant had a 13% increased risk of developing abnormal cervical cells, compared to the general population. It is believed that this increased risk for people with CF—who have undergone transplantation or not—is largely due to abnormal properties found in their cervical mucus, which may cause inflammation and disturbed vaginal pH levels.

Individuals who have undergone a kidney transplant have been documented to have:

• Two to six times the risk of cervical intraepithelial neoplasia (precancerous abnormal cell growth)
• Three times the risk of cervical cancer
• 20 to 50 times the risk of vulvar carcinoma

HPV vaccination and annual cervical cancer screening are encouraged for those with CF.  Multiple studies demonstrate that countries with strong HPV vaccination programs showed a reduction in HPV-16 & HPV-18, which are documented as being associated with cancer development. Speaking to your doctor about vaccination may be an appropriate first step in your cervical cancer prevention journey.