Family Cancer Syndromes

Some people are born with a gene change (also known as variant or mutation), which can increase the risk of cancer. Gene variants or mutations can be passed down from generation to generation (inherited). The group of syndromes that cause gene changes that increase the risk of cancer are called family cancer syndromes or hereditary cancer syndromes. This inherited gene change does not mean you will be diagnosed with cancer, but it does mean your risk is much higher than average. Up to 10% of all cancers are hereditary (inherited).

Family cancer syndromes are diseases and syndromes that are inherited or passed down from biological (birth) family and put you at a higher risk of developing cancer. You probably know genes carry instructions that tell your cells what to do. These instructions (or DNA) determine your eye color, height, hair, etc … What you may not realize is your genes also help protect you from cancer. If there is a gene change (variant or mutation) in your gene’s DNA it will cause your gene to no longer work as it should. If the gene mutation happens in the gene that helps protect you from cancer, your risk greatly increases for developing cancer.

If you have a family cancer syndrome, you may be at risk of developing cancer at a younger age and have a have a higher risk of developing more than 1 type of cancer.

Often underdiagnosed and usually inherited, family cancer syndromes increase the risk of developing cancer and at a younger age. At this time, 50 family cancer syndromes have been identified. More common hereditary syndromes include:

• Cowden syndrome (caused by mutations to the PTEN gene that increases the risk of tumors in locations including breast, uterus and thyroid)
• Familial adenomatous polyposis (FAP) syndrome (caused by mutations to the APC gene that increases the risk of forming 100s to 1000s of abnormal growths called colon polyps)
• Hamartomatous polyposis syndromes or HPS (group of syndromes that cause non-cancerous, disorganized polyps throughout the gastrointestinal tract)
• Hereditary breast and ovarian cancer syndrome (caused by mutations to either the BRCA1 or BRCA2 gene)
• Li-Fraumeni syndrome (most often caused by mutations to the TP53 gene)
• Lynch syndrome (caused by mutations to the MLH1, MSH2, MSH6, PMS2 or ECPCAM gene)
• Peutz-Jeghers syndrome or PJS (caused by variants to the STK11 gene, also known as the KKB1 gene, that causes polyps in the body increasing the risk of developing one or more of several types of cancer)

The following risk factors may be an indication that you have a family cancer syndrome.

• One family member with more than 1 type of cancer
• Cancer occurring in a family member whose sex is not often associated with that type of cancer, such as breast cancer in a male family relative
• Different family members with rare cancers
• Family members that have developed more than 1 cancer in the same part of the body, different parts of the body or sets of paired organs (for example, both breasts or both eyes)
• Family members with cancers occurring before 50 years of age
• Same or similar types of cancers are common in more than 1 generation of your biological family
• Two or more of your first-degree, biological family members (parents, siblings or children) have developed the same type of cancer, a rare type of cancer and/or cancers known to be caused by a family cancer syndrome

It is important to speak with your doctor about diseases or syndromes that run in your family. Your doctor may recommend genetic counseling or testing to see if you may have inherited the same gene that caused the condition in your relative(s). Understanding your risk factors for cancer allows you to make the most informed decisions about your healthcare.

The University of Kansas Cancer Center houses several high-risk cancer prevention clinics and programs geared toward patients with specific hereditary and genetic factors that make them more likely to develop one or more cancers in their lifetime. If you think you may qualify, please speak with a member of your care team about referring you to the appropriate clinic.

We are the region’s only National Cancer Institute-designated comprehensive cancer center and 1 of fewer than 60 nationwide to earn the distinction. Women and men treated at an NCI designated cancer center have a 25% greater chance of survival.

Here, each person is unique, so we tailor your cancer prevention plan to your personal needs. We offer comprehensive multidisciplinary care with our sub-specialists including oncologists, gastroenterologists, colorectal surgeons, genetics counselor, radiologists and onco-psychologists. In addition to a skilled multidisciplinary team, we have the technology and techniques that allow us to best take care of you on your individual prevention path. Our advanced imaging of the gastrointestinal tract can detect precancerous and early cancers and our specialized techniques, such as endoscopic mucosal resection and endoscopic submucosal dissection help remove large precancers and early cancers without surgery. Maybe most important, we will discuss your plan as a team to stay up to date on your care and progress.