I've Tested Positive, Now What?
Cancer risk associated with an inherited mutation
If you have tested positive for a mutation, we recommend speaking with a genetics expert who can assess your personal and family history of cancer, and can help you decide on a plan to manage your cancer risk.
People with an inherited mutation have an increased lifetime risk for several cancers. Additionally, the cancers tend to occur at a younger age than people in the general population. The following are the most common cancers:
- lifetime risk of 8.7 - 20 percent compared to 4 percent in the general population.
- average age of diagnosis is 61-66 compared to 68 - 72 in the general population.
- lifetime risk of 13-26 percent compared to 3 percent in the general population.
- average age of diagnosis is 49 - 50 compared to 60 in the general population.
Other cancer risks
The exact risk for skin growths called sebaceous neoplasia of the skin has not been well established, but experts believe the risk is increased.
The risk for the following cancers in people with mutations is under debate. The following cancers have been linked with the other genes associated with . However, some studies suggest no increased risk for the following cancers in people with a mutation:
- ovarian cancer
- stomach cancer
- bladder and other urinary tract cancers
- small bowel cancer
- central nervous system cancer
- pancreatic cancer
- female breast cancer
Research on how mutations in the gene affect cancer risk is ongoing.
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
The following screening and prevention studies are open to people with .
- NCT03831698: Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With (COLYNE). This study is looking at the effects of omega-3 acid ethyl esters capsules (generic Lovaza) on molecular and intestinal microbiota changes in participants at high risk for colorectal cancer.
- NCT04379999: Atorvastatin ± Aspirin in Syndrome. This study will investigate whether a common cholesterol lowering agent (atorvastatin) alone or combined with a nonsteroidal anti-inflammatory drug (aspirin) reduces the risk of colorectal cancer (CRC) in high-risk individuals with .
- NCT05257057: Frequency of Endometrial Cancer Precursors Associated With . The purpose of this study is to examine endometrial hyperplasia specimens and compare the frequency of gene mutations between people with endometrial hyperplasia and those with endometrial cancer.
- NCT00508573: Registry for Women Who Are At Risk Or May Have . The goal of this study is to create a registry of information about women who have or are at risk for , to facilitate study of gynecologic cancer risks.
- Validating a Blood Test for Early Ovarian Cancer Detection in High-risk Women and Families: MicroRNA Detection Study (MiDE). The goal of MiDe is to develop a clinical diagnostic test to detect early-onset ovarian cancer, as currently, no reliable screening or early-detection tests are available. Participants can be expected to provide up to 4 tubes of blood every 6 months for up to 5 years. Samples can be collected through mobile phlebotomy all around the US.
- NCT03805919: Men at High Genetic Risk for Cancer. This is a cancer screening study using in high-risk men. This study is open to men with and other mutations.
- NCT05129605: Cancer Genetic Risk Evaluation and Screening Study (PROGRESS). This study will look at how well MRI works as a screening tool for men at high risk for cancer. This study is open to men with an inherited mutation in , , , , , , HOXB13, , , , , , , , , and other genes.
- NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esophageal to screen for pancreatic cancer in high-risk people. The study is open to people who have a family history of pancreatic cancer and an mutation or other mutation linked to increased cancer risk.
- NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples taken over time to look for biomarkers of pancreatic cancer in high-risk people. The study is open to people with an mutation or other mutation linked to increased cancer risk.
- NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High-Risk Individuals. The main goal of this study is to screen and detect pancreatic cancer and precursor lesions in individuals with a strong family history or genetic predisposition to pancreatic cancer. and magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for pancreatic lesions.
Other clinical trials for patients with endometrial cancer can be found here.