Cancer risk associated with inherited mutations in Lynch syndrome genes

Questions To Ask Your Health Care Provider

• I have a mutation in a Lynch syndrome gene, what cancer screening tests do you recommend?
• My family has a history of colorectal, pancreatic, stomach, ovarian or other cancers, should I consider genetic testing?
• What are the preventive options for reducing my cancer risk?
• What are the signs or symptoms of cancers that I am most at risk for and when should I seek evaluation from my healthcare provider?
• I have Lynch syndrome and I’ve been diagnosed with cancer. Does my Lynch syndrome mutation affect my treatment options?

Open Clinical Trials

The following studies are enrolling people with a mutation linked to Lynch syndrome:

• NCT00508573 Registry for Women Who Are At Risk Or May Have Lynch Syndrome. The goal of this study is to create a registry of information about women who have or are at risk for Lynch syndrome, in order to study gynecologic cancer risks. All patients will be enrolled at MD Anderson.
• NCT04125914: Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families. This trial studies how well weight management and health behavior intervention works in helping patients with hereditary breast and ovarian cancer and Lynch syndrome mutation carriers lose or maintain a healthy weight and lower their risk for cancer
• NCT00927680: Familial Colorectal Cancer Registry in Hispanics (PURIFICAR). This study will serve as the foundation for our large, island-wide, population-based, genetic-epidemiologic study of familial colorectal cancer in Puerto Rico.
• NCT00582296: Multi-Organ Screening Recommendations in Patients With Lynch Syndrome. The purpose of this study is to examine how people with a family history of colon cancer and other related cancers respond to recommendations for cancer screening after genetic counseling.
• NCT03805919: Men at High Genetic Risk for Prostate Cancer. The goal of this research is to study men with specific genetic changes and determine who is at higher risk for getting prostate cancer. Men ages 30-75 who have a mutation in one of the following genes will be eligible: BRCA 1 and 2, DNA Mismatch Repair (MMR) genes associated with Lynch syndrome, (MLH1, MSH2, MSH6, PMS2, and EPCAM), HOXB13, ATM, NBN, TP53 CHEK2, PALB2, RAD51D, or FANCA.
• NCT02206360: Pancreatic Cancer Early Detection Program (PCEDP). This study uses ultrasound or MRI to test early detection of pancreatic cancer. Early detection testing is recommended for individuals at elevated risk for the development of Pancreatic Cancer. Known carrier of any of the following mutations (BRCA1, MLH1, MSH2, PMS2, MSH6, EPCAM , P53, PALB2, APC, or ATM) PLUS first or second degree relative affected with pancreatic cancer;
• NCT02775461: Pancreas Registry and High Risk Registry. The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic cancer, precancerous lesions of the pancreas, inflammatory lesions of the pancreas, cystic lesions of the pancreas, and patients at high-risk of pancreatic cancer such as those with a family history of pancreatic cancer or with a family history of a syndrome known to be associated with pancreatic cancer.
• NCT03762590 GENetic Education Risk Assessment and TEsting Study (GENERATE). The goal of the GENERATE study is to improve genetic testing and cancer prevention in family members of pancreatic cancer patients with identified genetic mutations (inherited changes). Eligible participants are people who themselves have not had genetic counseling and have a close relative with pancreatic cancer or a relative with a mutation in one of the following genes: APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, or TP53.

The following screening and prevention studies are open to people with Lynch syndrome. 

Colorectal cancer

• NCT03831698: Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE). This study assesses 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 Lynch Syndrome Syndrome. This study investigates whether a common cholesterol-lowering agent (atorvastatin) alone or combined with a nonsteroidal anti-inflammatory drug (aspirin) reduces the risk of colorectal cancer in high-risk individuals with Lynch syndrome.

Gynecologic cancers

• NCT05257057: Frequency of Endometrial Cancer Precursors Associated With Lynch Syndrome. This study examines endometrial hyperplasia specimens and compares the frequency of Lynch syndrome gene mutations between people with endometrial hyperplasia and those with endometrial cancer. 
• NCT00508573: Registry for Women Who Are At Risk Or May Have Lynch Syndrome. This study facilitates the study of gynecologic cancer risks by creating a registry of information about women who have or are at risk for Lynch syndrome, 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 this effort is to develop a clinical diagnostic test to detect early-onset ovarian cancer, as currently, no reliable screening or early-detection tests are available.

Prostate cancer

• NCT03805919: Men at High Genetic Risk for Prostate Cancer. This is a prostate cancer screening study using MRI in high-risk men is open to men with Lynch syndrome and other mutations.
• NCT05129605: Prostate Cancer Genetic Risk Evaluation and Screening Study (PROGRESS).  This study looks at how well prostate MRI works as a screening tool for men at high risk for prostate cancer. Enrollment is open to men with an inherited mutation in ATM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, TP53 and other genes. 

Pancreatic cancer

• NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esophageal ultrasound 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 MLH1 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 identify biomarkers of pancreatic cancer in high-risk people. Enrollment is open to people with an MLH1 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. MRI and magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for early-stage pancreatic lesions.

Other clinical trials for patients with endometrial cancer can be found here.