Research Studies

General Research Opportunities:

• The All of Us Research Program
  • Eligibility: Individuals 18+ years old living in the United States.
  • The All of Us Research Program is a historic effort from the National Institutes of Health (NIH) to gather data from one million or more people living in the United States to accelerate research and improve health. By taking into account individual differences in lifestyle, environment, and biology, researchers will uncover paths toward delivering precision medicine.
  • Visit https://allofus.nih.gov/ or see a list of participating Health Care Provider Organizations.

• ​NIH Genomic Services Research Program (GSRP)
  • Eligibility: People who have received a genetic testing result related to cancer risk or heart disease, even though they were not having genetic testing to get information about this condition.
  • An NIH-funded study of individuals with a pathogenic or likely pathogenic variant in one of the ACMG59 genes that is not directly related to the original indication for testing. The goal of this study is to learn what people think about and do with results like this.
  • Visit www.genome.gov/gsrp. If you are interested, please contact us at gsrp@nih.gov, 301-402-6871, or https://www.surveymonkey.com/r/gsrpreferral.​
• GenomeConnect
  • Eligibility: Individuals who had genetic testing or parents/guardians of someone who has had testing regardless of their health history or genetic test results.
  • An NIH-funded online patient portal supported by the Clinical Genome Resource (ClinGen) project. If you are willing to share your genetic and health data (de-identified for privacy) to advance knowledge about their genetic variants and to connect with others with the same variant/condition:
  • Visit: www.genomeconnect.org or email the coordinator at info@genomeconnect.org.

Cancer-related research opportunities

Hereditary Breast and Ovarian Cancer:

• Mayo Clinic’s Inherited Breast and Ovarian Cancer Study
  • Eligibility: Individuals with a mutation and/or Variant of Uncertain Significance (VUS) detected in a gene associated with breast and/or ovarian cancer.
  • A group of doctors and scientists at the Mayo Clinic in Rochester, Minnesota, are working together to advance our understanding of breast cancer. Their goals are to define the risks of cancer for pathogenic mutations and variants of unknown significance (VUS) in people who have been tested for breast and ovarian cancer genes.
  • For more information, you may contact the study investigators, Fergus Couch, Ph.D., Investigator (507) 266-0878, couch.fergus@mayo.edu or Jodie Cogswell, Study Coordinator (507) 538-6864, cogswell.jodie@mayo.edu.

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• SOROCK Clinical Trial ID NCT04251052
  • Eligibility: For individuals assigned female at birth with a BRCA1 likely pathogenic or pathogenic mutation between ages 35 and 50.
  • A clinical trial studying if removal of just the fallopian tubes can reduce the risk of ovarian cancer nearly as much as removing both the ovaries and fallopian tubes.
  • Visit: https://clinicaltrials.gov/study/NCT04251052

• University of Washington’s Genomic Analysis of Hereditary Breast and Ovarian Cancer (HBOC) Cancers in Families
  • Eligibility: Eligible families include at least four closely-related cases on the same side of the family of: invasive breast cancer; invasive breast and/or ovarian/peritoneal/fallopian tube cancer; and three or more cases of prostate cancer. At least one person with invasive cancer must have negative testing for the BRCA1/2 genes. Enrollment in the study requires participation by most/all affected living individuals. Families may be approved with fewer affected relatives in the family and/or participating in some cases.
  • This study focuses on individuals with invasive breast/ovarian/prostate cancer who have a significant breast, ovarian and/or prostate cancer family history but who have tested negative for known deleterious mutations in the BRCA1 and BRCA2 genes or have suspicious variants of uncertain significance.
  • For more information, you may contact the study coordinator Jessica Mandell, MS, LCGC at jmandell@uw.edu, phone: 540-389-5328, fax: 206-616-4295

Pancreatic Cancer:

• The Cancer of the Pancreas Screening-5 (CAPS5)
  • Eligibility: For individuals with a mutation detected in a gene associated with pancreatic cancer and/or a personal history or strong family history of pancreatic cancer.
  • A prospective study investigating an experimental drug and its effects on progression or development of pancreatic cancer.
  • Visit: https://clinicaltrials.gov/ct2/show/NCT02000089

• National Familial Pancreas Tumor Registry (NFPTR)
  • Eligibility: For individuals with a mutation detected in a gene associated with pancreatic cancer and/or a personal history or strong family history of pancreatic cancer:
  • A research study aimed at identifying the causes of pancreatic cancer. Participation involves the completion of a questionnaire about your health history and that of your family members.
  • Visit:https://nfptr.org/ to see if you or your family qualifies to join the pancreas tumor registry.

• Pancreatic Cancer Early Detection Program (PCEDP), White Plains, NY
  • Eligibility: Individuals who have a family history or personal history of pancreatic cancer and/or have a genetic mutation associated with increased risk for pancreatic cancer.
  • An interventional study screening for individuals at elevated risk for the development of Pancreatic Cancer. Enrolled individuals will undergo Endoscopic Ultrasound (EUS) alternating with Magnetic Resonance Imaging (MRI), every six to 12 months, for up to 5 years.
  • Visit: https://clinicaltrials.gov/ct2/show/NCT02206360?term=Pancreatic+cancer+screening&recr=Recruiting&cntry1=NA%3AUS&rank=2

• Early Detection Clinic for Pancreatic Cancer, Scottsdale, AZ
  • Eligibility: Individuals with a personal or family history of pancreatic cancer, and/or a gene mutation associated with increased risk for pancreatic cancer.
  • A risk assessment and screening study for individuals with a personal or family history of pancreatic cancer and/or a gene mutation associated with increased risk for pancreatic cancer.
  • Visit: https://www.honorhealth.com/medical-services/cancer-care/early-detection/research

• Memorial Sloan Kettering Cancer center registry for BRCA and PALB2 mutation carriers with pancreatic cancer
  • Eligibility: Individuals with a mutation in BRCA1, BRCA2 or PALB2.
  • A prospective registry study conducted at Memorial Sloan Kettering Cancer center. The purpose of this study is to better understand why pancreatic cancer develops in some people who have mutations in BRCA1, BRCA2 or PALB2
  • Visit: https://clinicaltrials.gov/ct2/show/NCT01983410?term=Pancreatic+cancer+genetic+mutation+carrier&recr=Recruiting&cntry1=NA%3AUS&rank=3

Lynch Syndrome:

• Cancer Preventive Vaccine Nous-209 for Lynch Syndrome Patients [National Cancer Institute]
  • Eligibility: Individuals with a mutation in MLH1, MSH2, MSH6, PMS2, EPCAM
  • This trial aims to see whether the Nous-209 vaccine, a cancer preventive vaccine, is safe to give to patients with Lynch syndrome, whether people are able to take the Nous-209 vaccine without becoming too uncomfortable, and how the immune system of patients with Lynch syndrome respond to the Nous-209 vaccine. This trial may help researchers determine whether receiving Nous-209 has an effect on the development of polyps or tumors in the colon.
  • Visit: https://classic.clinicaltrials.gov/ct2/show/NCT05078866

TP53/Li-Fraumeni (LFS) Syndrome:

• LiFT UP Study
  • Eligibility: Individuals with Li-Fraumeni syndrome/TP53 germline gene mutation.
  • A research project for individuals and families from around the world. The goal is to learn more about adults and children who have a change in the TP53 gene in their blood to better predict their specific cancer risks. This may be Li-Fraumeni syndrome (LFS) or something else.
  • Visit: LiftUpStudy.org

Kidney Cancer:

• Kidney Cancer DNA Registry
  • Eligibility: Personal and/or family history of kidney (renal) cancer
  • A prospective registry study conducted at Memorial Sloan Kettering Cancer Center. The purpose of this registry is to help develop better methods of preventing, diagnosing and treating kidney cancer.
  • Visit: https://clinicaltrials.gov/ct2/show/NCT02087852?term=kidney+cancer&recr=Recruiting&cntry1=NA%3AUS&rank=42

Other Cancer-related research:

• FORCE
  • Eligibility: People with or at high risk for hereditary cancers
  • FORCE (Facing Hereditary Cancer Empowered) is an organization that improves the lives of the millions of individuals and families facing hereditary breast, ovarian, pancreatic, prostate, colorectal and endometrial cancers. Their community includes people with a BRCA, ATM, PALB2, CHEK2, PTEN or other inherited gene mutation and those diagnosed with Lynch syndrome. Visit their featured research page which lists cancer prevention, treatment and quality of life research studies.
  • Visit: https://www.facingourrisk.org/research-clinical-trials/featured​

• The TMIST Study: Comparing Digital Mammograms (2-D) with Tomosynthesis Mammograms (3-D)
  • Eligibility: Individuals aged 45 to 74 who are planning to get a routine screening mammogram.
  • TMIST (Tomosynthesis Mammographic Imaging Screening Trial) is a research study that will help researchers learn about the best way to find breast cancer in women who have no symptoms. It compares two types of digital mammograms: standard digital mammograms (2-D) and a newer technology called tomosynthesis mammograms (3-D) to help understand which is best for breast cancer screening. The trial is taking place in mammogram clinics around the United States, with a few sites in Argentina, Canada, Italy, Korea, and Peru.
  • Visit: https://www.cancer.gov/types/breast/research/tmist-trial

• Inherited CAncer REgistry (ICARE) Initiative
  • Eligibility: Individuals aged 18 or older who have a personal and/or family history of cancer.
  • ICARE is a registry of individuals with a personal and/or family history of cancer interested in participating in inherited cancer research. Participants of the registry are informed about research opportunities for which they might be eligible and receive clinical and research updates through newsletters, educational webinars, and other resources. There is no cost to participants and there is no need for an in-person visit.
  • For more information, visit: https://inheritedcancer.net/online-enrollment#.WnoDlZM-eL4. You may also contact the study team directly by phone (615-875-2444) or email (ICARE@inheritedcancer.net). ​

• PROMPT
  • Eligibility: Individuals who have had multi-gene panels related to cancer risk; a form of genetic testing that looks for mutations in several different genes at once.
  • An online registry for people who have undergone testing for cancer-causing genetic mutations. This study is being co-led by physicians and scientists at the Abramson Cancer Center of the University of Pennsylvania, the Mayo Clinic, Memorial Sloan Kettering Cancer Center, and Patient Crossroads.
  • Visit:https://promptstudy.info/or see the letter attached to your genetic counseling note.

Heart disease related research opportunities

Familial Hypercholesterolemia (FH):

• THE CASCADE FHTM REGISTRY
  • Eligibility: Individuals with Familial Hypercholesterolemia (FH)
  • A resource offered by the FH Foundation that helps collect information on individuals with FH and their family members. The information is stored in a highly secure portal located on the FH Foundation website. Entering your information in this registry may help researchers to promote understanding of FH in the medical community and public domain, examine gaps in care for those living with FH, and improve adherence to guideline-recommended treatments for FH.
  • Visit: https://thefhfoundation.org/fh-research/registry

Hereditary Cardiomyopathy:

• SHaRe Registry
  • Eligibility: Individuals and families with genetic heart disease, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic cardiomyopathy.
  • A multi-center, international repository of clinical and laboratory data on individuals and families with genetic heart disease developed as a collaboration with several world-leading cardiovascular centers. The goal of SHaRe is to advance the understanding of genetic heart disease.
  • Visit: https://theshareregistry.org/

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• ARVD/C Patient Registry (The Johns Hopkins Hospital)
  • Eligibility: Children and adults who have been diagnosed with ARVD/C and their family members.
  • The goal of this registry is to follow patients and family members with Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), allowing researchers to understand the cause and course of ARVD/C, including genetic aspects of ARVD/C. The study involves collection of past medical records and continued collection for 5 years, as well as a blood sample to obtain DNA for genetic studies.
  • Visit:https://www.hopkinsmedicine.org/heart-vascular-institute/cardiology/arvd#researchanchor for more information, or contact 410-502-7161 to join.
• The Dilated Cardiomyopathy (DCM) Research Project
  • Eligibility: Individuals with dilated cardiomyopathy (DCM) and their first-degree relatives (parents, siblings, children).
  • The project’s goal is to identify the genetic causes of DCM in order to understand how DCM progresses, and to devise new prevention and treatment strategies for cardiomyopathy and heart failure.
  • Visit: https://dcmproject.com/

Arteriopathies:

• Marfan Foundation
  • Eligibility: Individuals with Marfan syndrome and related disorders, including Loeys-Dietz syndrome, Vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection (FTAAD).
  • The Marfan Foundation provides information and support to healthcare providers, caregivers, and families affected by Marfan syndrome and related disorders, including FTAAD and Ehlers-Danlos syndrome.
  • Visit the research page to view a list of studies currently seeking participants: https://marfan.org/research/current-studies/

• Genetic Aortic Disorders Association of Canada (GADA)
  • Eligibility: Individuals with genetic aortic disorders, including Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysm and dissection (FTAAD).
  • Supports individuals living with genetic arteriopathies through awareness, education and research opportunities
  • Visit:https://www.gadacanada.ca/participate-in-research

• The John Ritter Foundation for Aortic Health
  • Eligibility: Individuals with a personal or family history of thoracic aortic aneurysm and dissection
  • Dedicated to the identification of individuals at risk for arterial dissections and the treatment of thoracic aortic disease through medical research.
  • For more information, visit: https://johnritterfoundation.org/research/

• Vascular Ehlers-Danlos Syndrome Collaborative
  • Eligibility: Individuals with Vascular Ehlers-Danlos Syndrome (VEDS) or their family members
  • A patient-clinician collaboration that aims to advance the understanding of vascular EDS and improve care for individuals diagnosed with mutations in COL3A1.
  • Visit:https://thevedsmovement.org/research/veds-collaborative/

Hereditary Arrhythmias:

• The International Long QT Registry
  • Eligibility: Individuals with Long QT syndrome and their family members.
  • The International Long QT Syndrome Registry (ILQTSR) is a research organization that maintains an international database on long QT syndrome. The aim of the registry is to improve understanding of the genetics and natural history of this rare heart disorder. It also seeks to improve treatments for affected individuals.
  • To participate, email heartajm@heart.rochester.edu