Clinical Research Opportunities in Cancer Genetics

IGNITE-TX is a study that is researching how to support families with hereditary breast and ovarian cancer (HBOC) syndrome and Lynch syndrome (LS).

The study will investigate how to help families understand their cancer risk, share genetic testing results about cancer risk with family members, and access information and resources to get genetic testing if they decide it is right for them.

Who is eligible?

• Anyone 18 or over with known BRCA1, BRCA2 or Lynch syndrome (MLH1/MSH2/MSH6/PMS2/EPCAM) mutation

How to get involved?

• Please contact the study team via phone at 713-792-9155 or email ignitestudy@mdanderson.org.

The PeACE study is for families with a BRCA1 or BRCA2 mutation. It offers young women support around their risk of hereditary breast and ovarian cancer.

We are examining the differences between a new, peer-support coaching program and the programs that are currently offered by community organizations.

Who is eligible?

• BRCA carrier and/or female relatives may be eligible
• Young women aged 21-30 closely related to someone who carries a BRCA mutation (1st/2nd/3rd-degree relatives)
• English speaking
• Non-UT Southwestern patients can participate through “community recruitment,” including patients at Parkland, JPS Health Network, and Moncrief Cancer Institute

How to get involved?

• Interested candidate contact information can be forwarded to Dr. Makhnoon’s team to be contacted by a member of the study staff.
• Individuals can call or text the study coordinator at 202-209-5567 or email peacestudy@georgetown.edu.

This study evaluates the reduction in the risk of any breast cancer (invasive or ductal carcinoma in situ [DCIS]) in women with germline BRCA1 mutation treated with denosumab compared to placebo.

Who is eligible?

• Premenopausal women ages 25-55 years with P/LP in BRCA1 without history of breast/ovarian/fallopian/peritoneal cancer
• Willing to defer risk-reducing mastectomy for at least two years

How to get involved?

• Interested patients should ask their health care provider for more information to determine qualifications.

This study seeks to learn what people who learn about unexpected results (“secondary” results) think about and do with results. What can we learn about the health of people with secondary results?

Who is eligible?

• Anyone who speaks English or Spanish and is willing to talk to the study team about the result on the phone
• Will consider a free visit to NIH for screening tests related to their result

How to get involved?

• Call 240-408-0447 (voice/text) or email gsrp@nih.gov.

This study seeks to better understand the prevention and treatment of hereditary breast and ovarian cancers, as well as better understand the interaction between various hormonal, reproductive, and lifestyle factors that may be associated with the development of breast and ovarian cancer in high-risk families.

Who is eligible?

• Any woman over age 18 with a known BRCA1/BRCA2 mutation

How to get involved?

• Accrual is currently paused
• Participation involves a questionnaire that asks questions about your health, menstrual cycle, lifestyle, etc., every two years. The questionnaire takes 30 minutes to complete.

The objective of this study is to follow people with mutations or variants in genes on these multigene panels, so that patients, physicians, and researchers can more clearly understand these lesser-known risks.

Who is eligible?

• Anyone with a mutation detected through a multigene panel test

How to get involved?

• Enrollment online
• Email prompt@uphs.upenn.edu

ICARE is a registry for anyone with a mutation in a hereditary cancer predisposition gene. It seeks to describe the:

• Natural history of cancer development, tumor progression, and response to treatment in hereditary cancers
• Effects of surveillance and prophylactic interventions on cancer detection and development in individuals at risk for hereditary cancer
• Effects of the cancer genetic counseling and testing process on individuals at risk for hereditary cancer

Who is eligible?

• Men and women, over age 18, who have a personal and/or family history of cancer

How to get involved?

• Enroll through the online consent form

Also known as the WISP trial, this clinical trial studies how well two surgical procedures (bilateral salpingectomy and bilateral salpingo-oophorectomy) work in reducing the risk of ovarian cancer for individuals with BRCA1 mutations.

Who is eligible?

• BRCA1-positive women/individuals with at least 1 ovary/fallopian tube without cancer
• Age 35-50
• More eligibility details

How to get involved?

• UT Southwestern is a participating site. Interested patients should ask their health care provider for more information to determine qualifications.

ClinicalTrials.gov: Database provided by the U.S. National Library of Medicine (National Institutes of Health) that lists privately and publicly funded clinical studies conducted around the world.

National Cancer Institute Clinical Trials: A searchable database of clinical trials supported by the National Cancer Institute. Clinical trials are offered at locations across the United States and Canada.

All of Us: A research program through the National Institutes of Health that is working to improve health care by building a diverse database that can inform thousands of studies on a variety of health condition in order to understand risk factors for certain diseases, better tailor treatments and therapies, connect people to the right clinical studies, and learn how technology can improve health.

Genetic Testing for Men (GENTLeMEN): This study seeks to remove barriers and improve access to genetic testing and counseling. Through this study, men in Washington state with metastatic prostate cancer can receive free genetic testing and genetic counseling.

Genomes2People: Funded by the NIH, this research program at Brigham and Women’s Hospital, Broad Institute and Harvard Medical School explores medical, behavioral and economic impact of using genomic information in medicine and in society at large

ICARE: A study for women who have a pathogenic or likely pathogenic PALB2 gene mutation. The purpose of the study is to determine the best treatment options for women with PALB2 mutations.

Information is Power: HudsonAlpha developed the project to allow individuals in North Alabama access to information about their cancer risks through genetic testing.

Making Genetic Testing Accessible (MAGENTA): A collaborative study to improve availability of genetic testing for hereditary cancer syndromes to at-risk individuals through use of an online genetic testing service. Enrollment is now closed.

MyCode: This is a precision medicine project through Geisinger. It includes a system-wide biobank designed to store blood and other samples for research use by Geisinger and Geisinger collaborators. 

Ohio Colorectal Cancer Prevention Initiative: This initiative includes 50 hospitals throughout Ohio and focuses on screening newly diagnosed colorectal cancer patients and their relatives for Lynch syndrome.

Risk Factor Analysis of Hereditary Breast and Ovarian Cancer: The largest long-term study of women with a BRCA1 or BRCA2 mutation. Started by Dr. Steven Narod (Women’s College Research Institute) in 1995, the purpose of the study is to understand the prevention and treatment of hereditary breast and ovarian cancers.

Wisdom Study: A collaboration between UCSF, UCLA Health, UC San Diego, UC Davis, UC Irvine, U Chicago Medicine, LSU Health, University of Alabama at Birmingham, and Stanford Health to determine the best approach for breast cancer surveillance in women.

WISP Trial: The Women Choosing Surgical Prevention study is a multi-site study to determine whether interval salpingectomy, followed by delayed oophorectomy (ISDO) can improve sexual functioning and menopausal symptoms compared to standard risk-reducing salpingo-oophorectomy (RRSO)

Advocure NF2: Information and support for people with NF2 through advocacy and fostering research on NF2. Ongoing research opportunities are listed.

Alive and Kickn: Alive and Kickn is a support group for patients and families with Lynch syndrome. They aim to help educate patients, encourage screening, allow patients to connect with others with Lynch syndrome, and promote research. Their HEROIC Registry allows patients to share their own genetic test results to further research about Lynch Syndrome.

American Childhood Cancer Organization: Provides information about childhood cancers, advocacy and resources, including information about clinical trials.

Association for Multiple Endocrine Neoplasia Disorders: The group is based in the UK but has a branch in the US (AMEND USA). The group provides information and support for individuals with MEN1, MEN2 and related disorders and also maintains a research registry for patients and families who would like to participate in future research.

AT Children’s Project:This group promotes research and education pertaining to Ataxia-Telangiectasia (A-T). They provide information about ongoing clinical studies and trials for A-T.

Basser Research Center for BRCA1&2: The University of Pennsylvania has established a new center focused solely on the prevention and treatment of cancers that are associated with heritable BRCA mutations. The Basser Center houses several initiatives focused on studying hereditary cancer, and provides funding for collaborative research, education, and outreach programs around the world.

Bloom’s Syndrome Foundation: The foundation promotes research and education pertaining to Bloom’s syndrome.

Children’s Brain Tumor Foundation: A non-profit organization that provides information and support resources for families of children with brain and spinal cord tumors and supports research on childhood brain and spinal cord tumors.

Children’s Tumor Foundation: Resource for patients and families with NF1, NF2 or schwannomatosis that provides information and research opportunities.

Colon Cancer Alliance Clinical Trials for Colon Cancer and Rectal Cancer: This resource provides patient-friendly information about clinical trials for colorectal cancer. The Colon Cancer Alliance provides information about living with a colon cancer diagnosis, current clinical trials for colon cancer, treatments for colon cancer, personal stories of survivors, and additional support information. They also have a section for young individuals diagnosed with colon cancer.

Colon Cancer Alliance for Research & Education for Lynch Syndrome: CCARE Lynch Syndrome is a 501(c) 3 non-profit dedicated to increasing Lynch syndrome awareness through advocacy, research and education. The Perlman Family CCARE Lynch Syndrome Research Stipend is awarded annually to researchers studying Lynch syndrome and related diseases.

CureSearch for Children’s Cancer: Funds and supports targeted and innovative children’s cancer research with measurable results, and is a source of information and resources for those affected by children’s cancer.

Gastric Cancer Foundation: The foundation focuses on research, education, and advocacy for patients affected by gastric cancer. They were the first group to form a gastric cancer registry for research, but also focus on genetic research as well.

Genetics of Endocrine Neoplasias Registry (GENR):The purpose of the registry, through MD Anderson Cancer Center, is to better understand the genetic basis of endocrine tumors and cancers.

Global Genes: The Global Genes' mission is centered on increasing rare disease awareness, public and physician education, building community through social media and supporting research initiatives to find treatments and cures for rare and genetic diseases.

Gorlin Syndrome Association: The association provides information and resources for those with Gorlin syndrome in addition to research opportunities through clinical trials and GSA registry.

International Ovarian and Testicular Stromal Tumor Registry: Repository of clinical and biologic data for ovarian and testicular stromal tumors to facilitate current and future research. Provides expert pathologic assessment establishing the diagnosis of ovarian and testicular stromal tumors and similar tumors and provide histopathologic details for each patient. Determines the prevalence of DICER1 germline mutations in patients with ovarian and testicular stromal tumors. The Registry determines the DICER1 immunohistochemical expression and miRNA expression profiles of gonadal stromal tumors with and without germline DICER1 mutations.

International Pleuropulmonary Blastoma Registry: The purpose of the registry is to continue to learn about PPB, provide latest information about diagnosis and treatment of PPB, explore genetic causes of PPB and educate the medical community about Registry findings. Family members can enroll their child using a consent form to authorize their child’s hospital and physicians to share information with the PPB Registry.

International Thyroid Oncology Group: This group offers thyroid cancer patients connections to other patients, education resources, and research opportunities to help find better cures for thyroid cancer patients.

International WAGR Syndrome Association: This group provides information and support resources for families of individuals with WAGR syndrome, as well as a patient registry.

Kidney Cancer Association: The association provides information on the diagnosis and treatment of kidney cancer, including hereditary kidney cancer, as well as support resources and information about clinical trials.

Know Your Tumor Precision Medicine Service: A service offered by the Pancreatic Cancer Action Network in collaboration with Tempus that provides molecular tumor profiling and treatment options for patients with pancreatic cancer. The Pancreatic Cancer Action Network is a nationwide network of people dedicated to working together to advance research, support patients affected by pancreatic cancer.

Li-Fraumeni Syndrome Association: LFSA provides a wide range of information, advocacy, and support services for individuals and families with Li-Fraumeni Syndrome. They support a consortium of researchers, medical providers and caregivers to further research and promote optimal care for the LFS community. They also hold an annual conference around the United States for patients with LFS.

Lynch Syndrome International: Lynch Syndrome International is a global, 501 (c)(3) nonprofit organization which provides services of support to those affected by Lynch syndrome. They also support for research endeavors and connect patients to research studies and/or clinical trials pertaining to Lynch syndrome.

Melanoma Research Foundation: The Melanoma Research Foundation is a non-profit group committed to the support of medical research in finding effective treatments for melanoma. The MRF also educates patients, caregivers and physicians about the prevention, diagnosis and treatment of melanoma. Additionally they offer pen pals, forums, and other patient-support information.

Memorial Sloan-Kettering Cancer Center, Retinoblastoma Program: Includes information about Retinoblastoma, diagnosis and treatment, clinical trial, support programs and services, and resources for the Blind and Visually Impaired.

National Pancreas Foundation Clinical Trials Resource Center: This resource, in partnership with CenterWatch, provides information on clinical research and new medical therapies for treating pancreas disease and related indications.

National Pancreas Foundation National Patient Registry: The purpose of the registry is to better understand pancreatic disease, effectiveness of treatments, and the quality of life for patients with pancreatic conditions.

ThyCa- Thyroid Cancer Survivors’ Association, Inc.: The group provides information and support (including list of local support groups) for people diagnosed with thyroid cancer, information about thyroid cancer conferences, the latest treatments, and research opportunities. The group promotes research and research funding, and provides information for thyroid cancer clinical trials.

National Ataxia Foundation: The foundation is the world leader for Ataxia research and have opportunities for patients to be involved in research through a registry, through clinical trials, tissue donation, and other means.

NF2 Information & Services: The group provides information on NF2 symptoms, diagnosis and treatment and lists some ongoing research opportunities.

No Stomach for Cancer: The organization provides support and resources for patients with stomach cancer. They work to connect patients and families with current research studies and clinical trials to help with efforts stomach cancer prevention efforts.

PanCAN’s Patient Registry: A global online database through the Pancreatic Cancer Action Network to look for patterns in treatments, side effect management, and diagnostics that will lead to improved outcomes for patients with pancreatic cancer. The Pancreatic Cancer Action Network is a nationwide network of people dedicated to working together to advance research, support patients affected by pancreatic cancer.

Pancreatic Cancer Action Network Clinical Trial Finder: A comprehensive and up-to-date database for pancreatic cancer clinical trials in the United States. The Pancreatic Cancer Action Network is a nationwide network of people dedicated to working together to advance research, support patients affected by pancreatic cancer.

Prevent Cancer Foundation: The foundation’s goal is to prevent cancer through research, advocacy, education and outreach. Funding is available for cancer prevention research.

Prospective Registry of MultiPlex Testing (PROMPT): Online research registry for adults who have had genetic panel testing for hereditary cancer to better understand risks associated with certain genetic variants. The study is being conducted by researchers at the University of Pennsylvania, Dana Farber Cancer Center, Memorial Sloan Kettering and Mayo Clinic.

PTEN Hamartoma Tumor Syndrome Foundation: A foundation aiming to raise funds to provide financial assistance to patients and to support PTEN research. This website also has links to several patient resources related to PHTS/Cowden syndrome/BRRS

Tuberous Sclerosis Alliance: Provides information, support, and research resources for individuals with Tuberous Sclerosis and their families as well as clinicians and researchers.

Tuberous Sclerosis Association: Provides information, support, and research resources for individuals with Tuberous Sclerosis and their families as well as clinicians and researchers.

VHL Family Alliance: This group provides information and support resources, including research opportunities for individuals and families with VHL.