Research Registry for People with Mutations in Genes Other Than BRCA1 or BRCA2

To accelerate research and better manage care for people at risk for hereditary cancer, Memorial Sloan Kettering is collaborating with other academic research institutions and commercial laboratories to build a Prospective Registry of MultiPlex Testing (PROMPT).

Established in the fall of 2014, the registry is made possible in part by recent advances in the use of multigene panels (also called multiplex genetic testing or panel testing) to identify alterations in a number of different genes that increase the risk of cancer.

Multiplex genetic testing looks for inherited mutations in many different genes, including:

  • ATM. Mutations in this gene are associated with an increased risk for breast cancer. Children with two mutations develop the childhood nervous system disease ataxia-telangiectasia (AT).
  • CDH1. Mutations in this gene are associated with increased risk for breast cancer and hereditary diffuse gastric cancer.
  • CHEK2. Mutations in this gene are associated with an increased risk for breast cancer.
  • PALB2. Mutations in this gene are associated with an increased risk for breast cancer.
  • PTEN. Mutations in this gene are associated with Cowden disease (also called Cowden syndrome), which is associated with an increased risk for breast, uterine, and other cancers.
  • RAD51C. Mutations in this gene are associated with an increased risk for ovarian cancer and possibly breast cancer, as well as the childhood disease Fanconi’s anemia.
  • RAD51D. Mutations in this gene are associated with an increased risk for breast and ovarian cancer.

  • STK11. Mutations in this gene are associated with Peutz-Jeghers syndrome (PJS), or hamartomatous intestinal polyposis, as well as an increased risk of breast and other cancers.
  • TP53. Mutations in this gene are associated with an increased risk for cancers related to Li-Fraumeni syndrome (LFS).

Some test panels also look for mutations in genes for which little information is yet known, such as the genes NBN, RAD50, BARD1, BRiP1, and MRE11.

The PROMPT registry will collect data from individuals and their families around the country whose multigene panel test results indicate they carry mutations in one or more of these or other genes, and who have agreed to have their health status monitored.

By analyzing this information, physicians and researchers will be better able to study uncommon or rare gene variants. They will also be able to explore more effective ways to help these individuals and their families manage their risk for developing cancer.

What are the benefits of joining?

In addition to knowing that you are participating in a community that helps address these cancer research questions, as a PROMPT participant you will have access to curated research information, and in some cases, updates from the study coordinators on questions that may be of particular interest to you.

What is involved in joining?

We invite people who have undergone multiplex genetic testing and have a mutation in any gene other than BRCA1 or BRCA2 to register at www.promptstudy.org. This website also offers screening and additional information about the genes being studied.

Once registered, you will be asked to fill out questionnaires about your personal and family history of cancer. At each step, you can choose what information you wish to share with doctors and researchers and whether you want identifying information (your name and address, for example) included that could enable the coordinators to contact you directly.

Contact Us

For questions about participating in the PROMPT registry through MSK, please contact us at medprompt@mskcc.org.