Rare Cancer Webinar Series
The National Cancer Institute defines a rare cancer as one that occurs in fewer than 15 out of 100,000 people per year; however, when taken together, rare cancers account for approximately 25% of all cancer cases that are diagnosed each year in the United States. Rare cancers are often associated with poorer outcomes, and large disparities in incidence and mortality rates for certain types have been documented, particularly in terms of race. Examples of rare cancers include: ovarian, pancreatic, esophageal, multiple myeloma, liver, and stomach.
There are numerous challenges to studying rare cancers, and, because of these challenges, there are large gaps in knowledge related to the prevention, diagnosis, and treatment of many types of rare cancers. Thus, the purpose of this webinar series is twofold:
- to highlight work being done to investigate various aspects of rare cancers, including studies on etiology, risk, prognosis, and survivorship; and,
- to better understand the challenges, and strategies to overcome these challenges, related to studying rare cancers.
Past Topics and Speakers
Using the EMERSE Search Tool for Rare Cancer Research
EMERSE, the electronic medical record search engine, is a secure, easy-to-use software tool for non-technical users to identify important concepts within the free text of clinical documents from the medical record. It excels at finding rare mentions of diseases, including identifying cohorts and abstracting phenotypic or other clinical details. With support from the NCI's Informatics Technology for Cancer Research (ITCR) program, EMERSE is being offered at no cost to research teams across the country.
Challenges of Using Registries to Study Rare Cancers
Dianne M. Finkelstein, PhD
Professor of Biostatistics, Harvard T.H. Chan School Of Public Health; Professor of Medicine, Harvard Medical School; Director of Cancer Center Biostatistics at Massachusetts General Hospital
The study of rare cancers is challenging because the populations are sparse. A registry can be useful to provide the patient populations to do clinical trials and observational studies. In this talk, the speaker discussed what is available in a rare cancer genetics registry that launched in 2009 and was funded by NIH for a decade, as well as the challenges and solutions they developed in the context of this project.
Methods for Studying Treatments for Rare Diseases
Joshua Gagne, PharmD, ScD
Associate Professor, Division of Pharmacoepidemiology and Pharmacoeconomics, Brigham and Women's Hospital and Harvard Medical School, Department of Epidemiology, Harvard T.H. Chan School of Public Health
Joshua J. Gagne, PharMD, ScD, is an Associate Professor of Medicine in the Division of Pharmacoepidemiology and Pharmacoeconomics at the Brigham and Women’s Hospital at Harvard Medical School and an Associate Professor in the Department of Epidemiology at the Harvard T.H. Chan School of Public Health. His research centers on the development and application of epidemiologic and statistical methods for rapidly generating comparative effectiveness and safety information for new medical products. In this webinar, he presented on methods for studying treatments for rare diseases.
LiFE – An International Consortium Approach to Researching a Rare Cancer Syndrome
Sharon Sand, CCRP
Clinical Research Administrator, City of Hope
Li-Fraumeni Exploration (LiFE) is the consortium studying Li-Fraumeni Syndrome and carriers of TP53 variants. This webinar described the steps taken to form the consortium, and the subsequent process of assembling data from multiple participating centers at the LiFE Data Coordinating Center (DCC). The DCC investigator and the DCC administrator presented work to date, challenges, successes, outcomes, and practical tips from running and housing the DCC, including transfer of data, defining critical data points and then expanding the data dictionary, managing data transfer agreements, working closely with an advocacy organization, and facilitating data requests. The LiFE Consortium is led by a steering committee of key thought leaders of Li-Fraumeni Syndrome, and includes data from seven participating sites and nearly 1,000 pedigrees with multiple affected cases with cancer history and genetic status.
Recruitment Strategies for Rare Cancer Research Studies
This webinar described different strategies that have been successfully used by investigators to recruit individuals diagnosed with rare or understudied cancers into research studies. Three investigators presented their experiences in studying rare cancers, including their methods of recruiting and maintaining patient/participant engagement.
Micro-RNA Genetic Variation Related to Head and Neck Cancer Risk and Survival
Polymorphisms in microRNAs and their target sites can disrupt microRNA-dependent gene regulation, and have been associated with cancer susceptibility and outcomes. However, genome-scale analyses of genetic variation related to micro-RNA (miR-SNPs) in cancer are lacking and microRNA-related SNPs tend to be in poor linkage with markers genotyped with many platforms used in GWAS approaches. This presentation included results from testing the relation of >40,000 common miR-SNPs with head and neck risk and survival in two independent studies with more than 2,000 total cases and more than 2,000 total controls. In addition, approaches for and results from investigating the functional implications of miR-SNPs on miRNA-mRNA interactions were discussed.