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Overview
The National Cancer Institute (NCI) held a virtual meeting on February 7-8, 2023, Variation to Biology: Optimizing Functional Analysis of Cancer Risk Variants, to identify and discuss how best to address scientific challenges and opportunities for understanding the path from genetic variation to cancer phenotype.
Research conducted over the past 15+ years has identified thousands of common genetic variants that associate with risk for cancer. Because most of these variants have small effect sizes and are located in non-protein coding regions of the genome, understanding how they impact molecular mechanisms and the biology underlying cancer risk is challenging.
Purpose
The main goal for this meeting was to convene participants to identify and discuss challenges to using genetic association data to discover and understand the mechanisms underlying cancer risk and how they ultimately lead to cancer, and consider ways that NCI could help optimize progress in this area.
Meeting Organizers
- Stefanie A. Nelson, PhD (Chair), Genomic Epidemiology Branch, Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, NCI
- Kevin Brown, PhD, Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, NCI
- Danielle M. Carrick, PhD, MHS, Genomic Epidemiology Branch, Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, NCI
- Danielle Daee, PhD, Genomic Epidemiology Branch, Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, NCI
- Ian Fingerman, PhD, DNA and Chromosome Aberrations Branch, Division of Cancer Biology, NCI
- Elizabeth M. Gillanders, PhD, Genomic Epidemiology Branch, Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, NCI
- Alexander Gusev, PhD, Dana-Farber Cancer Institute
- Alvaro Monteiro, PhD, Moffitt Cancer Center
- Lea Starita, PhD, Department of Genome Sciences, University of Washington
- Amanda E. Toland, PhD, The Ohio State University Comprehensive Cancer Center
Agenda
View agenda for February 7, 2023
| Tuesday, February 7 | Topic |
|---|---|
| 12:00 p.m. - 12:10 p.m. | Introduction and opening remarks Dr. Katrina Goddard, Director |
| 12:10 p.m. - 12:30 p.m. | When is a variant truly characterized? Dr. Alvaro Monteiro, Session Organizer |
| 12:30 p.m. - 12:50 p.m. | Developing and standardizing variant to biology databases and computational tools Dr. Alvaro Monteiro, Session Organizer |
| 12:50 p.m. - 1:10 p.m. | Optimization, adoption, and implementation of high throughput assays Dr. Kevin Brown, Session Organizer Dr. Doug Fowler Dr. Jiyeon Choi |
| 1:10 p.m. - 1:40 p.m. | Break |
| 1:40 p.m. - 1:45 p.m. | Instructions for Breakout sessions |
| 1:45 p.m. - 3:00 p.m. | Breakout Sessions
|
| 3:00 p.m. - 3:15 p.m. | Break |
| 3:15 p.m. - 4:15 p.m. |
Report back and discussion Watch this Session
|
View agenda for Februrary 8, 2023
| Wednesday, February 8 | Topic |
|---|---|
| 12:00 p.m. - 12:20 p.m. | Considerations for use of models for understanding variant function Dr. Amanda Toland, Session Organizer Dr. Lea Starita Dr. Li Yi |
| 12:20 p.m. - 12:40 p.m. | Creating and improving large multidisciplinary collaborations Dr. Lea Starita, Session Organizer Dr. Mike Pazin |
| 12:40 p.m. - 1:00 p.m. | Diversity in data and assays Dr. Alvaro Monteiro, Session Organizer Dr. Luis Carvajal-Carmona Dr. Laura Fejerman |
| 1:00 p.m. - 1:30 p.m. | Break |
| 1:30 p.m. - 2:45 p.m. | Breakout sessions
|
| 2:45 p.m. - 3:05 p.m. | Break |
| 3:05 p.m. - 3:50 p.m. | Report back and discussion |
| 3:50 p.m. - 4:00 p.m. | Closing remarks Dr. Stephen Chanock, Director |
Contact
Contact If you have any questions about this meeting, please submit them via email to NCIEpiCommunications@mail.nih.gov.