2025 Spring Symposium: Emerging Frontiers in Cancer Genetics

The ASHG Spring Symposium featured talks about recent developments in cancer genetics and genomics. The presentations cover predicting cancer risk, non-coding variation in cancer, understanding variant function, precision oncology, and new technical innovations.

Session Descriptions 

Day One:

Deciphering Noncoding Regulation

Cancer genomics often focuses on the gain and loss of function variants in protein-coding genes. For this session, we’ll look at the role of non-coding DNA as a cancer driver. The featured talks will include mechanisms for non-coding regulatory regions and the function of some intronic variants. 

Genomics-Aided Precision Oncology

Oncology has been at the forefront of taking a “precision medicine” approach to individual patient care and genetic counseling for risk. In this session, we’ll hear about integrating genomics data into the care of patients, with experience ranging from single centers to nationwide cancer programs. 

Refining Variant Classification in Cancer

In this session, you’ll learn about methods to help classify genetic variants associated with cancer. We will cover methods ranging from mechanistic studies using single-cell RNA-Seq and saturation mutagenesis to more informatic approaches.

Day Two:

Cancer Versus the Immune System

In this session, hear about advances in our understanding of the immune system's role in cancer control. Talks will include how tumors evade immune surveillance and how to predict response to immune checkpoint therapies based on machine learning assessment of tumor variant pathogenicity. 

Innovations in Cancer Genomics and Prediction

Genomic technologies evolve rapidly. This session will focus on cutting-edge techniques in cancer genomics, such as predicting original tumor anatomical location from their mutational pattern, cell-free DNA applications, and single-cell multiomics. 

Polygenic Models of Cancer Risk

Single-point variant estimates of cancer risk can help guide care, but these variants act along with an individual’s other genetic variants. This session will take a broader view of risk assessment, including polygenic risk scores in breast cancer, risk integration in health care, and consideration of multiple population-enriched germline variants.

**Registration free for NIH employees. Members from Resource Limited Countries are entitled to discounted registration. Please contact DigitalPrograms@ashg.org for assistance.