Principal Investigator: Dr Gilad Evrony
New York University School of Medicine (USA)Tags: 50529, cancer, mosaicism, Somatic mutation
In every population there are families in which many members of the family have cancer. These families usually are found to have mutations in genes that correct or prevent errors in DNA. However, most cancers occur sporadically in individuals in whom their families do not have such a familial predisposition to cancer. Even though these individuals do not come from families with exceptional rates of cancer, they might still have mutations in genes that cause a slightly elevated rather than a highly elevated mutation rate. With the UK Biobank data, we now have an opportunity to detect these slightly elevated levels of DNA mutation in the general population, and what might cause those mutations, to understand why sporadic cancer might occur even when it strikes families without a strong history of cancer. This study might help us eventually be able to predict for each person, many years before cancer might happen, whether they have a slightly higher or lower risk of cancer. Most importantly, this may lead to better approaches for early cancer detection and treatment.
Project extension – January 2020
The goal of this project is to understand the degree to which somatic mutations are variable in the UK Biobank population, and which factors might explain this variability. The three aims of this project are: 1) Quantify somatic mutation rates across the UK Biobank whole-exome sequencing cohort using an analytic pipeline with high specificity for detecting somatic mutations in bulk data; 2) Assess correlations between somatic mutation rates with germline genetic variants, environmental factors, and cancer incidence; 3) Investigate imaging data of participants, especially brain MRI, and their subsequent clinical records to investigate whether very early tumors can be detected prior to clinical diagnosis and whether these findings correlate with general somatic mutation rates and oncogenic somatic mutations in blood.
Last updated Feb 14, 2020