Population genetics of neutral mutations in exponentially growing cancer cell populations

TL;DR

This paper derives new population genetics results for the frequency spectrum of neutral mutations in exponentially growing cancer cell populations, aiding the distinction between driver and passenger mutations in cancer genomics.

Contribution

It provides a novel theoretical analysis of neutral mutation frequencies in exponentially growing populations, applicable to cancer genome data interpretation.

Findings

New formula for site frequency spectrum in exponential growth

Theoretical insights into neutral mutation distribution in cancer cells

Framework to distinguish driver from passenger mutations

Abstract

In order to analyze data from cancer genome sequencing projects, we need to be able to distinguish causative, or "driver," mutations from "passenger" mutations that have no selective effect. Toward this end, we prove results concerning the frequency of neutural mutations in exponentially growing multitype branching processes that have been widely used in cancer modeling. Our results yield a simple new population genetics result for the site frequency spectrum of a sample from an exponentially growing population.