Associating somatic mutations to clinical outcomes: a pan-cancer study of survival time.

TitleAssociating somatic mutations to clinical outcomes: a pan-cancer study of survival time.
Publication TypeJournal Article
Year of Publication2019
AuthorsLittle, Paul, Dan-Yu Lin, and Wei Sun
JournalGenome Med
Volume11
Issue1
Pagination37
Date Published2019 05 28
ISSN1756-994X
KeywordsBiomarkers, Tumor, Clonal Evolution, DNA, Neoplasm, Genetic Heterogeneity, Humans, Mutation Rate, Neoplasms, Survival Analysis
Abstract

We developed subclone multiplicity allocation and somatic heterogeneity (SMASH), a new statistical method for intra-tumor heterogeneity (ITH) inference. SMASH is tailored to the purpose of large-scale association studies with one tumor sample per patient. In a pan-cancer study of 14 cancer types, we studied the associations between survival time and ITH quantified by SMASH, together with other features of somatic mutations. Our results show that ITH is associated with survival time in several cancer types and its effect can be modified by other covariates, such as mutation burden. SMASH is available at https://github.com/Sun-lab/SMASH .

DOI10.1186/s13073-019-0643-9
Alternate JournalGenome Med
Original PublicationAssociating somatic mutations to clinical outcomes: a pan-cancer study of survival time.
PubMed ID31138328
PubMed Central IDPMC6540540
Grant ListR01 GM105785 / GM / NIGMS NIH HHS / United States
R01 GM126550 / GM / NIGMS NIH HHS / United States
R01 HG009974 / HG / NHGRI NIH HHS / United States
R21 CA224026 / CA / NCI NIH HHS / United States
P01 CA142538 / CA / NCI NIH HHS / United States