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Examination of Genome-Wide Somatic Mutations

SAMM-logo-1 The SAMM Group, in collaboration with the Core Infrastructure Group, is developing a computational workflow that examines the full set of somatic mutations from tumor samples.

Contact Information: Dr. Brian T. Luke (301)846-5553


Mutation Landscapes

Examining the somatic mutations in tumors yields information about the underlying mutation/repair mechanisms.

gwsm01 A: Lung cancer (NSC)

B: Lung cancer (SC)

C: Malignant Melanoma (GWS)

D: Melanoma (EWS)

E: HGMD

F: 1000 Genomes

These landscapes demonstrate that the mutation/repair mechanism is very similar between tumors
from the same tissue or origin, and between genome-wide sequencing (GWS) and exone-wide sequencing (EWS).

This methodology has been recently used to identify an APOBEC3B mutation signature in breast cancer
[Burns et al. APOBEC3B is an enzymatic source of mutation in breast cancer. Nature 2013:494:366-370].