Inherited mutyh mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

HIGHLIGHTS

• who: Philip S. Robinson from the Department University of Cambridge , QQ, UK have published the research: Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells, in the Journal: NATURE COMMUNICATIONS NATURE COMMUNICATIONS
• what: This study shows elevated base substitution somatic mutation rates due to SBS18 and/or SBS36 in normal tissues from individuals with MUTYH mutations.

SUMMARY

Colorectal adenomas and carcinomas from individuals with MAP show a predominance of C > A mutations consistent with the presence of an elevated mutation rate attributed to defective . . .

 



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