Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei.

Mei Sim LungCatherine A MitchellMaria A DoyleAndrew C LynchKylie L GorringeDavid D L Bowtellnull nullIan G CampbellAlison H Trainer

Published in: BMC cancer (2020)

Germline exome sequencing of a father and daughter with AMTs identified novel candidate predisposing genes. Further studies are required to clarify the role of these genes in familial AMTs.

Keyphrases

low grade
genome wide
dna repair
bioinformatics analysis
genome wide identification
copy number
case report
genome wide analysis
dna damage
gene expression
oxidative stress