Mutations in MCM9, which encodes DNA helicase, were recently shown to cause a clinical phenotype of
primary ovarian failure and chromosomal instability. MCM9 plays an essential role
in homologous recombination-mediated double-strand break repair. We describe a multiplex
family with early colorectal carcinoma and mixed polyposis associated with primary
hypergonadotropic hypogonadism. A combination of whole genome homozygosity mapping
as well as exome sequencing and targeted gene sequencing identified a homozygous c.672_673delGGinsC
mutation that predicts a truncated protein, p.Glu225Lysfs*4. Our data expand the phenotypic
spectrum of MCM9 mutations and suggest a link between MCM9 and inherited predisposition to mixed polyposis and early-onset colorectal cancer.
Keywords
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Article info
Publication history
Published online: October 14, 2015
Accepted:
October 5,
2015
Received in revised form:
October 4,
2015
Received:
July 10,
2015
Identification
Copyright
© 2015 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
