Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure

Y Goldberg, N Halpern, A Hubert, SN Adler, S Cohen… - Cancer genetics, 2015 - Elsevier
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 …