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

Yael Goldberg, Naama Halpern, Ayala Hubert, Samuel N. Adler, Sherri Cohen, Morasha Plesser-Duvdevani, Orit Pappo, Avraham Shaag, Vardiella Meiner

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)621-624
Number of pages4
JournalCancer genetics
Volume208
Issue number12
DOIs
StatePublished - 1 Dec 2015
Externally publishedYes

Keywords

  • Chromosomal instability
  • Colorectal cancer
  • DNA helicase MCM9
  • Hereditary mixed polyposis
  • Primary ovarian failure

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