@article{486810bc30e84354b1cad08f44d9f90d,
title = "Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure",
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.",
keywords = "Chromosomal instability, Colorectal cancer, DNA helicase MCM9, Hereditary mixed polyposis, Primary ovarian failure",
author = "Yael Goldberg and Naama Halpern and Ayala Hubert and Adler, {Samuel N.} and Sherri Cohen and Morasha Plesser-Duvdevani and Orit Pappo and Avraham Shaag and Vardiella Meiner",
note = "Publisher Copyright: {\textcopyright} 2015 Elsevier Inc.",
year = "2015",
month = dec,
day = "1",
doi = "10.1016/j.cancergen.2015.10.001",
language = "אנגלית",
volume = "208",
pages = "621--624",
journal = "Cancer genetics",
issn = "2210-7762",
publisher = "Elsevier BV",
number = "12",
}
