Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure
作者： Yael Goldberg , Naama Halpern , Ayala Hubert , Samuel N. Adler , Sherri Cohen
DOI: 10.1016/J.CANCERGEN.2015.10.001
关键词:
摘要: 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 homologous recombination-mediated double-strand break repair. We describe multiplex family with early colorectal carcinoma mixed polyposis associated hypergonadotropic hypogonadism. A combination whole genome homozygosity mapping as well exome sequencing targeted gene identified homozygous c.672_673delGGinsC mutation that predicts truncated protein, p.Glu225Lysfs*4. Our data expand the phenotypic spectrum mutations suggest link between inherited predisposition early-onset cancer.
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