Article
Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure.
Cancer genetics - 1 Dec 2015
Goldberg Yael, Halpern Naama, Hubert Ayala, Adler Samuel N, Cohen Sherri, Plesser-Duvdevani Morasha, Pappo Orit, Shaag Avraham, Meiner Vardiella
Abstract excerpt
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...
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