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Mutant Tumor Suppressor Gene ID'd in Mucinous Ovarian Tumors

Thursday, November 1, 2012 (Last Updated: 11/02/2012)

THURSDAY, Nov. 1 (HealthDay News) -- The mutated tumor suppressor gene RNF43 is involved in mucinous ovarian tumors, according to a study published online Oct. 24 in The Journal of Pathology.

Georgina L. Ryland, from the Peter MacCallum Cancer Centre in East Melbourne, Australia, and colleagues performed whole exome sequencing on 12 primary mucinous tumors of the ovary to examine the genetic basis of mucinous tumor development.

The researchers found that one of the most frequently somatically mutated genes was RNF43, which was secondary to KRAS, and mutated at the same frequency as TP53 and BRAF. In a larger cohort of ovarian tumors, further screening identified additional mutations, with a total frequency of 9 percent in mucinous ovarian borderline tumors and 21 percent in mucinous ovarian carcinomas. In silico analysis predicted that seven mutations would truncate the protein and one missense mutation would be deleterious. Allelic imbalance with loss of the wild type allele at the RNF43 locus was noted in six tumors.

"In summary, our findings strongly implicate RNF43 as a candidate tumor suppressor gene in ovarian tumors of mucinous histology and raise the possibility that other genetic similarities exist between ovarian and non-ovarian mucinous tumors," the authors write.

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Specialties Hematology & Oncology

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