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Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes

International Journal of Cancer May 09, 2019

Tian W, et al. - Because inherited genetic changes are significant etiological factors that result in endometrial cancer (EC), researchers focused on the ethnic-associated prevalence as well as the associated clinical and biological features of germline mutations in cancer predisposition genes in Chinese EC patients. Of 198 Chinese EC patients screened, germline genetic mutations (all involving mismatch repair genes except for one mutation influencing BRCA1) were present in 26% (18/69) of patients under 50 years of age. They identified distinct clinical phenotypes were demonstrated by a family carrying pathogenic variants in both PMS2 and BRCA1 genes. On the basis of clinical information and tumor phenotype, multigene panel testing should be advised to patients. According to the findings, EC has genetic complexity.

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