Chunxiao Li

Mutations in homologous recombination repair genes in patients with metastatic endometrial cancer: association with clinical characteristics and prognosis

To evaluate the mutation rates of homologous recombination repair (HRR) genes and the impact of these mutations on the clinical characteristics of metastatic endometrial cancer (EC). Somatic DNA from 895 patients with metastatic EC in the Memorial Sloan Kettering-Metastatic Events and Tropisms cohort was assessed for mutations in 10 HRR genes ( Somatic mutations in HRR genes were detected in 106 (11.8%) patients with metastatic EC. Compared with nonmutation carriers, a greater proportion of carriers had endometrioid carcinoma (76.4% vs. 50.3%, p<0.001). Regarding the TCGA classification, the proportions of the Somatic HRR mutations are detected in 11.8% of metastatic EC. Compared with noncarriers, HRR mutation carriers in metastatic EC have higher proportions of endometrioid carcinoma,