Cancer susceptibility gene mutations in type I and II endometrial cancer
Gynecologic Oncology Jan 23, 2019
Long B, et al. - Patients with endometrial cancer (EC) subtypes were investigated for the incidence of germline cancer predisposition gene mutations. They performed germline panel testing on 1,170 cases of EC; 849 (72.6%) were type I and 321 (27.4%) were type II EC, including 135 (11.5%) uterine serous cancers (USC). They identified BRCA1/2 mutations in 0.93% and 0.12% of type I and type II EC, respectively. Cancer predisposition gene mutations were observed in 4–6% of EC patients, emphasizing that somatic mutation testing for all EC patients should be considered. Lynch Syndrome (LS) mutations were noted in similar frequency in type I and type II EC.
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