BRCA 1/2 Mutation in Korean Patients With Epithelial Ovarian Cancer

Prevalence Study of Germline and/or Somatic BRCA1/2 Mutation in Korean Patients With High-Grade Serous and/or Endometrioid Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer

PURPOSE: To investigate the prevalence and clinical correlation of the germline BRCA 1/2 mutation in Korean patients with high grade(HG) serous and/or endometrioid epithelial ovarian cancer (EOC).

PATIENTS AND METHODS: In a nationwide case-control study on EOC conducted in Korea between 2010 and 2015, 298 Korean women with HG serous and/or endometrioid EOC were tested for gBRCA 1/2 mutation, regardless of the family history. Mutation screening was performed using the Ion AmpliSeq BRCA 1/2 Panel (Life Technologies, Carlsbad, CA, USA) and Ion PGM platform according to the manufacturer's instructions. Clinical characteristics including survival outcome was assessed in gBRCAm carriers.

Inclusion Criteria:

• women 18 years of age and older with previously untreated, HG serous and/or endometrioid EOC, fallopian tube or primary peritoneal carcinoma who consented to genetic testing between 2010 and 2015

Exclusion Criteria:

• women with mucinous , clear cell, low-grade serous or endometrioid, mixed epithelial adenocarcinoma, undiffereniated carcinoma or malignant brenner's tumor