One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding

© 2014 The Korean Society of Pathologists/The Korean Society for Cytopathology This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/ by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. pISSN 1738-1843 eISSN 2092-8920 Ovarian cancer is one of the most lethal gynecological cancers in the Western world. In 2012, approximately 2,000 new patients and 980 mortalities due to ovarian cancer were reported in Korea. Due to the lack of efficient diagnostic methods for early detection and rapid progression to advanced stages, patients with ovarian cancer have poor survival rates. As hereditary ovarian cancers tend to present as higher grade disease in younger patients, screening for hereditary ovarian cancer is important for decreasing prevalence and improving patient survival. BRCA1 and BRCA2 are mismatch repair genes accounting for 85% of hereditary breast and epithelial ovarian cancers. They are located on chromosomes 17q21 (22 exons, 80-kb DNA) and 13q12-13 (26 exons, 70-kb DNA), respectively. Other mismatch repair genes also contribute to carcinogenesis. The average lifetime risk of developing breast and ovarian cancers in women with a BRCA1 mutation are 65% and 39%, respectively, and the corresponding estimates for BRCA2 are 45% and 11%, respectively. Three methods are commonly used to manage BRCA mutation carriers: screening, prophylactic surgery, and chemoprevention. Salpingo-oophorectomy in carriers of BRCA mutations can decrease the risk of breast cancer and BRCA-related gynecologic cancer. We report a case of germ line BRCA1 mutation in an ovarian cancer patient without a family history of breast cancer detected with immunohistochemistry screening. We carried out gene sequencing for BRCA1 and BRCA2 after a constructive counseling with the patient and detected a deletion of ATTG GGCA at codon 1824 in exon 24 of the BRCA1 gene.