Abstract

Abstract Objective: Hereditary Breast Ovarian Cancer (HBOC) is genetic malignancy associated with BRCA1/2 genes. Selecting confirmative tests for target population are not clearly defined and expensive. We undertook this study to find the detection rate of HBOC among Korean ovarian carcinoma patients based on family history and immunohistochemistry right after by surgeon. Methods: This study examined 22 patients diagnosed with ovarian carcinomas by single surgeon and counselor. All patients were provided genetic counseling based on immunohistochemistry (IHC) of mismatch repair genes (BRCA1, BRCA2) and 1st, 2nd 3 rd relatives' family history of cancer. Additionally, direct full sequencing to verify germ line mutations was performed to all patients after consent. Results: Median age was 54.Preop CA 125 was 1824(37.71∼16009). There were 3 refusals after counseling. Patients with family cancer history were 3/21(14%). The number of patients with negative IHC results for BRCA1/BRCA2 was 9 and 6.Both negative patients were 3/21(14%). Both normal staining patients were 4/21(19%). There were 3/19 patients (16%) with germ line mutations (two BRCA1 and one BRCA2).Variation of unknown significance mutation patients were 5/19(26%). Conclusion: Our data indicate approximately 17% of patients have a germ line mutation in this study group. Active genetic counseling by surgeon with IHC and family history can help detect HBOC among ovarian carcinoma patients. Citation Format: Min Kyu Kim, Soo Youn Bae, Jee Yeon Lee. Genetic cancer incidence. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 1303. doi:10.1158/1538-7445.AM2014-1303

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