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KMID : 1134120110140000024
Journal of Breast Cancer
2011 Volume.14 No. 0 p.24 ~ p.30
The Prevalence of Ovarian Cancer in Korean Women at High-Risk for Hereditary Breast-Ovarian Cancer
Lee Ji-Hyun

Kang Eun-Young
Kim Sung-Won
Park Bo-Young
Park Sue-Kyung
Ahn Sei-Hyun
Lee Hy-De
Jeong Joon
Jung Sung-Hoo
Lee Byoung-Kil
Chang Myung-Chul
Bae Young-Tae
Cho Young-Up
Hwang Ki-Tae
Kim Hyun-Ah
Kim Eun-Kyu
Paik Nam-Sun
Han Se-Hwan
Yoon Chan-Seok
Lee Min-Hyuk
Abstract
Purpose: Few studies have reported ovarian cancer risks in Korean patients with the BRCA1/2 mutation. We investigated the prevalence of ovarian cancer in Korean women at high risk for hereditary breast-ovarian cancer (HBOC) syndrome and reviewed the clinicopathological factors of ovarian cancer.

Methods: Female subjects who were enrolled in the Korean Hereditary Breast Cancer study were included. The questionnaire included a personal and family history of cancer. The BRCA1/2 mutation and CA-125 level were tested at the time of enrollment. A transvaginal ultrasonogram (TVUS) was recommended for subjects with an elevated CA-125 level.

Results: A total of 1,689 patients were included. No ovarian cancer was newly diagnosed by CA-125 level or TVUS during the enrollment. The prevalence of ovarian cancer was 1.71% in BRCA1/2 mutation carriers and 0.39% in non-carriers. Among 11 patients with ovarian cancer, five had the BRCA1 mutation and one had the BRCA2 mutation. The most common histopathological type was serous cystadenocarcinoma. No difference in clinicopathological findings between BRCA1/2 mutation carriers and non-carriers was observed.

Conclusion: The prevalence of ovarian cancer was 58-fold elevated in women at high-risk for HBOC syndrome and 146-fold elevated in the BRCA1 subgroup, compared with the Korean general population. Further investigation with a long-term follow-up is required to evaluate BRCA1/2 gene penetrance.
KEYWORD
BRCA1/2 mutation, Ovarian neoplasms, Prevalence
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