한국인유전성유방/난소암고위험군에서난소암의 유병률 (The Prevalence of Ovarian Cancer in Korean Women at High-Risk for Hereditary Breast-Ovarian Cancer)

서지정보

· 발행기관 : 한국유방암학회
· 수록지 정보 : Journal of Breast Cancer / 14권 / 24 ~ 30페이지
· 저자명 : 이지현, 배영태, 안세현, 김성원, 조영업, 정성후, 장명철, 한세환, 강은영, 박보영, 박수경, 이희대, 정준, 이병길, 황기태, 김현아, 김은규, 백남선, 윤찬석, 한국유방암학회, 이민혁

초록

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.

영어초록

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.

참고자료

· 없음