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.
References
1. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003. 72:1117–1130.
2. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007. 25:1329–1333.
3. Metcalfe KA, Lynch HT, Ghadirian P, Tung N, Olivotto IA, Foulkes WD, et al. The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecol Oncol. 2005. 96:222–226.
4. Kazerouni N, Greene MH, Lacey JV Jr, Mink PJ, Schairer C. Family history of breast cancer as a risk factor for ovarian cancer in a prospective study. Cancer. 2006. 107:1075–1083.
5. Narod SA, Olsson H. Risk of ovarian cancer in breast-cancer patients with a family history of either. Lancet. 2003. 361:179.
6. Lee JS, John EM, McGuire V, Felberg A, Ostrow KL, DiCioccio RA, et al. Breast and ovarian cancer in relatives of cancer patients, with and without BRCA mutations. Cancer Epidemiol Biomarkers Prev. 2006. 15:359–363.
7. Bergfeldt K, Rydh B, Granath F, Grönberg H, Thalib L, Adami HO, et al. Risk of ovarian cancer in breast-cancer patients with a family history of breast or ovarian cancer: a population-based cohort study. Lancet. 2002. 360:891–894.
8. Kang HC, Kim IJ, Park JH, Kwon HJ, Won YJ, Heo SC, et al. Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. Hum Mutat. 2002. 20:235.
9. Kim TJ, Lee KM, Choi CH, Lee JW, Lee JH, Bae DS, et al. Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families. Oncol Rep. 2006. 15:565–569.
10. Kim YT, Nam EJ, Yoon BS, Kim SW, Kim SH, Kim JH, et al. Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma. Gynecol Oncol. 2005. 99:585–590.
11. Kim EK, Kim KS, Park SK, Ahn SH, Lee MH, Kim SW, et al. The Korean Hereditary Breast Cancer (KOHBRA) Study: protocol review. J Breast Cancer. 2007. 10:241–247.
12. Ministry for Health, Welfare and Family Affairs. Annual report of cancer incidence (2007), cancer prevalence (2007), and survival (1993-2007) in Korea. 2009. Seoul: Ministry for Health, Welfare and Family Affairs.
13. Chung HH, Hwang SY, Jung KW, Won YJ, Shin HR, Kim JW, et al. Ovarian cancer incidence and survival in Korea: 1993-2002. Int J Gynecol Cancer. 2007. 17:595–600.
14. Thompson D, Easton D. Breast Cancer Linkage Consortium. Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev. 2002. 11:329–336.
15. Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet. 1995. 11:428–433.
16. Thompson D, Easton D. Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001. 68:410–419.
17. Boyd J, Sonoda Y, Federici MG, Bogomolniy F, Rhei E, Maresco DL, et al. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA. 2000. 283:2260–2265.
18. Sagawa T, Yamashita Y, Fujimoto T, Yamada H, Hoshi N, Sakuragi N, et al. Clinicopathological comparisons of familial and sporadic cases in 219 consecutive Japanese epithelial ovarian cancer patients. Jpn J Clin Oncol. 1999. 29:556–561.
19. Sueblinvong T, Carney ME. Current understanding of risk factors for ovarian cancer. Curr Treat Options Oncol. 2009. 10:67–81.
20. Rieck G, Fiander A. The effect of lifestyle factors on gynaecological cancer. Best Pract Res Clin Obstet Gynaecol. 2006. 20:227–251.
21. McLaughlin JR, Risch HA, Lubinski J, Moller P, Ghadirian P, Lynch H, et al. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol. 2007. 8:26–34.
22. Olivier RI, Lubsen-Brandsma MA, Verhoef S, van Beurden M. CA125 and transvaginal ultrasound monitoring in high-risk women cannot prevent the diagnosis of advanced ovarian cancer. Gynecol Oncol. 2006. 100:20–26.
23. van der Velde NM, Mourits MJ, Arts HJ, de Vries J, Leegte BK, Dijkhuis G, et al. Time to stop ovarian cancer screening in BRCA1/2 mutation carriers? Int J Cancer. 2009. 124:919–923.
24. Hermsen BB, Olivier RI, Verheijen RH, van Beurden M, de Hullu JA, Massuger LF, et al. No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers: an observational follow-up study. Br J Cancer. 2007. 96:1335–1342.