The prevalence of BRCA mutations among familial breast cancer patients in Korea: Results of the Korean Hereditary Breast Cancer study

Familial Cancer

Volumn 12, Issue 1, 2013, Pages 75-81

  Han, Sang Ah ^a   Kim, Sung Won ^b   Kang, Eunyoung ^b   Park, Sue K ^c   Ahn, Sei Hyun ^d   Lee, Min Hyuk ^e   Nam, Seok Jin ^f   Han, Wonshik ^c   Bae, Young Tae ^g   Kim, Hyun Ah ^h   Cho, Young Up ⁱ   Chang, Myung Chul ^j   Paik, Nam Sun ^k   Hwang, Ki Tae ^l   Kim, Sei Joong ⁱ   Noh, Dong Young ^c   Choi, Doo Ho ^f   Noh, Woo Chul ^h   Kim, Lee Su ^m   Kim, Ku Sang ⁿ   Suh, Young Jin ^o   Lee, Jeong Eon ^f   Jung, Yongsik ⁿ   Moon, Byung In ^k   Yang, Jung Hyun ^p   Son, Byung Ho ^d   Yom, Cha Kyong ^b   Kim, Sung Yong ^e   Lee, Hyde ^q   Jung, Sung Hoo ^r   more..

^a Kyung Hee University College of Medicine   (South Korea)

^b Seoul National University Bundang Hospital   (South Korea)

^c Seoul National University   (South Korea)

^d University of Ulsan College of Medicine   (South Korea)

^e Soonchunhyang University   (South Korea)

^f Sungkyunkwan University   (South Korea)

^g Pusan National University Hospital   (South Korea)

^h Korea Cancer Center Hospital   (South Korea)

ⁱ Inha University Hospital   (South Korea)

^j Dankook University   (South Korea)

^k Ewha Womans University   (South Korea)

^l Seoul National University Boramae Hospital   (South Korea)

^m Hallym University   (South Korea)

ⁿ Ajou University School of Medicine   (South Korea)

^o The Catholic University of Korea   (South Korea)

^p Konkuk University Hospital   (South Korea)

^q Yonsei University College of Medicine   (South Korea)

^r Chonbuk National University Medical School   (South Korea)

more..

Author keywords

BRCA1; BRCA2; Hereditary breast neoplasm; Mutation; Prevalence

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER PATIENT; CANCER SCREENING; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; INFORMED CONSENT; KOREA; MAJOR CLINICAL STUDY; MULTIPLE CANCER; OVARY CANCER; PANCREAS CANCER; PREVALENCE; PRIORITY JOURNAL; SECOND DEGREE RELATIVE; THIRD DEGREE RELATIVE;

ADULT; AGED; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MIDDLE AGED; MUTATION; PREVALENCE; REPUBLIC OF KOREA; YOUNG ADULT;

EID: 84873408035     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9578-7     Document Type: Article

References (24)

1. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182):66-71
2. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378(6559):789-792
3. Ahn SH, Hwang UK, Kwak BS, Yoon HS, Ku BK, Kang HJ, Kim JS, Ko BK, Ko CD, Yoon KS, Cho DY, Son BH (2004) Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients. J Korean Med Sci 19(2):269-274. doi: 200404269
4. De Leon Matsuda ML, Liede A, Kwan E, Mapua CA, Cutiongco EM, Tan A, Borg A, Narod SA (2002) BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines. Int J Cancer 98(4):596-603. doi: 10.1002/ijc.10194
5. Hedau S, Jain N, Husain SA, Mandal AK, Ray G, Shahid M, Kant R, Gupta V, Shukla NK, Deo SS, Das BC (2004) Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Res Treat 88(2):177-186. doi: 10.1007/s10549-004-0593-8
6. Khoo US, Chan KY, Cheung AN, Xue WC, Shen DH, Fung KY, Ngan HY, Choy KW, Pang CP, Poon CS, Poon AY, Ozcelik H (2002) Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population. Hum Mutat 19(3):307-308. doi: 10.1002/humu.9015
7. Toh GT, Kang P, Lee SS, Lee DS, Lee SY, Selamat S, Mohd Taib NA, Yoon SY, Yip CH, Teo SH (2008) BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history. PLoS ONE 3(4):e2024. doi: 10.1371/journal.pone.0002024
8. Yassaee VR, Zeinali S, Harirchi I, Jarvandi S, Mohagheghi MA, Hornby DP, Dalton A (2002) Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res 4(4):R6
9. Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y (2011) Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. Breast Cancer Res Treat. doi: 10.1007/s10549-011-1596-x
10. McPherson K, Steel CM, Dixon JM (2000) ABC of breast diseases. Breast cancer-epidemiology, risk factors, and genetics. BMJ 321(7261):624-628
11. Liede A, Narod SA (2002) Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 20(6):413-424. doi: 10.1002/humu.10154
12. Kurian AW (2010) BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Curr Opin Obstet Gynecol 22(1):72-78. doi: 10.1097/GCO.0b013e328332dca3
13. Han SA, Park SK, Ahn SH, Lee MH, Noh DY, Kim LS, Noh WC, Jung Y, Kim KS, Kim SW (2011) The Korean Hereditary Breast Cancer (KOHBRA) study: protocols and interim report. Clin Oncol (R Coll Radiol) 23(7):434-441. doi: 10.1016/j.clon.2010.11.007
14. Ursin G, Henderson BE, Haile RW, Pike MC, Zhou N, Diep A, Bernstein L (1997) Does oral contraceptive use increase the risk of breast cancer in women with BRCA1/BRCA2 mutations more than in other women? Cancer Res 57(17):3678-3681
15. Eng C, Brody LC, Wagner TM, Devilee P, Vijg J, Szabo C, Tavtigian SV, Nathanson KL, Ostrander E, Frank TS (2001) Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet 38(12):824-833
16. Arnold N, Gross E, Schwarz-Boeger U, Pfisterer J, Jonat W, Kiechle M (1999) A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers. Hum Mutat 14(4):333-339. doi: 10.1002/(SICI)1098-1004(199910)14:4<333:AID-HUMU9>3.0.CO;2-C
17. Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC (1998) Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 279(12):915-921
18. NCCN (2011) NCCN Clinical Practice Guidelines in Oncology (NCCN guidelines™), Genetic/Familial High-Risk Assessment:Breast and Ovarian Version I.2011. Available via National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician-gls/pdf/genetics-screening.pdf
19. Easton DF, Steele L, Fields P, Ormiston W, Averill D, Daly PA, McManus R, Neuhausen SL, Ford D, Wooster R, Cannon-Albright LA, Stratton MR, Goldgar DE (1997) Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet 61(1):120-128
20. Ferrone CR, Levine DA, Tang LH, Allen PJ, Jarnagin W, Brennan MF, Offit K, Robson ME (2009) BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. J Clin Oncol 27(3):433-438. doi: 10.1200/JCO.2008.18.5546
21. Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bonelli L, Borgonovo G, Bruno W, Gozza A, Gargiulo S, Mastracci L, Nasti S, Palmieri G, Papadia F, Pastorino L, Russo A, Savarino V, Varesco L, Bernard L, Bianchi Scarra G (2011) Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. Fam Cancer. doi: 10.1007/s10689-011-9483-5
22. Song CG, Hu Z, Yuan WT, Di GH, Shen ZZ, Huang W, Shao ZM (2006) BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23(1):27-31
23. Rashid MU, Zaidi A, Torres D, Sultan F, Benner A, Naqvi B, Shakoori AR, Seidel-Renkert A, Farooq H, Narod S, Amin A, Hamann U (2006) Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int J Cancer 119(12):2832-2839. doi: 10.1002/ijc.22269
24. Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH (2008) Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast cancer res: BCR 10(4):R59. doi: 10.1186/bcr2118