Jung KW, Won YJ, Kong HJ, Oh CM, Cho H, Lee DH, Lee KH. Cancer statistics in Korea: incidence, mortality, survival, and prevalence in 2012. Cancer Res Treat. 2015;47(2):127–41.
Article
CAS
PubMed
PubMed Central
Google Scholar
Statistics Korea. Korean Statistical Information Service. http://kosis.kr. Accessed 9 May 2016.
Kang E, Seong MW, Park SK, Lee JW, Lee J, Kim LS, Lee JE, Kim SY, Jeong J, Han SA, et al. The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. Breast Cancer Res Treat. 2015;151(1):157–68.
Article
CAS
PubMed
Google Scholar
Ewald IP, Ribeiro PL, Palmero EI, Cossio SL, Giugliani R, Ashton-Prolla P. Genomic rearrangements in BRCA1 and BRCA2: A literature review. Genet Mole Biol. 2009;32(3):437–46.
Article
CAS
Google Scholar
Woodward AM, Davis TA, Silva AG, Kirk JA, Leary JA. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet. 2005;42(5):e31.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sluiter MD, van Rensburg EJ. Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Res Treat. 2011;125(2):325–49.
Article
CAS
PubMed
Google Scholar
Engert S, Wappenschmidt B, Betz B, Kast K, Kutsche M, Hellebrand H, Goecke TO, Kiechle M, Niederacher D, Schmutzler RK, et al. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases. Hum Mutat. 2008;29(7):948–58.
Article
CAS
PubMed
Google Scholar
NCCN Guidelines® Genetic/Familial High-Risk Assessment: Breast and Ovarian. National Comprehensive Cancer Network. http://www.nccn.org/. Accessed 9 May 2016.
James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, et al. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam Cancer. 2015;14(2):287–95.
Article
CAS
PubMed
Google Scholar
Park J, Jang W, Chae H, Kim Y, Chi HY, Kim M. Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening. Ann Lab Med. 2016;36(2):197–201.
Article
CAS
PubMed
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.
Article
PubMed
PubMed Central
Google Scholar
Cho JY, Cho DY, Ahn SH, Choi SY, Shin I, Park HG, Lee JW, Kim HJ, Yu JH, Ko BS, et al. Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea. Fam Cancer. 2014;13(2):205–11.
Article
CAS
PubMed
Google Scholar
Seong MW, Cho SI, Noh DY, Han W, Kim SW, Park CM, Park HW, Kim SY, Kim JY, Park SS. Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population. Fam Cancer. 2009;8(4):505–8.
Article
CAS
PubMed
Google Scholar
Seong MW, Cho SI, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Choi DH, Yom CK, et al. A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients. BMC Cancer. 2014;14:645.
Article
PubMed
PubMed Central
Google Scholar
Berry DA, Iversen Jr ES, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002;20(11):2701–12.
Article
CAS
PubMed
Google Scholar
Gadzicki D, Evans DG, Harris H, Julian-Reynier C, Nippert I, Schmidtke J, Tibben A, van Asperen CJ, Schlegelberger B. Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet. 2011;2(2):53–69.
Article
PubMed
PubMed Central
Google Scholar
Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998;62(1):145–58.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kang E, Park SK, Lee JW, Kim Z, Noh WC, Jung Y, Yang JH, Jung SH, Kim SW. KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients. J Hum Genet. 2016;61(5):365–71.
Article
PubMed
Google Scholar
Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, Santarosa M, Dillon KJ, Hickson I, Knights C, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005;434(7035):917–21.
Article
CAS
PubMed
Google Scholar