Hereditary breast cancer in Korea: A review of the literature

Journal of Breast Cancer

Volumn 11, Issue 1, 2008, Pages 1-9

  Byung, Ho Son ^a   Sei, Hyun Ahn ^a   Min, Hyuk Lee ^b   Sue, Kyung Park ^c   Kim, Sung Won ^d,e  

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

^b Soonchunhyang University College of Medicine   (South Korea)

^c Seoul National University College of Medicine   (South Korea)

^d Seoul National University Bundang Hospital   (South Korea)

^e Target Molecule Study Group   (South Korea)

Author keywords

BRCA1; BRCA2; Founder mutation; Korean hereditary breast cancer; Prevalence

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

BREAST CANCER; FAMILIAL CANCER; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; KOREA; MASTECTOMY; NONSENSE MUTATION; OVARIECTOMY; OVARY CANCER; PHENOTYPE; REVIEW;

EID: 70350680578     PISSN: 17386756     EISSN: None     Source Type: Journal    
DOI: 10.4048/jbc.2008.11.1.1     Document Type: Review

References (63)

1. Daly PA. Hereditary cancer: guidelines in clinical practice-general overview. Ann Oncol 2004;15(Suppl):iv121-5.
2. Clinical Practice Guidelines in Oncology. Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer. 2007. National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician-gls/PDF/genetics-screening. pdf. accessed March 13, 2008.
3. American Society of Clinical Oncology. American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility. J Clin Oncol 2003;21:2397-2406
4. U.S. Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 2005;143:355-361
5. Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines. 1999. American College of Medical Genetics Foundation. http://www.health.state.ny.us/nysdoh/cancer/obcancer/contents.htm. accessed March 13, 2008.
6. 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
7. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71. (Pubitemid 24345325)
8. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378:789-792 (Pubitemid 26004412)
9. Breast Cancer Information Core Database: National Human Genome Research Institute, National Institutes of Health. http://www.nhgri.nih.gov/projects/bic/ . accessed Feb 23, 2008.
10. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002;94:1365-1372
11. Thompson D, Easton DF; Breast Cancer Linkage Consortium. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002;94:1358-1365
12. Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995;56:265-271
13. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994;343:692-695
14. Ford D, Easton DF. The genetics of breast and ovarian cancer. Br J Cancer 1995;72:805-812
15. Easton DF, Bishop DT, Ford D, Crockford GP. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1993;52:678-701.
16. Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 2004;22:735-742
17. Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene 2004;23:6445-6470 (Pubitemid 39265509)
18. Liede A, Narod SA. Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 2002;20:413-424 (Pubitemid 35453558)
19. Neuhausen SL. Founder populations and their uses for breast cancer genetics. Breast Cancer Res 2000;2:77-81.
20. Neuhausen S, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 1996;13:126-128
21. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995;11:198-200.
22. Tonin P, Weber B, Offit K, Couch F, Rebbeck TR, Neuhausen S, et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 1996;2:1179-1183
23. Phelan CM, Kwan E, Jack E, Li S, Morgan C, Aube J, et al. A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families. Hum Mutat 2002;20:352-357
24. Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999;91:1241-1247
25. Thorlacius S, Struewing JP, Hartge P, Olafsdottir GH, Sigvaldason H, Tryggvadottir L, et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 1998;352:1337-1339 (Pubitemid 28510913)
26. Oh JH, Noh DY, Choe KJ, Kang SB, Kim LS, Ro MS, et al. Germline mutation of BRCA1 gene in Korean breast and ovarian cancer patients. J Korean Cancer Ass 1995;27:1061-1069
27. 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;20:235-239
28. Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol 2004;22:1638-1645
29. Seo JH, Cho DY, Ahn SH, Yoon KS, Kang CS, Cho HM, et al. BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. Hum Mutat 2004;24:350.
30. Ahn SH, Hwang UK, Kwak BS, Yoon HS, Ku BK, Kang HJ, et al. Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients. J Korean Med Sci 2004;19:269-274
31. Ahn SH, Son BH, Yoon KS, Noh DY, Han W, Kim SW, et al. BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. Cancer Lett 2007;245:90-95
32. Han SH, Lee KR, Lee DG, Kim BY, Lee KE, Chung WS. Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. Clin Genet 2006;70:496-501.
33. Kim BY, Lee DG, Lee KR, Han SH, Surendran S, Han CW, et al. Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC. Biochem Biophys Res Commun 2006;349:604-610
34. 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
35. Cho J, Kim SW, Kim S, Choi YS, Ko E, Lee JW, et al. Analysis of BRCA1 and BRCA2 germline mutations in high-risk Korean breast cancer patients. Global Breast Cancer Conference 2007. Proceeding. Abstract #01-013.
36. Son BH, Ahn SH, Kim HJ, Lee JS, Park EH, Choi SL, et al. Basla-like cytokeratin expression profiles of Korean hereditary breast cancers having BRCA gene mutation. Global Breast Cancer Conference 2007. Proceeding. Abstract #01-012.
37. Son B, Ahn S, Kim H, Hong S, Lee J, Jung M, et al. BRCA1/2 associated Korean breast cancer has more often ER/c-erbB2 negative phenotype. 25th Congress of the International Association for Breast Cancer Research. Proceeding. Abstract #46.
38. Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC. Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 1998;279:915-921
39. Kim SW, Lee CS, Fey JV, Borgen PI, Boyd J. Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases. J Med Genet 2005;42:e5.
40. BRCA mutation prevalence tables. Data last updated: spring 2006. Myriad Genetic Laborctories. http://www.myriadtests.com/provider/brca-mutation- prevalence.htm.accessed March 13, 2008.
41. Szabo CS, King MC. Population genetics of BRCA1 and BRCA2. Am J Hum Genet 1997;60:1013-1020
42. Son BH, Kwak BS, Kim JK, Kim HJ, Hong SJ, Lee JS, et al. Changing patterns in the clinical characteristics of Korean breast cancer patients over the last 15 years. Arch Surg 2006;141:155-160
43. Ahn SH, Yoo KY, Korean Breast Cancer Society. Chronological changes of clinical characteristics in 31,115 new breast cancer patients among Koreans during 1996-2000. Breast Cancer Res Treat 2006;99:209-214
44. Golshan M, Miron A, Nixon AJ, Garber JE, Cash EP, Iglehart JD, et al. The prevalence of germline BRCA1 and BRCA2 mutations in young women with breast cancer undergoing breast-conservation therapy. Am J Surg 2006;192:58-62.
45. Kim SW, Ahn SH, Son BH, Lee MH, Choi DH, Noh DY, et al. Cancer risk estimates for Korean BRCA1 and BRCA2 mutation carriers. Global Breast Cancer Conference 2007. Proceeding. Abstract#01-011.
46. Unger MA, Nathanson KL, Calzone K, Antin-Ozerkis D, Shih HA, Martin AM, et al. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 2000;67:841-850
47. Iau PT, Macmillan RD, Blamey RW. Germ line mutations associated with breast cancer susceptibility. Eur J Cancer 2001;37:300-321 (Pubitemid 32182319)
48. Nathanson KL, Weber BL. "Other"breast cancer susceptibility genes: searching for more holy grail. Hum Mol Genet 2001;10:715-720
49. Lacroix M, Leclercq G, on behalf of BreastMed Consortium. The "portrait"of hereditary breast cancer. Breast Cancer Res Treat 2005;89:297-304.
50. Weber BL, Nathanson KL. Low penetrance genes associated with increased risk for breast cancer. Eur J Cancer 2000;36:1193-1199 (Pubitemid 30407005)
51. Bonadona V, Lasset C. Inherited predisposition to breast cancer: after the BRCA1 and BRCA2 genes, what next? Bull Cancer 2003;90:587-594
52. Hartmann LC, Schaid DJ, Woods JE, Crotty TP, Myers JL, Arnold PG, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999;340:77-84. (Pubitemid 29054841)
53. Wainberg S, Husted J. Utilization of screening and preventive surgery among unaffected carriers of a BRCA1 or BRCA2 gene mutation. Cancer Epidemiol Biomarkers Prev 2004;13:1989-1995 (Pubitemid 40054290)
54. Kim KS, Kim S, Han SA, Jeon YT, Ha TH, Heo CY, et al. Prophylactic mastectomy and oophorectomy in a BRCA1-positive patient. Global Breast Cancer Conference 2007. Proceeding. Abstract #01-010.
55. Kim KS, Kim SW, Lee MH, Ahn SH, Park SK, Korean Breast Cancer Society. 'Surgeons'practice patterns for management of Hereditary Breast Cancer in Korea. J Breast Cancer 2008 (In press).
56. Jernstrom H, Lubinski J, Lynch HT, Ghadirian P, Neuhausen S, Isaacs C, et al. Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2004;96:1094-1098
57. Narod SA, Dube MP, Klijn J, Lubinski J, Lynch HT, Ghadirian P, et al. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2002;94:1773-1779
58. King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: national Surgical Adjuvant Breast and Bowel Project NSABP-P1) Breast Cancer Prevention Trial. JAMA 2001;286:2251-2256
59. Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 2000;356:1876-1881
60. Scheuer L, Kauff N, Robson M, Kelly B, Barakat R, Satagopan J, et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 2002;20:1260-1268
61. Kriege M, Brekelmans CT, Boetes C, Besnard PE, Zonderland HM, Obdeijn IM, et al. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 2004;351:427-437 (Pubitemid 38988592)
62. Narod SA, Offit K. Prevention and management of hereditary breast cancer. J Clin Oncol 2005;23:1656-1663 (Pubitemid 46211420)
63. Liebens FP, Carly B, Pastijn A, Rozenberg S. Management of BRCA1/2 associated breast cancer: a systematic qualitative review of the state of knowledge in 2006. Eur J Cancer 2007;43:238-257