메뉴 건너뛰기




Volumn 18, Issue 5, 2012, Pages 436-442

Genetic determinants of breast cancer risk: A review of current literature and issues pertaining to clinical application

Author keywords

breast cancer; genetic risk; risk reduction

Indexed keywords

ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER MORTALITY; CANCER REGRESSION; CANCER RISK; CLINICAL FEATURE; FAMILIAL CANCER; FAMILY HISTORY; GENETIC ASSOCIATION; HUMAN;

EID: 84866083952     PISSN: 1075122X     EISSN: 15244741     Source Type: Journal    
DOI: 10.1111/j.1524-4741.2012.01274.x     Document Type: Article
Times cited : (37)

References (46)
  • 2
    • 0024801278 scopus 로고
    • Projecting individualized probabilities of developing breast cancer for white females who are being examined annually
    • Gail MH, Brinton LA, Byar DP, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989; 81: 1879-86.
    • (1989) J Natl Cancer Inst , vol.81 , pp. 1879-1886
    • Gail, M.H.1    Brinton, L.A.2    Byar, D.P.3
  • 3
    • 0027731939 scopus 로고
    • The calculation of breast cancer risk for women with a first degree family history of ovarian cancer
    • Claus EB, Risch N, Thompson WD,. The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res Treat 1993; 28: 115-20.
    • (1993) Breast Cancer Res Treat , vol.28 , pp. 115-120
    • Claus, E.B.1    Risch, N.2    Thompson, W.D.3
  • 4
    • 0025613812 scopus 로고
    • Linkage of early-onset familial breast cancer to chromosome 17q21
    • Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990; 250: 1684-9.
    • (1990) Science , vol.250 , pp. 1684-1689
    • Hall, J.M.1    Lee, M.K.2    Newman, B.3
  • 5
    • 0029125296 scopus 로고
    • Inherited breast and ovarian cancer
    • Spec No:1811-1817
    • Szabo CI, King MC,. Inherited breast and ovarian cancer. Hum Mol Genet 1995; 4: 1811-7. Spec No:1811-1817.
    • (1995) Hum Mol Genet , vol.4 , pp. 1811-1817
    • Szabo, C.I.1    King, M.C.2
  • 6
    • 56249103144 scopus 로고    scopus 로고
    • Inherited susceptibility to common cancers
    • Foulkes WD,. Inherited susceptibility to common cancers. N Engl J Med 2008; 359: 2143-53.
    • (2008) N Engl J Med , vol.359 , pp. 2143-2153
    • Foulkes, W.D.1
  • 8
    • 0033281771 scopus 로고    scopus 로고
    • How many more breast cancer susceptibility genes are there?
    • Easton DF,. How many more breast cancer susceptibility genes are there? Breast Cancer Res 1999; 1: 14-7.
    • (1999) Breast Cancer Res , vol.1 , pp. 14-17
    • Easton, D.F.1
  • 9
    • 9144251028 scopus 로고    scopus 로고
    • The genetic epidemiology of breast cancer genes
    • Thompson D, Easton D,. The genetic epidemiology of breast cancer genes. J Mamm Gland Biol Neoplasia 2004; 9: 221-36.
    • (2004) J Mamm Gland Biol Neoplasia , vol.9 , pp. 221-236
    • Thompson, D.1    Easton, D.2
  • 10
    • 58149331121 scopus 로고    scopus 로고
    • Genetic susceptibility loci for breast cancer by estrogen receptor status
    • Garcia-Closas M, Chanock S,. Genetic susceptibility loci for breast cancer by estrogen receptor status. Clin Cancer Res 2008; 14: 8000-9.
    • (2008) Clin Cancer Res , vol.14 , pp. 8000-8009
    • Garcia-Closas, M.1    Chanock, S.2
  • 11
    • 45949085378 scopus 로고    scopus 로고
    • Polygenes, risk prediction, and targeted prevention of breast cancer
    • Pharoah PD, Antoniou A, Easton D, Ponder BA,. Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med 2008; 358: 2796-803.
    • (2008) N Engl J Med , vol.358 , pp. 2796-2803
    • Pharoah, P.D.1    Antoniou, A.2    Easton, D.3    Ponder, B.A.4
  • 13
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004; 431: 931-45.
    • (2004) Nature , vol.431 , pp. 931-945
  • 14
    • 33847337318 scopus 로고    scopus 로고
    • A common coding variant in CASP8 is associated with breast cancer risk
    • Cox A, Dunning A, Garcia-Closas M, et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007; 39: 352-8.
    • (2007) Nat Genet , vol.39 , pp. 352-358
    • Cox, A.1    Dunning, A.2    Garcia-Closas, M.3
  • 15
    • 23844512858 scopus 로고    scopus 로고
    • NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: Results from the Spanish Bladder Cancer Study and meta-analyses
    • Garcia-Closas M, Malats N, Silverman D, et al. NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. Lancet 2005; 366: 649-59.
    • (2005) Lancet , vol.366 , pp. 649-659
    • Garcia-Closas, M.1    Malats, N.2    Silverman, D.3
  • 16
    • 34250006413 scopus 로고    scopus 로고
    • Genome-wide association study identifies novel breast cancer susceptibility loci
    • Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447: 1087-93.
    • (2007) Nature , vol.447 , pp. 1087-1093
    • Easton, D.F.1    Pooley, K.A.2    Dunning, A.M.3
  • 17
    • 34250001297 scopus 로고    scopus 로고
    • A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
    • Hunter DJ, Kraft P, Jacobs KB, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007; 39: 870-4.
    • (2007) Nat Genet , vol.39 , pp. 870-874
    • Hunter, D.J.1    Kraft, P.2    Jacobs, K.B.3
  • 18
    • 43249123378 scopus 로고    scopus 로고
    • Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
    • Garcia-Closas M, Hall P, Nevanlinna H, et al. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet 2008; 4: e1000054.
    • (2008) PLoS Genet , vol.4
    • Garcia-Closas, M.1    Hall, P.2    Nevanlinna, H.3
  • 19
    • 0034641918 scopus 로고    scopus 로고
    • The biochemistry of apoptosis
    • Hengartner MO,. The biochemistry of apoptosis. Nature 2000; 407: 770-6.
    • (2000) Nature , vol.407 , pp. 770-776
    • Hengartner, M.O.1
  • 20
    • 77954387572 scopus 로고    scopus 로고
    • Familial risk of cancer and knowledge and use of genetic testing
    • Baer HJ, Brawarsky P, Murray MF, Haas JS,. Familial risk of cancer and knowledge and use of genetic testing. J Gen Intern Med 2010; 25: 717-24.
    • (2010) J Gen Intern Med , vol.25 , pp. 717-724
    • Baer, H.J.1    Brawarsky, P.2    Murray, M.F.3    Haas, J.S.4
  • 21
    • 75649097841 scopus 로고    scopus 로고
    • Cancer genetic risk assessment and referral patterns in primary care
    • Vig HS, Armstrong J, Egleston BL, et al. Cancer genetic risk assessment and referral patterns in primary care. Genet Test Mol Biomarkers 2009; 13: 735-41.
    • (2009) Genet Test Mol Biomarkers , vol.13 , pp. 735-741
    • Vig, H.S.1    Armstrong, J.2    Egleston, B.L.3
  • 22
    • 34548511568 scopus 로고    scopus 로고
    • How often do BRCA mutation carriers tell their young children of the family's risk for cancer? A study of parental disclosure of BRCA mutations to minors and young adults
    • Bradbury AR, Dignam JJ, Ibe CN, et al. How often do BRCA mutation carriers tell their young children of the family's risk for cancer? A study of parental disclosure of BRCA mutations to minors and young adults. J Clin Oncol 2007; 25: 3705-11.
    • (2007) J Clin Oncol , vol.25 , pp. 3705-3711
    • Bradbury, A.R.1    Dignam, J.J.2    Ibe, C.N.3
  • 23
    • 79958170452 scopus 로고    scopus 로고
    • Controversies in communication of genetic risk for hereditary breast cancer
    • Mackenzie A, Patrick-Miller L, Bradbury AR,. Controversies in communication of genetic risk for hereditary breast cancer. Breast J. 2009; 15 (Suppl. 1): S25-32.
    • (2009) Breast J. , vol.15 , Issue.SUPPL. 1
    • MacKenzie, A.1    Patrick-Miller, L.2    Bradbury, A.R.3
  • 24
    • 39749170470 scopus 로고    scopus 로고
    • Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspring
    • Bradbury AR, Patrick-Miller L, Pawlowski K, et al. Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspring. Am J Med Genet C Semin Med Genet. 2008; 148C: 70-7.
    • (2008) Am J Med Genet C Semin Med Genet. , vol.148 C , pp. 70-77
    • Bradbury, A.R.1    Patrick-Miller, L.2    Pawlowski, K.3
  • 25
    • 40949154795 scopus 로고    scopus 로고
    • Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 and BRCA2 mutation carriers
    • Bradbury AR, Ibe CN, Dignam JJ, et al. Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 and BRCA2 mutation carriers. Genet Med 2008; 10: 161-6.
    • (2008) Genet Med , vol.10 , pp. 161-166
    • Bradbury, A.R.1    Ibe, C.N.2    Dignam, J.J.3
  • 26
    • 77649208372 scopus 로고    scopus 로고
    • American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility
    • Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K,. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol 2010; 28: 893-901.
    • (2010) J Clin Oncol , vol.28 , pp. 893-901
    • Robson, M.E.1    Storm, C.D.2    Weitzel, J.3    Wollins, D.S.4    Offit, K.5
  • 27
    • 0038501057 scopus 로고    scopus 로고
    • American Society of Clinical Oncology Policy Statement Update: Genetic testing for cancer susceptibility
    • American Society of Clinical Oncology
    • American Society of Clinical Oncology. American Society of Clinical Oncology Policy Statement Update: Genetic testing for cancer susceptibility. J Clin Oncol 2003; 21: 2397-406.
    • (2003) J Clin Oncol , vol.21 , pp. 2397-2406
  • 28
    • 34047137002 scopus 로고    scopus 로고
    • American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography
    • Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 2007; 57: 75-89.
    • (2007) CA Cancer J Clin , vol.57 , pp. 75-89
    • Saslow, D.1    Boetes, C.2    Burke, W.3
  • 29
    • 0036605379 scopus 로고    scopus 로고
    • BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes
    • Berry DA, Iversen ES Jr, Gudbjartsson DF, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol 2002; 20: 2701-12.
    • (2002) J Clin Oncol , vol.20 , pp. 2701-2712
    • Berry, D.A.1    Iversen, Jr.E.S.2    Gudbjartsson, D.F.3
  • 30
    • 0028330276 scopus 로고
    • Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
    • Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE,. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343: 692-5.
    • (1994) Lancet , vol.343 , pp. 692-695
    • Ford, D.1    Easton, D.F.2    Bishop, D.T.3    Narod, S.A.4    Goldgar, D.E.5
  • 31
    • 0030910022 scopus 로고    scopus 로고
    • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
    • Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997; 336: 1401-8.
    • (1997) N Engl J Med , vol.336 , pp. 1401-1408
    • Struewing, J.P.1    Hartge, P.2    Wacholder, S.3
  • 32
    • 33646445514 scopus 로고    scopus 로고
    • Pregnancies, Breast-Feeding and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)
    • Andrieu N, Goldgar DE, Easton DF, et al. Pregnancies, Breast-Feeding and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst 2006; 98: 535-44.
    • (2006) J Natl Cancer Inst , vol.98 , pp. 535-544
    • Andrieu, N.1    Goldgar, D.E.2    Easton, D.F.3
  • 33
    • 48349120930 scopus 로고    scopus 로고
    • Use of association studies to define genetic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
    • Hughes DJ,. Use of association studies to define genetic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Fam Cancer 2008; 7: 233-44.
    • (2008) Fam Cancer , vol.7 , pp. 233-244
    • Hughes, D.J.1
  • 34
    • 4444333964 scopus 로고    scopus 로고
    • Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    • Jernström H, Lubinsky J, Lynch HT, et al. Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2004; 96: 1094-8.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 1094-1098
    • Jernström, H.1    Lubinsky, J.2    Lynch, H.T.3
  • 35
    • 72449127102 scopus 로고    scopus 로고
    • Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
    • Milne RL, Osorio A, Ramn y Cajal T, et al. Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 2010; 119: 221-32.
    • (2010) Breast Cancer Res Treat , vol.119 , pp. 221-232
    • Milne, R.L.1    Osorio, A.2    Ramn Cajal Y, T.3
  • 36
    • 0037021659 scopus 로고    scopus 로고
    • Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    • Narod SA, Dubé MP, Klijn J, et al. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2002; 94: 1773-9.
    • (2002) J Natl Cancer Inst , vol.94 , pp. 1773-1779
    • Narod, S.A.1    Dubé, M.P.2    Klijn, J.3
  • 37
    • 0035797528 scopus 로고    scopus 로고
    • Relative frequency and morphology of cancers in carriers of germline mutations
    • Birch JM, Alston RD, McNally RJ, et al. Relative frequency and morphology of cancers in carriers of germline mutations. Oncogene 2001; 20: 4621-8.
    • (2001) Oncogene , vol.20 , pp. 4621-4628
    • Birch, J.M.1    Alston, R.D.2    McNally, R.J.3
  • 39
  • 40
    • 33744782567 scopus 로고    scopus 로고
    • Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
    • Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006; 12: 3209-15.
    • (2006) Clin Cancer Res , vol.12 , pp. 3209-3215
    • Hearle, N.1    Schumacher, V.2    Menko, F.H.3
  • 41
    • 77953020608 scopus 로고    scopus 로고
    • E-cadherin polymorphisms and breast cancer susceptibility: A report from the Shanghai Breast Cancer Study
    • Oct 16 (Epub ahead of print)
    • Beeghly-Fadiel A, Lu W, Gao Y, et al. E-cadherin polymorphisms and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study. Breast Cancer Res Treat 2010; 121: 445-52. Oct 16 (Epub ahead of print).
    • (2010) Breast Cancer Res Treat , vol.121 , pp. 445-452
    • Beeghly-Fadiel, A.1    Lu, W.2    Gao, Y.3
  • 42
    • 33746491583 scopus 로고    scopus 로고
    • ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    • Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006; 38: 873-5.
    • (2006) Nat Genet , vol.38 , pp. 873-875
    • Renwick, A.1    Thompson, D.2    Seal, S.3
  • 43
    • 18544389716 scopus 로고    scopus 로고
    • Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. the CHEK2-Breast Cancer Consortium
    • Meijers-Heijboer H, van den Ouweland A, Klijn J, et al. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. The CHEK2-Breast Cancer Consortium. Nat Genet 2002; 31: 55-9.
    • (2002) Nat Genet , vol.31 , pp. 55-59
    • Meijers-Heijboer, H.1    Van Den Ouweland, A.2    Klijn, J.3
  • 44
    • 63149093147 scopus 로고    scopus 로고
    • Clinical implications of low-penetrance breast cancer susceptibility alleles
    • Freisinger F, Domcheck SM,. Clinical implications of low-penetrance breast cancer susceptibility alleles. Curr Oncol Rep 2009; 11: 8-14.
    • (2009) Curr Oncol Rep , vol.11 , pp. 8-14
    • Freisinger, F.1    Domcheck, S.M.2
  • 45
    • 33750465216 scopus 로고    scopus 로고
    • Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
    • Seal S, Thompson D, Renwick A, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006; 38: 1239-41.
    • (2006) Nat Genet , vol.38 , pp. 1239-1241
    • Seal, S.1    Thompson, D.2    Renwick, A.3
  • 46
    • 77955774595 scopus 로고    scopus 로고
    • Five common single nucleotide polymorphisms in the PALB2 gene and susceptibility to breast cancer in eastern Chinese population
    • Cao AY, Yu KD, Yin WJ, et al. Five common single nucleotide polymorphisms in the PALB2 gene and susceptibility to breast cancer in eastern Chinese population. Breast Cancer Res Treat 2010; 123: 133-8.
    • (2010) Breast Cancer Res Treat , vol.123 , pp. 133-138
    • Cao, A.Y.1    Yu, K.D.2    Yin, W.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.