메뉴 건너뛰기




Volumn 93, Issue 2, 2013, Pages 341-362

Genetic Predisposition Syndromes and Their Management

Author keywords

Breast neoplasms; Cancer predisposition syndromes; Gene mutation; Genetic counseling; Risk assessment; Risk management

Indexed keywords

CISPLATIN; DOCETAXEL; OLAPARIB; PACLITAXEL; TAMOXIFEN;

EID: 84875287730     PISSN: 00396109     EISSN: 15583171     Source Type: Journal    
DOI: 10.1016/j.suc.2013.01.005     Document Type: Review
Times cited : (22)

References (138)
  • 1
  • 2
    • 0002781574 scopus 로고
    • Versuche über Pflanzenhybriden Verh
    • Mendel G. Versuche über Pflanzenhybriden Verh. Naturforscher-Verein Brünn 1865, 4:3-47.
    • (1865) Naturforscher-Verein Brünn , vol.4 , pp. 3-47
    • Mendel, G.1
  • 3
    • 0001217489 scopus 로고
    • Ueber die chemische Zusammensetzung der Eiterzellen
    • Miescher F. Ueber die chemische Zusammensetzung der Eiterzellen. Medicinisch-Chemische Untersuchungen 1871, 4:441-460.
    • (1871) Medicinisch-Chemische Untersuchungen , vol.4 , pp. 441-460
    • Miescher, F.1
  • 4
    • 84983711696 scopus 로고
    • Studies on the chemical nature of the substance inducing transformation of pneumococcal types: induction of transformation by a desoxyribonucleic acid fraction isolated from pneumococcus type III
    • Avery O.T., MacLeod C.M., McCarty M. Studies on the chemical nature of the substance inducing transformation of pneumococcal types: induction of transformation by a desoxyribonucleic acid fraction isolated from pneumococcus type III. J Exp Med 1944, 79:137-158.
    • (1944) J Exp Med , vol.79 , pp. 137-158
    • Avery, O.T.1    MacLeod, C.M.2    McCarty, M.3
  • 5
    • 0026320277 scopus 로고
    • Report of the Committee on the Genetic Constitution of Chromosome 17
    • Solomon E., Ledbetter D.H. Report of the Committee on the Genetic Constitution of Chromosome 17. Cytogenet Cell Genet 1991, 58:686-738.
    • (1991) Cytogenet Cell Genet , vol.58 , pp. 686-738
    • Solomon, E.1    Ledbetter, D.H.2
  • 6
    • 0025613812 scopus 로고
    • Linkage of early-onset familial breast cancer to chromosome 17q21
    • Hall J.M., Lee M.K., Newman B., et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990, 250:1684-1690.
    • (1990) Science , vol.250 , pp. 1684-1690
    • Hall, J.M.1    Lee, M.K.2    Newman, B.3
  • 8
    • 0025633582 scopus 로고
    • Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
    • Malkin D., Li F.P., Strong L.C., et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990, 250:1233-1238.
    • (1990) Science , vol.250 , pp. 1233-1238
    • Malkin, D.1    Li, F.P.2    Strong, L.C.3
  • 9
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    • Miki Y., Swensen J., Shattuck-Eidens D., et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266(5182):66-71.
    • (1994) Science , vol.266 , Issue.5182 , pp. 66-71
    • Miki, Y.1    Swensen, J.2    Shattuck-Eidens, D.3
  • 10
    • 0028006563 scopus 로고
    • Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
    • Wooster R., Neuhausen S.L., Mangion J., et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994, 265(5181):2088-2090.
    • (1994) Science , vol.265 , Issue.5181 , pp. 2088-2090
    • Wooster, R.1    Neuhausen, S.L.2    Mangion, J.3
  • 11
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Wooster R., Bignell G., Lancaster J., et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995, 378:789-792.
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3
  • 12
    • 13344269668 scopus 로고    scopus 로고
    • The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
    • Tavtigian S.V., Simard J., Rommens J., et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 1996, 12:333-337.
    • (1996) Nat Genet , vol.12 , pp. 333-337
    • Tavtigian, S.V.1    Simard, J.2    Rommens, J.3
  • 13
    • 0037268338 scopus 로고    scopus 로고
    • The Fanconi anemia/BRCA pathway
    • D'Andrea A.D., Grompe M. The Fanconi anemia/BRCA pathway. Nat Rev Cancer 2003, 3:23-34.
    • (2003) Nat Rev Cancer , vol.3 , pp. 23-34
    • D'Andrea, A.D.1    Grompe, M.2
  • 14
    • 79952741549 scopus 로고    scopus 로고
    • Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    • Casadei S., Norquist B.M., Walsh T., et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 2011, 71:2222-2229.
    • (2011) Cancer Res , vol.71 , pp. 2222-2229
    • Casadei, S.1    Norquist, B.M.2    Walsh, T.3
  • 15
    • 33846967455 scopus 로고    scopus 로고
    • Disruption of the Fanconi anemia pathway in human cancer in the general population
    • Jacquemont C., Taniguchi T. Disruption of the Fanconi anemia pathway in human cancer in the general population. Cancer Biol Ther 2006, 5:1637-1639.
    • (2006) Cancer Biol Ther , vol.5 , pp. 1637-1639
    • Jacquemont, C.1    Taniguchi, T.2
  • 16
    • 33747884830 scopus 로고    scopus 로고
    • RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
    • Heikkinen K., Rapakko K., Karppinen S.M., et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006, 27:1593-1599.
    • (2006) Carcinogenesis , vol.27 , pp. 1593-1599
    • Heikkinen, K.1    Rapakko, K.2    Karppinen, S.M.3
  • 17
    • 51649108664 scopus 로고    scopus 로고
    • A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function
    • De Nicolo A., Tancredi M., Lombardi G., et al. A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. Clin Cancer Res 2008, 14:4672-4680.
    • (2008) Clin Cancer Res , vol.14 , pp. 4672-4680
    • De Nicolo, A.1    Tancredi, M.2    Lombardi, G.3
  • 18
    • 0033601346 scopus 로고    scopus 로고
    • Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
    • Bell D.W., Varley J.M., Szydlo T.E., et al. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999, 286:2528-2531.
    • (1999) Science , vol.286 , pp. 2528-2531
    • Bell, D.W.1    Varley, J.M.2    Szydlo, T.E.3
  • 19
    • 0034596343 scopus 로고    scopus 로고
    • High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families
    • Borg å., Sandberg T., Nilsson K., et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000, 92:1260-1266.
    • (2000) J Natl Cancer Inst , vol.92 , pp. 1260-1266
    • Borg, å.1    Sandberg, T.2    Nilsson, K.3
  • 20
    • 58149229703 scopus 로고    scopus 로고
    • Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families
    • de Snoo F.A., Bishop D.T., Bergman W., et al. Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res 2008, 14:7151-7157.
    • (2008) Clin Cancer Res , vol.14 , pp. 7151-7157
    • de Snoo, F.A.1    Bishop, D.T.2    Bergman, W.3
  • 21
    • 84866070660 scopus 로고    scopus 로고
    • Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome
    • Mester J., Eng C. Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med 2012, 14(9):819-822.
    • (2012) Genet Med , vol.14 , Issue.9 , pp. 819-822
    • Mester, J.1    Eng, C.2
  • 22
    • 6844252284 scopus 로고    scopus 로고
    • Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
    • Marsh D.J., Coulon V., Lunetta K.L., et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998, 7:507-515.
    • (1998) Hum Mol Genet , vol.7 , pp. 507-515
    • Marsh, D.J.1    Coulon, V.2    Lunetta, K.L.3
  • 23
    • 77956110372 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
    • Fitzgerald R.C., Hardwick R., Huntsman D., et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 2010, 47:436-444.
    • (2010) J Med Genet , vol.47 , pp. 436-444
    • Fitzgerald, R.C.1    Hardwick, R.2    Huntsman, D.3
  • 24
    • 46449107403 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer: association with lobular breast cancer
    • Schrader K.A., Masciari S., Boyd N., et al. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer 2008, 7:73-82.
    • (2008) Fam Cancer , vol.7 , pp. 73-82
    • Schrader, K.A.1    Masciari, S.2    Boyd, N.3
  • 25
    • 33744782567 scopus 로고    scopus 로고
    • Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
    • Hearle N., Schumacher V., Menko F.H., et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006, 12:3209-3215.
    • (2006) Clin Cancer Res , vol.12 , pp. 3209-3215
    • Hearle, N.1    Schumacher, V.2    Menko, F.H.3
  • 26
    • 0037033733 scopus 로고    scopus 로고
    • A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
    • Antoniou A.C., Pharoah P.D., McMullan G., et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 2002, 86:76-83.
    • (2002) Br J Cancer , vol.86 , pp. 76-83
    • Antoniou, A.C.1    Pharoah, P.D.2    McMullan, G.3
  • 27
    • 79953086387 scopus 로고    scopus 로고
    • Founder BRCA1/2 mutations in Europe: implications for hereditary breast-ovarian cancer prevention and control
    • Janavicius R. Founder BRCA1/2 mutations in Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J 2010, 1:397-412.
    • (2010) EPMA J , vol.1 , pp. 397-412
    • Janavicius, R.1
  • 28
    • 2542449310 scopus 로고    scopus 로고
    • Frequency of CHEK2*1100delC in New York breast cancer cases and controls
    • Offit K., Pierce H., Kirchhoff T., et al. Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet 2003, 4:1-4.
    • (2003) BMC Med Genet , vol.4 , pp. 1-4
    • Offit, K.1    Pierce, H.2    Kirchhoff, T.3
  • 29
    • 18444379055 scopus 로고    scopus 로고
    • A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer
    • Vahteristo P., Bartkova J., Eerola H., et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 2002, 71:432-438.
    • (2002) Am J Hum Genet , vol.71 , pp. 432-438
    • Vahteristo, P.1    Bartkova, J.2    Eerola, H.3
  • 30
    • 34250006413 scopus 로고    scopus 로고
    • Genome-wide association study identifies novel breast cancer susceptibility loci
    • Easton D.F., Pooley K.A., Dunning A.M., et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007, 447:1087-1093.
    • (2007) Nature , vol.447 , pp. 1087-1093
    • Easton, D.F.1    Pooley, K.A.2    Dunning, A.M.3
  • 31
    • 45949085378 scopus 로고    scopus 로고
    • Polygenes, risk prediction, and targeted prevention of breast cancer
    • Pharoah P.D., Antoniou A.C., Easton D.F., et al. Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med 2008, 358:2796-2803.
    • (2008) N Engl J Med , vol.358 , pp. 2796-2803
    • Pharoah, P.D.1    Antoniou, A.C.2    Easton, D.F.3
  • 32
    • 78649980806 scopus 로고    scopus 로고
    • Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction
    • Antoniou A.C., Beesley J., McGuffog L., et al. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res 2010, 70:9742-9754.
    • (2010) Cancer Res , vol.70 , pp. 9742-9754
    • Antoniou, A.C.1    Beesley, J.2    McGuffog, L.3
  • 33
    • 80055117035 scopus 로고    scopus 로고
    • Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    • Mulligan A.M., Couch F.J., Barrowdale D., et al. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res 2011, 13:R110.
    • (2011) Breast Cancer Res , vol.13
    • Mulligan, A.M.1    Couch, F.J.2    Barrowdale, D.3
  • 34
    • 85172053875 scopus 로고    scopus 로고
    • Current variant of uncertain significance rates in BRCA1/2 and Lynch syndrome testing (MLH1, MSH2, MSH6, PMS2, EpCam). American College of Medical Genetics Annual Clinical Genetics Meeting. Charlotte, March 27-31
    • Eggington JM, Burbridge LA, Roa B, et al. Current variant of uncertain significance rates in BRCA1/2 and Lynch syndrome testing (MLH1, MSH2, MSH6, PMS2, EpCam). American College of Medical Genetics Annual Clinical Genetics Meeting. Charlotte, March 27-31, 2012.
    • (2012)
    • Eggington, J.M.1    Burbridge, L.A.2    Roa, B.3
  • 35
    • 0037087536 scopus 로고    scopus 로고
    • Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals
    • Frank T.S., Deffenbaugh A.M., Reid J.E., et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002, 20:1480-1490.
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 36
    • 35348834779 scopus 로고    scopus 로고
    • A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    • Easton D.F., Deffenbaugh A.M., Pruss D., et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007, 81:873-883.
    • (2007) Am J Hum Genet , vol.81 , pp. 873-883
    • Easton, D.F.1    Deffenbaugh, A.M.2    Pruss, D.3
  • 37
    • 26844544418 scopus 로고    scopus 로고
    • Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry
    • Nanda R., Schumm L.P., Cummings S., et al. Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA 2005, 294:1925-1933.
    • (2005) JAMA , vol.294 , pp. 1925-1933
    • Nanda, R.1    Schumm, L.P.2    Cummings, S.3
  • 38
    • 22244470367 scopus 로고    scopus 로고
    • Prevalence of BRCA mutations and founder effect in high-risk Hispanic families
    • Weitzel J.N., Lagos V., Blazer K.R., et al. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 2005, 14:1666-1671.
    • (2005) Cancer Epidemiol Biomarkers Prev , vol.14 , pp. 1666-1671
    • Weitzel, J.N.1    Lagos, V.2    Blazer, K.R.3
  • 39
    • 84862255120 scopus 로고    scopus 로고
    • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers
    • Finkelman B.S., Rubinstein W.S., Friedman S., et al. Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. J Clin Oncol 2012, 30:1321-1328.
    • (2012) J Clin Oncol , vol.30 , pp. 1321-1328
    • Finkelman, B.S.1    Rubinstein, W.S.2    Friedman, S.3
  • 40
    • 84867884099 scopus 로고    scopus 로고
    • Clinical significance of large rearrangements in BRCA1 and BRCA2
    • Judkins T., Rosenthal E., Arnell C., et al. Clinical significance of large rearrangements in BRCA1 and BRCA2. Cancer 2012, 118(21):5210-5216.
    • (2012) Cancer , vol.118 , Issue.21 , pp. 5210-5216
    • Judkins, T.1    Rosenthal, E.2    Arnell, C.3
  • 41
    • 84863615237 scopus 로고    scopus 로고
    • Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors
    • Riley B.D., Culver J.O., Skrzynia C., et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 2012, 21:151-161.
    • (2012) J Genet Couns , vol.21 , pp. 151-161
    • Riley, B.D.1    Culver, J.O.2    Skrzynia, C.3
  • 42
    • 85172067967 scopus 로고    scopus 로고
    • National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian, NCCN Clinical Practice Guidelines in Oncology v.1.2012. Fort Washington (PA): Available at:. Accessed February 1, 2013.
    • National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian, NCCN Clinical Practice Guidelines in Oncology v.1.2012. Fort Washington (PA): 2012. Available at:. Accessed February 1, 2013. http://www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf.
    • (2012)
  • 43
    • 0031029633 scopus 로고    scopus 로고
    • Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history
    • Berry D.A., Parmigiani G., Sanchez S., et al. Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 1997, 89:227-238.
    • (1997) J Natl Cancer Inst , vol.89 , pp. 227-238
    • Berry, D.A.1    Parmigiani, G.2    Sanchez, S.3
  • 44
    • 1842680082 scopus 로고    scopus 로고
    • A breast cancer prediction model incorporating familial and personal risk factors
    • [Erratum appears in Stat Med 2005;24(1):156]
    • Tyrer J., Duffy S.W., Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 2004, 23:1111-1130. [Erratum appears in Stat Med 2005;24(1):156].
    • (2004) Stat Med , vol.23 , pp. 1111-1130
    • Tyrer, J.1    Duffy, S.W.2    Cuzick, J.3
  • 45
    • 85172044048 scopus 로고    scopus 로고
    • Cancer Gene Available at:. Accessed February 1, 2013.
    • Euhus DM. Cancer Gene 2012. Available at:. Accessed February 1, 2013. http://www4.utsouthwestern.edu/breasthealth/cagene.
    • (2012)
    • Euhus, D.M.1
  • 46
    • 85172043268 scopus 로고    scopus 로고
    • Cleveland Clinic. Risk calculator for estimating a patient's risk for PTEN mutation. Available at:. Accessed February 1, 2013.
    • Cleveland Clinic. Risk calculator for estimating a patient's risk for PTEN mutation. 2012. Available at:. Accessed February 1, 2013. http://www.lerner.ccf.org/gmi/ccscore/index.php.
    • (2012)
  • 47
    • 34848873795 scopus 로고    scopus 로고
    • Validity of models for predicting BRCA1 and BRCA2 mutations
    • [Summary for patients in Ann Intern Med 2007;147(7):I38; PMID: 17909202]
    • Parmigiani G., Chen S., Iversen E.S., et al. Validity of models for predicting BRCA1 and BRCA2 mutations. Ann Intern Med 2007, 147:441-450. [Summary for patients in Ann Intern Med 2007;147(7):I38; PMID: 17909202].
    • (2007) Ann Intern Med , vol.147 , pp. 441-450
    • Parmigiani, G.1    Chen, S.2    Iversen, E.S.3
  • 48
    • 0037024450 scopus 로고    scopus 로고
    • Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO
    • Euhus D.M., Smith K.C., Robinson L., et al. Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. J Natl Cancer Inst 2002, 94:844-851.
    • (2002) J Natl Cancer Inst , vol.94 , pp. 844-851
    • Euhus, D.M.1    Smith, K.C.2    Robinson, L.3
  • 49
    • 77952963484 scopus 로고    scopus 로고
    • Primary care physicians' use of family history for cancer risk assessment
    • Flynn B.S., Wood M.E., Ashikaga T., et al. Primary care physicians' use of family history for cancer risk assessment. BMC Fam Pract 2010, 11:45.
    • (2010) BMC Fam Pract , vol.11 , pp. 45
    • Flynn, B.S.1    Wood, M.E.2    Ashikaga, T.3
  • 50
    • 77951443902 scopus 로고    scopus 로고
    • Further development and evaluation of a breast/ovarian cancer genetics referral screening tool
    • Bellcross C. Further development and evaluation of a breast/ovarian cancer genetics referral screening tool. Genet Med 2010, 12:240.
    • (2010) Genet Med , vol.12 , pp. 240
    • Bellcross, C.1
  • 51
    • 73849147443 scopus 로고    scopus 로고
    • Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population
    • Bellcross C.A., Lemke A.A., Pape L.S., et al. Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genet Med 2009, 11:783-789.
    • (2009) Genet Med , vol.11 , pp. 783-789
    • Bellcross, C.A.1    Lemke, A.A.2    Pape, L.S.3
  • 52
    • 34247565199 scopus 로고    scopus 로고
    • Prevalence of BRCA1 mutations in triple negative breast cancer
    • [abstract 508]
    • Kandel M.J., Stadler Z., Masciari S., et al. Prevalence of BRCA1 mutations in triple negative breast cancer. J Clin Oncol 2006, 24:5s. [abstract 508].
    • (2006) J Clin Oncol , vol.24
    • Kandel, M.J.1    Stadler, Z.2    Masciari, S.3
  • 53
    • 17344365851 scopus 로고    scopus 로고
    • Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families: the breast cancer linkage consortium
    • Ford D., Easton D.F., Stratton M., et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families: the breast cancer linkage consortium. Am J Hum Genet 1998, 62:676-689.
    • (1998) Am J Hum Genet , vol.62 , pp. 676-689
    • Ford, D.1    Easton, D.F.2    Stratton, M.3
  • 54
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in series unselected for family history: a combined analysis of 22 studies
    • Antoniou A., Pharoah P.D., Narod S., et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003, 72:1117-1130.
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3
  • 55
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • King M.C., Marks J.H., Mandell J.B. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302:643-646.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 56
    • 77950132427 scopus 로고    scopus 로고
    • Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families?
    • Panchal S., Bordeleau L., Poll A., et al. Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families?. Clin Genet 2010, 77:273-279.
    • (2010) Clin Genet , vol.77 , pp. 273-279
    • Panchal, S.1    Bordeleau, L.2    Poll, A.3
  • 57
    • 22244467729 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies
    • Antoniou A.C., Pharoah P.D., Narod S., et al. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005, 42:602-603.
    • (2005) J Med Genet , vol.42 , pp. 602-603
    • Antoniou, A.C.1    Pharoah, P.D.2    Narod, S.3
  • 58
    • 23444448778 scopus 로고    scopus 로고
    • Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    • Kotsopoulos J., Lubinski J., Lynch H.T., et al. Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Causes Control 2005, 16:667-674.
    • (2005) Cancer Causes Control , vol.16 , pp. 667-674
    • Kotsopoulos, J.1    Lubinski, J.2    Lynch, H.T.3
  • 59
    • 33645234239 scopus 로고    scopus 로고
    • Influence of selected lifestyle factors on breast and ovarian cancer risk in BRCA1 mutation carriers from Poland
    • Gronwald J., Byrski T., Huzarski T., et al. Influence of selected lifestyle factors on breast and ovarian cancer risk in BRCA1 mutation carriers from Poland. Breast Cancer Res Treat 2006, 95:105-109.
    • (2006) Breast Cancer Res Treat , vol.95 , pp. 105-109
    • Gronwald, J.1    Byrski, T.2    Huzarski, T.3
  • 60
    • 34548436454 scopus 로고    scopus 로고
    • Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    • Kotsopoulos J., Lubinski J., Lynch H.T., et al. Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 2007, 105:221-228.
    • (2007) Breast Cancer Res Treat , vol.105 , pp. 221-228
    • Kotsopoulos, J.1    Lubinski, J.2    Lynch, H.T.3
  • 61
    • 28044451561 scopus 로고    scopus 로고
    • Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers
    • Cullinane C.A., Lubinski J., Neuhausen S.L., et al. Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer 2005, 117:988-991.
    • (2005) Int J Cancer , vol.117 , pp. 988-991
    • Cullinane, C.A.1    Lubinski, J.2    Neuhausen, S.L.3
  • 62
    • 85054327245 scopus 로고    scopus 로고
    • Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    • Jernstrom H., Lubinksi J., Lynch H.T., et al. Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2004, 96:209-214.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 209-214
    • Jernstrom, H.1    Lubinksi, J.2    Lynch, H.T.3
  • 63
    • 53249097506 scopus 로고    scopus 로고
    • Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers
    • Eisen A., Lubinski J., Gronwald J., et al. Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst 2008, 100:1361-1367.
    • (2008) J Natl Cancer Inst , vol.100 , pp. 1361-1367
    • Eisen, A.1    Lubinski, J.2    Gronwald, J.3
  • 64
    • 27944477295 scopus 로고    scopus 로고
    • Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    • Nkondjock A., Ghadirian P., Kotsopoulos J., et al. Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers. Int J Cancer 2006, 118:103-107.
    • (2006) Int J Cancer , vol.118 , pp. 103-107
    • Nkondjock, A.1    Ghadirian, P.2    Kotsopoulos, J.3
  • 65
    • 33746928252 scopus 로고    scopus 로고
    • Diet, lifestyle and BRCA-related breast cancer risk among French-Canadians
    • Nkondjock A., Robidoux A., Paredes Y., et al. Diet, lifestyle and BRCA-related breast cancer risk among French-Canadians. Breast Cancer Res Treat 2006, 98:285-294.
    • (2006) Breast Cancer Res Treat , vol.98 , pp. 285-294
    • Nkondjock, A.1    Robidoux, A.2    Paredes, Y.3
  • 66
    • 56549116174 scopus 로고    scopus 로고
    • Early radiation exposures and BRCA1-associated breast cancer in young women from Poland
    • Gronwald J., Pijpe A., Byrski T., et al. Early radiation exposures and BRCA1-associated breast cancer in young women from Poland. Breast Cancer Res Treat 2008, 112:581-584.
    • (2008) Breast Cancer Res Treat , vol.112 , pp. 581-584
    • Gronwald, J.1    Pijpe, A.2    Byrski, T.3
  • 67
    • 3343014153 scopus 로고    scopus 로고
    • Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition
    • Kriege M., Brekelmans C.T., Boetes C., 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.
    • (2004) N Engl J Med , vol.351 , pp. 427-437
    • Kriege, M.1    Brekelmans, C.T.2    Boetes, C.3
  • 68
    • 19744380352 scopus 로고    scopus 로고
    • Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS)
    • Leach M.O., Boggis C.R., Dixon A.K., et al. Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 2005, 365:1769-1778.
    • (2005) Lancet , vol.365 , pp. 1769-1778
    • Leach, M.O.1    Boggis, C.R.2    Dixon, A.K.3
  • 69
    • 4544230001 scopus 로고    scopus 로고
    • Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination
    • Warner E., Plewes D.B., Hill K.A., et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 2004, 292:1317-1325.
    • (2004) JAMA , vol.292 , pp. 1317-1325
    • Warner, E.1    Plewes, D.B.2    Hill, K.A.3
  • 70
    • 33847195712 scopus 로고    scopus 로고
    • Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results
    • Sardanelli F., Podo F., D'Agnolo G., et al. Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results. Radiology 2007, 242:698-715.
    • (2007) Radiology , vol.242 , pp. 698-715
    • Sardanelli, F.1    Podo, F.2    D'Agnolo, G.3
  • 71
    • 74949100256 scopus 로고    scopus 로고
    • Multimodality screening of high-risk women: a prospective cohort study
    • Weinstein S.P., Localio A.R., Conant E.F., et al. Multimodality screening of high-risk women: a prospective cohort study. J Clin Oncol 2009, 27:6124-6128.
    • (2009) J Clin Oncol , vol.27 , pp. 6124-6128
    • Weinstein, S.P.1    Localio, A.R.2    Conant, E.F.3
  • 72
    • 34547421929 scopus 로고    scopus 로고
    • Sensitivity of MRI versus conventional screening in the diagnosis of BRCA-associated breast cancer in a national prospective series
    • Hagen A.I., Kvistad K.A., Maehle L., et al. Sensitivity of MRI versus conventional screening in the diagnosis of BRCA-associated breast cancer in a national prospective series. Breast 2007, 16:367-374.
    • (2007) Breast , vol.16 , pp. 367-374
    • Hagen, A.I.1    Kvistad, K.A.2    Maehle, L.3
  • 73
    • 77952312239 scopus 로고    scopus 로고
    • Breast cancer detection using automated whole breast ultrasound and mammography in radiographically dense breasts
    • Kelly K., Dean J., Comulada W., et al. Breast cancer detection using automated whole breast ultrasound and mammography in radiographically dense breasts. Eur Radiol 2010, 20:734-742.
    • (2010) Eur Radiol , vol.20 , pp. 734-742
    • Kelly, K.1    Dean, J.2    Comulada, W.3
  • 74
    • 34047137002 scopus 로고    scopus 로고
    • American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography
    • [Erratum appears in CA Cancer J Clin 2007;57(3):185]
    • 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 2010, 57:75-89. [Erratum appears in CA Cancer J Clin 2007;57(3):185].
    • (2010) CA Cancer J Clin , vol.57 , pp. 75-89
    • Saslow, D.1    Boetes, C.2    Burke, W.3
  • 75
    • 0032537990 scopus 로고    scopus 로고
    • Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study
    • Fisher B., Costantino J.P., Wickerham D.L., et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 1998, 90:1371-1388.
    • (1998) J Natl Cancer Inst , vol.90 , pp. 1371-1388
    • Fisher, B.1    Costantino, J.P.2    Wickerham, D.L.3
  • 76
    • 0035861037 scopus 로고    scopus 로고
    • 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
    • King M.C., Wieand S., Hale 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.
    • (2001) JAMA , vol.286 , pp. 2251-2256
    • King, M.C.1    Wieand, S.2    Hale, K.3
  • 77
    • 33644838384 scopus 로고    scopus 로고
    • Optimal selection of individuals for BRCA mutation testing: a comparison of available methods
    • James P.A., Doherty R., Harris M., et al. Optimal selection of individuals for BRCA mutation testing: a comparison of available methods. J Clin Oncol 2006, 24:707-715.
    • (2006) J Clin Oncol , vol.24 , pp. 707-715
    • James, P.A.1    Doherty, R.2    Harris, M.3
  • 78
    • 0036569877 scopus 로고    scopus 로고
    • The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2
    • Lakhani S.R., Van De Vijver M.J., Jacquemier J., et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2002, 20:2310-2318.
    • (2002) J Clin Oncol , vol.20 , pp. 2310-2318
    • Lakhani, S.R.1    Van De Vijver, M.J.2    Jacquemier, J.3
  • 79
    • 0031860462 scopus 로고    scopus 로고
    • BRCA-associated breast cancer in young women
    • Robson M., Gilewski T., Haas B., et al. BRCA-associated breast cancer in young women. J Clin Oncol 1998, 16:1642-1649.
    • (1998) J Clin Oncol , vol.16 , pp. 1642-1649
    • Robson, M.1    Gilewski, T.2    Haas, B.3
  • 80
    • 40749132232 scopus 로고    scopus 로고
    • International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers
    • Metcalfe K.A., Birenbaum-Carmeli D., Lubinski J., et al. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 2008, 122:2017-2022.
    • (2008) Int J Cancer , vol.122 , pp. 2017-2022
    • Metcalfe, K.A.1    Birenbaum-Carmeli, D.2    Lubinski, J.3
  • 81
    • 59049091281 scopus 로고    scopus 로고
    • Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers
    • Rebbeck T.R., Kauff N.D., Domchek S.M. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 2009, 101:80-87.
    • (2009) J Natl Cancer Inst , vol.101 , pp. 80-87
    • Rebbeck, T.R.1    Kauff, N.D.2    Domchek, S.M.3
  • 82
    • 33745881036 scopus 로고    scopus 로고
    • Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation
    • Finch A., Beiner M., Lubinski J., et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. JAMA 2006, 296:185-192.
    • (2006) JAMA , vol.296 , pp. 185-192
    • Finch, A.1    Beiner, M.2    Lubinski, J.3
  • 83
    • 77958488424 scopus 로고    scopus 로고
    • The molecular pathogenesis of hereditary ovarian carcinoma: alterations in the tubal epithelium of women with BRCA1 and BRCA2 mutations
    • Norquist B.M., Garcia R.L., Allison K.H., et al. The molecular pathogenesis of hereditary ovarian carcinoma: alterations in the tubal epithelium of women with BRCA1 and BRCA2 mutations. Cancer 2010, 116:5261-5271.
    • (2010) Cancer , vol.116 , pp. 5261-5271
    • Norquist, B.M.1    Garcia, R.L.2    Allison, K.H.3
  • 84
    • 36048974673 scopus 로고    scopus 로고
    • Lessons from BRCA: the tubal fimbria emerges as an origin for pelvic serous cancer
    • Crum C.P., Drapkin R., Kindelberger D., et al. Lessons from BRCA: the tubal fimbria emerges as an origin for pelvic serous cancer. Clin Med Res 2007, 5:35-44.
    • (2007) Clin Med Res , vol.5 , pp. 35-44
    • Crum, C.P.1    Drapkin, R.2    Kindelberger, D.3
  • 85
    • 16644400609 scopus 로고    scopus 로고
    • Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy
    • Powell C.B., Kenley E., Chen L.M., et al. Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy. J Clin Oncol 2005, 23:127-132.
    • (2005) J Clin Oncol , vol.23 , pp. 127-132
    • Powell, C.B.1    Kenley, E.2    Chen, L.M.3
  • 86
    • 0034810223 scopus 로고    scopus 로고
    • Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status
    • Colgan T.J., Murphy J., Cole D.E., et al. Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status. Am J Surg Pathol 2001, 25:1283-1289.
    • (2001) Am J Surg Pathol , vol.25 , pp. 1283-1289
    • Colgan, T.J.1    Murphy, J.2    Cole, D.E.3
  • 87
    • 0037162110 scopus 로고    scopus 로고
    • Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations
    • Rebbeck T.R., Lynch H.T., Neuhausen S.L., et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002, 346:1616-1622.
    • (2002) N Engl J Med , vol.346 , pp. 1616-1622
    • Rebbeck, T.R.1    Lynch, H.T.2    Neuhausen, S.L.3
  • 88
    • 34447500612 scopus 로고    scopus 로고
    • Risk-reducing salpingo-oophorectomy in patients with germline mutations in BRCA1 or BRCA2
    • Kauff N.D., Barakat R.R. Risk-reducing salpingo-oophorectomy in patients with germline mutations in BRCA1 or BRCA2. J Clin Oncol 2007, 25:2921-2927.
    • (2007) J Clin Oncol , vol.25 , pp. 2921-2927
    • Kauff, N.D.1    Barakat, R.R.2
  • 89
    • 80052034915 scopus 로고    scopus 로고
    • Circulating sex hormones and breast cancer risk factors in postmenopausal women: reanalysis of 13 studies
    • Key T.J., Appleby P.N., Reeves G.K., et al. Circulating sex hormones and breast cancer risk factors in postmenopausal women: reanalysis of 13 studies. Br J Cancer 2011, 105:709-722.
    • (2011) Br J Cancer , vol.105 , pp. 709-722
    • Key, T.J.1    Appleby, P.N.2    Reeves, G.K.3
  • 90
    • 77956193440 scopus 로고    scopus 로고
    • Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality
    • Domchek S.M., Friebel T.M., Singer C.F., et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010, 304:967-975.
    • (2010) JAMA , vol.304 , pp. 967-975
    • Domchek, S.M.1    Friebel, T.M.2    Singer, C.F.3
  • 91
    • 41649107292 scopus 로고    scopus 로고
    • Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study
    • Kauff N.D., Domchek S.M., Friebel T.M., et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 2008, 26:1331-1337.
    • (2008) J Clin Oncol , vol.26 , pp. 1331-1337
    • Kauff, N.D.1    Domchek, S.M.2    Friebel, T.M.3
  • 92
    • 79952818157 scopus 로고    scopus 로고
    • The impact of prophylactic salpingo-oophorectomy on menopausal symptoms and sexual function in women who carry a BRCA mutation
    • Finch A., Metcalfe K.A., Chiang J.K., et al. The impact of prophylactic salpingo-oophorectomy on menopausal symptoms and sexual function in women who carry a BRCA mutation. Gynecol Oncol 2011, 121:163-168.
    • (2011) Gynecol Oncol , vol.121 , pp. 163-168
    • Finch, A.1    Metcalfe, K.A.2    Chiang, J.K.3
  • 93
    • 30944463691 scopus 로고    scopus 로고
    • Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group
    • Rebbeck T.R., Friebel T., Wagner T., et al. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2005, 23:7804-7810.
    • (2005) J Clin Oncol , vol.23 , pp. 7804-7810
    • Rebbeck, T.R.1    Friebel, T.2    Wagner, T.3
  • 94
    • 36348972261 scopus 로고    scopus 로고
    • Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic
    • Heemskerk-Gerritsen B.A., Brekelmans C.T., Menke-Pluymers M.B., et al. Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic. Ann Surg Oncol 2007, 14:3335-3344.
    • (2007) Ann Surg Oncol , vol.14 , pp. 3335-3344
    • Heemskerk-Gerritsen, B.A.1    Brekelmans, C.T.2    Menke-Pluymers, M.B.3
  • 95
    • 0035913275 scopus 로고    scopus 로고
    • Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation
    • Meijers-Heijboer H., van Geel B., van Putten W.L., et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001, 345:159-164.
    • (2001) N Engl J Med , vol.345 , pp. 159-164
    • Meijers-Heijboer, H.1    van Geel, B.2    van Putten, W.L.3
  • 96
    • 0033552904 scopus 로고    scopus 로고
    • Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer
    • Hartmann L.C., Schaid D.J., Woods J.E., et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999, 340:77-84.
    • (1999) N Engl J Med , vol.340 , pp. 77-84
    • Hartmann, L.C.1    Schaid, D.J.2    Woods, J.E.3
  • 97
    • 50549099296 scopus 로고    scopus 로고
    • Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study
    • Brandberg Y., Sandelin K., Erikson S., et al. Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study. J Clin Oncol 2008, 26:3943-3949.
    • (2008) J Clin Oncol , vol.26 , pp. 3943-3949
    • Brandberg, Y.1    Sandelin, K.2    Erikson, S.3
  • 98
    • 1842614292 scopus 로고    scopus 로고
    • Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group
    • Rebbeck T.R., Friebel T., Lynch H.T., et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004, 22:1055-1062.
    • (2004) J Clin Oncol , vol.22 , pp. 1055-1062
    • Rebbeck, T.R.1    Friebel, T.2    Lynch, H.T.3
  • 99
    • 0035824069 scopus 로고    scopus 로고
    • Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers
    • Hartmann L.C., Sellers T.A., Schaid D.J., et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 2001, 93:1633-1637.
    • (2001) J Natl Cancer Inst , vol.93 , pp. 1633-1637
    • Hartmann, L.C.1    Sellers, T.A.2    Schaid, D.J.3
  • 101
    • 84861188731 scopus 로고    scopus 로고
    • Risk of residual breast tissue after skin-sparing mastectomy
    • Dreadin J., Sarode V., Saint-Cyr M., et al. Risk of residual breast tissue after skin-sparing mastectomy. Breast J 2012, 18:248-252.
    • (2012) Breast J , vol.18 , pp. 248-252
    • Dreadin, J.1    Sarode, V.2    Saint-Cyr, M.3
  • 102
    • 40649115737 scopus 로고    scopus 로고
    • Terminal duct lobular units are scarce in the nipple: implications for prophylactic nipple-sparing mastectomy: terminal duct lobular units in the nipple
    • Stolier A.J., Wang J. Terminal duct lobular units are scarce in the nipple: implications for prophylactic nipple-sparing mastectomy: terminal duct lobular units in the nipple. Ann Surg Oncol 2008, 15:438-442.
    • (2008) Ann Surg Oncol , vol.15 , pp. 438-442
    • Stolier, A.J.1    Wang, J.2
  • 103
    • 38449107978 scopus 로고    scopus 로고
    • Breast cancer risk among male BRCA1 and BRCA2 mutation carriers
    • Tai Y.C., Domchek S., Parmigiani G., et al. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2007, 99:1811-1814.
    • (2007) J Natl Cancer Inst , vol.99 , pp. 1811-1814
    • Tai, Y.C.1    Domchek, S.2    Parmigiani, G.3
  • 104
    • 53149125656 scopus 로고    scopus 로고
    • Counseling for male BRCA mutation carriers: a review
    • Mohamad H.B., Apffelstaedt J.P. Counseling for male BRCA mutation carriers: a review. Breast 2008, 17:441-450.
    • (2008) Breast , vol.17 , pp. 441-450
    • Mohamad, H.B.1    Apffelstaedt, J.P.2
  • 105
    • 79960094457 scopus 로고    scopus 로고
    • Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families
    • Thorne H., Willems A.J., Niedermayr E., et al. Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families. Cancer Prev Res (Phila) 2011, 4:1002-1010.
    • (2011) Cancer Prev Res (Phila) , vol.4 , pp. 1002-1010
    • Thorne, H.1    Willems, A.J.2    Niedermayr, E.3
  • 106
    • 84860114494 scopus 로고    scopus 로고
    • What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers
    • [inFrench]
    • Brachot-Simeonova I., Morin G., Gillaux C., et al. Bull Cancer 2012, 99:417-423. [inFrench].
    • (2012) Bull Cancer , vol.99 , pp. 417-423
    • Brachot-Simeonova, I.1    Morin, G.2    Gillaux, C.3
  • 107
    • 84863723940 scopus 로고    scopus 로고
    • Genetic counseling and genetic testing in the preoperative evaluation of breast cancer patients
    • Euhus D., Robinson L. Genetic counseling and genetic testing in the preoperative evaluation of breast cancer patients. Curr Breast Cancer Rep 2012, 4:102-109.
    • (2012) Curr Breast Cancer Rep , vol.4 , pp. 102-109
    • Euhus, D.1    Robinson, L.2
  • 108
    • 33846306403 scopus 로고    scopus 로고
    • Management of BRCA1/2 associated breast cancer: a systematic qualitative review of the state of knowledge in 2006
    • Liebens F.P., Carly B., Pastijn A., et al. 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.
    • (2007) Eur J Cancer , vol.43 , pp. 238-257
    • Liebens, F.P.1    Carly, B.2    Pastijn, A.3
  • 109
    • 77953028921 scopus 로고    scopus 로고
    • Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy
    • Pierce L.J., Phillips K.A., Griffith K.A., et al. Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy. Breast Cancer Res Treat 2010, 121:389-398.
    • (2010) Breast Cancer Res Treat , vol.121 , pp. 389-398
    • Pierce, L.J.1    Phillips, K.A.2    Griffith, K.A.3
  • 110
    • 77953538854 scopus 로고    scopus 로고
    • Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis
    • Lee E.H., Park S.K., Park B., et al. Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis. Breast Cancer Res Treat 2010, 122:11-25.
    • (2010) Breast Cancer Res Treat , vol.122 , pp. 11-25
    • Lee, E.H.1    Park, S.K.2    Park, B.3
  • 111
    • 84855521780 scopus 로고    scopus 로고
    • Breast cancer prognosis in BRCA1 and BRCA2 mutation carriers: an international prospective breast cancer family registry population-based cohort study
    • Goodwin P.J., Phillips K.A., West D.W., et al. Breast cancer prognosis in BRCA1 and BRCA2 mutation carriers: an international prospective breast cancer family registry population-based cohort study. J Clin Oncol 2012, 30:19-26.
    • (2012) J Clin Oncol , vol.30 , pp. 19-26
    • Goodwin, P.J.1    Phillips, K.A.2    West, D.W.3
  • 112
    • 71549153155 scopus 로고    scopus 로고
    • Breast-conserving surgery in BRCA1/2 mutation carriers: are we approaching an answer?
    • Garcia-Etienne C.A., Barile M., Gentilini O.D., et al. Breast-conserving surgery in BRCA1/2 mutation carriers: are we approaching an answer?. Ann Surg Oncol 2009, 16:3380-3387.
    • (2009) Ann Surg Oncol , vol.16 , pp. 3380-3387
    • Garcia-Etienne, C.A.1    Barile, M.2    Gentilini, O.D.3
  • 113
    • 0037181697 scopus 로고    scopus 로고
    • Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status
    • Haffty B.G., Harrold E., Khan A.J., et al. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. Lancet 2002, 359:1471-1477.
    • (2002) Lancet , vol.359 , pp. 1471-1477
    • Haffty, B.G.1    Harrold, E.2    Khan, A.J.3
  • 114
    • 67649519727 scopus 로고    scopus 로고
    • Accelerated partial breast irradiation consensus statement from the American Society for Radiation Oncology (ASTRO)
    • Smith B.D., Arthur D.W., Buchholz T.A., et al. Accelerated partial breast irradiation consensus statement from the American Society for Radiation Oncology (ASTRO). Int J Radiat Oncol Biol Phys 2009, 74:987-1001.
    • (2009) Int J Radiat Oncol Biol Phys , vol.74 , pp. 987-1001
    • Smith, B.D.1    Arthur, D.W.2    Buchholz, T.A.3
  • 115
    • 79955474711 scopus 로고    scopus 로고
    • Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers
    • Metcalfe K., Gershman S., Lynch H.T., et al. Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer 2011, 104:1384-1392.
    • (2011) Br J Cancer , vol.104 , pp. 1384-1392
    • Metcalfe, K.1    Gershman, S.2    Lynch, H.T.3
  • 116
    • 77949967128 scopus 로고    scopus 로고
    • Population-based study of contralateral prophylactic mastectomy and survival outcomes of breast cancer patients
    • Bedrosian I., Hu C.Y., Chang G.J. Population-based study of contralateral prophylactic mastectomy and survival outcomes of breast cancer patients. J Natl Cancer Inst 2010, 102:401-409.
    • (2010) J Natl Cancer Inst , vol.102 , pp. 401-409
    • Bedrosian, I.1    Hu, C.Y.2    Chang, G.J.3
  • 117
    • 78049470319 scopus 로고    scopus 로고
    • Contralateral prophylactic mastectomy is associated with a survival advantage in high-risk women with a personal history of breast cancer
    • Boughey J.C., Hoskin T.L., Degnim A.C., et al. Contralateral prophylactic mastectomy is associated with a survival advantage in high-risk women with a personal history of breast cancer. Ann Surg Oncol 2010, 17:2702-2709.
    • (2010) Ann Surg Oncol , vol.17 , pp. 2702-2709
    • Boughey, J.C.1    Hoskin, T.L.2    Degnim, A.C.3
  • 118
    • 0036341143 scopus 로고    scopus 로고
    • A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer
    • Chappuis P.O., Goffin J., Wong N., et al. A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. J Med Genet 2002, 39:608-610.
    • (2002) J Med Genet , vol.39 , pp. 608-610
    • Chappuis, P.O.1    Goffin, J.2    Wong, N.3
  • 119
    • 85172062826 scopus 로고    scopus 로고
    • BRCA1-linked breast cancer (BC) is highly more chemosensitive than its BRCA2-linked or sporadic counterparts, 27th Congress of the European Society for Medical Oncology. Nice (France): October 18-22
    • Delaloge S, Pautier P, Kloos I, et al. BRCA1-linked breast cancer (BC) is highly more chemosensitive than its BRCA2-linked or sporadic counterparts, 27th Congress of the European Society for Medical Oncology. Nice (France): October 18-22, 2002.
    • (2002)
    • Delaloge, S.1    Pautier, P.2    Kloos, I.3
  • 120
    • 68449097071 scopus 로고    scopus 로고
    • Response to neo-adjuvant chemotherapy in BRCA1 and BRCA2 related stage III breast cancer
    • Hubert A., Mali B., Hamburger T., et al. Response to neo-adjuvant chemotherapy in BRCA1 and BRCA2 related stage III breast cancer. Fam Cancer 2009, 8:173-177.
    • (2009) Fam Cancer , vol.8 , pp. 173-177
    • Hubert, A.1    Mali, B.2    Hamburger, T.3
  • 121
    • 48349109492 scopus 로고    scopus 로고
    • Primary resistance to docetaxel-based chemotherapy in metastatic breast cancer patients correlates with a high frequency of BRCA1 mutations
    • Wysocki P.J., Korski K., Lamperska K., et al. Primary resistance to docetaxel-based chemotherapy in metastatic breast cancer patients correlates with a high frequency of BRCA1 mutations. Med Sci Monit 2008, 14:SC7-SC10.
    • (2008) Med Sci Monit , vol.14
    • Wysocki, P.J.1    Korski, K.2    Lamperska, K.3
  • 122
    • 39749119151 scopus 로고    scopus 로고
    • Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers
    • Byrski T., Gronwald J., Huzarski T., et al. Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers. Breast Cancer Res Treat 2008, 108:289-296.
    • (2008) Breast Cancer Res Treat , vol.108 , pp. 289-296
    • Byrski, T.1    Gronwald, J.2    Huzarski, T.3
  • 123
    • 36049015023 scopus 로고    scopus 로고
    • A systematic review of platinum and taxane resistance from bench to clinic: an inverse relationship
    • Stordal B., Pavlakis N., Davey R. A systematic review of platinum and taxane resistance from bench to clinic: an inverse relationship. Cancer Treat Rev 2007, 33:688-703.
    • (2007) Cancer Treat Rev , vol.33 , pp. 688-703
    • Stordal, B.1    Pavlakis, N.2    Davey, R.3
  • 124
    • 0043130465 scopus 로고    scopus 로고
    • The effect of loss of BRCA1 on the sensitivity to anticancer agents in p53-deficient cells
    • Fedier A., Steiner R.A., Schwarz V.A., et al. The effect of loss of BRCA1 on the sensitivity to anticancer agents in p53-deficient cells. Int J Oncol 2003, 22:1169-1173.
    • (2003) Int J Oncol , vol.22 , pp. 1169-1173
    • Fedier, A.1    Steiner, R.A.2    Schwarz, V.A.3
  • 125
    • 75749143502 scopus 로고    scopus 로고
    • Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy
    • Byrski T., Gronwald J., Huzarski T., et al. Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 2010, 28:375-379.
    • (2010) J Clin Oncol , vol.28 , pp. 375-379
    • Byrski, T.1    Gronwald, J.2    Huzarski, T.3
  • 126
    • 67349284098 scopus 로고    scopus 로고
    • Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients
    • Byrski T., Huzarski T., Dent R., et al. Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 2009, 115:359-363.
    • (2009) Breast Cancer Res Treat , vol.115 , pp. 359-363
    • Byrski, T.1    Huzarski, T.2    Dent, R.3
  • 127
    • 67650471685 scopus 로고    scopus 로고
    • Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
    • Fong P.C., Boss D.S., Yap T.A., et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009, 361:123-134.
    • (2009) N Engl J Med , vol.361 , pp. 123-134
    • Fong, P.C.1    Boss, D.S.2    Yap, T.A.3
  • 128
    • 77955019276 scopus 로고    scopus 로고
    • Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial
    • Tutt A., Robson M., Garber J.E., et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010, 376:235-244.
    • (2010) Lancet , vol.376 , pp. 235-244
    • Tutt, A.1    Robson, M.2    Garber, J.E.3
  • 129
    • 81055126264 scopus 로고    scopus 로고
    • Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
    • Walsh T., Casadei S., Lee M.K., et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011, 108:18032-18037.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 18032-18037
    • Walsh, T.1    Casadei, S.2    Lee, M.K.3
  • 130
    • 77955439715 scopus 로고    scopus 로고
    • Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    • Walsh T., Lee M.K., Casadei S., et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-12633.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 12629-12633
    • Walsh, T.1    Lee, M.K.2    Casadei, S.3
  • 131
    • 85172060919 scopus 로고    scopus 로고
    • Available at:. Accessed February 1, 2013.
    • Ambry Genetics. BreastNext. 2012. Available at:. Accessed February 1, 2013. http://www.ambrygen.com/tests/breastnext.
    • (2012) Ambry Genetics. BreastNext
  • 132
    • 85172044347 scopus 로고    scopus 로고
    • National Comprehensive Cancer Network. Colorectal Cancer Screening, NCCN Clinical Practice Guidelines in Oncology v2.2012. Fort Washington (PA): Available at:. Accessed February 1, 2013.
    • National Comprehensive Cancer Network. Colorectal Cancer Screening, NCCN Clinical Practice Guidelines in Oncology v2.2012. Fort Washington (PA): 2012. Available at:. Accessed February 1, 2013. http://www.nccn.org/professionals/physician_gls/pdf/colon.pdf.
    • (2012)
  • 133
    • 77953985258 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome: a systematic review and recommendations for management
    • Beggs A.D., Latchford A.R., Vasen H.F., et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010, 59:975-986.
    • (2010) Gut , vol.59 , pp. 975-986
    • Beggs, A.D.1    Latchford, A.R.2    Vasen, H.F.3
  • 134
    • 77954579781 scopus 로고    scopus 로고
    • Testing for CHEK2 in the cancer genetics clinic: ready for prime time?
    • Narod S.A. Testing for CHEK2 in the cancer genetics clinic: ready for prime time?. Clin Genet 2010, 78:1-7.
    • (2010) Clin Genet , vol.78 , pp. 1-7
    • Narod, S.A.1
  • 135
    • 33847316896 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
    • Ferner R.E., Huson S.M., Thomas N., et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007, 44:81-88.
    • (2007) J Med Genet , vol.44 , pp. 81-88
    • Ferner, R.E.1    Huson, S.M.2    Thomas, N.3
  • 136
    • 33645091229 scopus 로고    scopus 로고
    • Cutaneous melanoma: family screening and genetic testing
    • Niendorf K.B., Tsao H. Cutaneous melanoma: family screening and genetic testing. Dermatol Ther 2006, 19:1-8.
    • (2006) Dermatol Ther , vol.19 , pp. 1-8
    • Niendorf, K.B.1    Tsao, H.2
  • 137
    • 0032887878 scopus 로고    scopus 로고
    • Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the melanoma genetics consortium
    • Kefford R.F., Newton Bishop J.A., Bergman W., et al. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the melanoma genetics consortium. J Clin Oncol 1999, 17:3245-3251.
    • (1999) J Clin Oncol , vol.17 , pp. 3245-3251
    • Kefford, R.F.1    Newton Bishop, J.A.2    Bergman, W.3
  • 138
    • 46449134676 scopus 로고    scopus 로고
    • Pancreatic cancer and the FAMMM syndrome
    • Lynch H.T., Fusaro R.M., Lynch J.F., et al. Pancreatic cancer and the FAMMM syndrome. Fam Cancer 2008, 7:103-112.
    • (2008) Fam Cancer , vol.7 , pp. 103-112
    • Lynch, H.T.1    Fusaro, R.M.2    Lynch, J.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.