BRCA1/2 associated cancer susceptibility: a clinical overview

[1]Stadler, Z.K., et al., Genome-wide association studies of cancer. J Clin Oncol, 2010. 28(27): p. 4255-67.StadlerZ.K.et al.Genome-wide association studies of cancerJ Clin Oncol2010282742556710.1200/JCO.2009.25.7816295397620585100Search in Google Scholar

[2]Foulkes, W.D., Inherited susceptibility to common cancers. N Engl J Med, 2008. 359(20): p. 2143-53.FoulkesW.D.Inherited susceptibility to common cancersN Engl J Med20083592021435310.1056/NEJMra080296819005198Search in Google Scholar

[3]Ford, D., 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(3): p. 676-89.FordD.et al.Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ConsortiumAm J Hum Genet19986236768910.1086/30174913769449497246Search in Google Scholar

[4]Yurgelun, M.B., E. Hiller, and J.E. Garber, Population-Wide Screening for Germline BRCA1 and BRCA2 Mutations: Too Much of a Good Thing? J Clin Oncol, 2015.YurgelunM.B.HillerE.GarberJ.E.Population-Wide Screening for Germline BRCA1 and BRCA2 Mutations: Too Much of a Good Thing?J Clin Oncol201510.1200/JCO.2015.60.859626282646Search in Google Scholar

[5]Tsigginou, A., et al., Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testing. Hered Cancer Clin Pract, 2015. 13(1): p. 17.TsigginouA.et al.Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testingHered Cancer Clin Pract20151311710.1186/s13053-015-0037-y454532926300996Search in Google Scholar

[6]Fostira, F., et al., Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study. Breast Cancer Res Treat, 2012. 134(1): p. 353-62.FostiraF.et al.Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group StudyBreast Cancer Res Treat201213413536210.1007/s10549-012-2021-922434525Search in Google Scholar

[7]Stavropoulou, A.V., et al., Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. PLoS One, 2013. 8(3): p. e58182.StavropoulouA.V.et al.Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer casesPLoS One201383e5818210.1371/journal.pone.0058182359424123536787Search in Google Scholar

[8]Petrucelli, N., M.B. Daly, and G.L. Feldman, BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer, in GeneReviews(R), R.A. Pagon, et al., Editors. 1993: Seattle (WA).PetrucelliN.DalyM.B.FeldmanG.L.BRCA1 and BRCA2 Hereditary Breast and Ovarian CancerGeneReviews(R)PagonR.A.et al.1993Seattle (WA)Search in Google Scholar

[9]Litton, J.K., et al., Earlier age of onset of BRCA mutation-related cancers in subsequent generations. Cancer, 2012. 118(2): p. 321-5.LittonJ.K.et al.Earlier age of onset of BRCA mutation-related cancers in subsequent generationsCancer20121182321510.1002/cncr.26284436937721913181Search in Google Scholar

[10]Martinez-Delgado, B., et al., Genetic anticipation is associated with telomere shortening in hereditary breast cancer. PLoS Genet, 2011. 7(7): p. e1002182.Martinez-DelgadoB.et al.Genetic anticipation is associated with telomere shortening in hereditary breast cancerPLoS Genet201177e100218210.1371/journal.pgen.1002182314562121829373Search in Google Scholar

[11]Lubinski, J., et al., Cancer variation associated with the position of the mutation in the BRCA2 gene. Fam Cancer, 2004. 3(1): p. 1-10.LubinskiJ.et al.Cancer variation associated with the position of the mutation in the BRCA2 geneFam Cancer20043111010.1023/B:FAME.0000026816.32400.45Search in Google Scholar

[12]Masciari, S., et al., Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat, 2012. 133(3): p. 1125-30.MasciariS.et al.Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effortBreast Cancer Res Treat2012133311253010.1007/s10549-012-1993-9Search in Google Scholar

[13]Riley, B.D., 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(2): p. 151-61.RileyB.D.et al.Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic CounselorsJ Genet Couns20122121516110.1007/s10897-011-9462-xSearch in Google Scholar

[14]Robson, M.E., et al., American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol, 2015.RobsonM.E.et al.American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer SusceptibilityJ Clin Oncol201510.1200/JCO.2015.63.0996Search in Google Scholar

[15]Kurian, A.W., et al., Performance of prediction models for BRCA mutation carriage in three racial/ ethnic groups: findings from the Northern California Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev, 2009. 18(4): p. 1084-91.KurianA.W.et al.Performance of prediction models for BRCA mutation carriage in three racial/ ethnic groups: findings from the Northern California Breast Cancer Family RegistryCancer Epidemiol Biomarkers Prev200918410849110.1158/1055-9965.EPI-08-1090Search in Google Scholar

[16]NCCN, www.nccn.org(last accessed on 20 Jul 2015).NCCNwww.nccn.orglast accessed on20 Jul 2015Search in Google Scholar

[17]Daly, M.B., et al., Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw, 2010. 8(5): p. 562-94.DalyM.B.et al.Genetic/familial high-risk assessment: breast and ovarianJ Natl Compr Canc Netw2010855629410.6004/jnccn.2010.0043Search in Google Scholar

[18]Saslow, D., et al., American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin, 2007. 57(2): p. 75-89.SaslowD.et al.American Cancer Society guidelines for breast screening with MRI as an adjunct to mammographyCA Cancer J Clin2007572758910.3322/canjclin.57.2.75Search in Google Scholar

[19]Scheuer, L., et al., Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol, 2002. 20(5): p. 1260-8.ScheuerL.et al.Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriersJ Clin Oncol20022051260810.1200/JCO.2002.20.5.1260Search in Google Scholar

[20]Bick, U., Intensified surveillance for early detection of breast cancer in high-risk patients. Breast Care (Basel), 2015. 10(1): p. 13-20.BickU.Intensified surveillance for early detection of breast cancer in high-risk patientsBreast Care (Basel)2015101132010.1159/000375390Search in Google Scholar

[21]Chiarelli, A.M., et al., Effectiveness of screening with annual magnetic resonance imaging and mammography: results of the initial screen from the ontario high risk breast screening program. J Clin Oncol, 2014. 32(21): p. 2224-30.ChiarelliA.M.et al.Effectiveness of screening with annual magnetic resonance imaging and mammography: results of the initial screen from the ontario high risk breast screening programJ Clin Oncol2014322122243010.1200/JCO.2013.52.8331Search in Google Scholar

[22]Narod, S.A., et al., Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet Oncol, 2006. 7(5): p. 402-6.NarodS.A.et al.Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control studyLancet Oncol200675402610.1016/S1470-2045(06)70624-6Search in Google Scholar

[23]Kauff, N.D., et al., Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med, 2002. 346(21): p. 1609-15.KauffN.D.et al.Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutationN Engl J Med20023462116091510.1097/00006254-200209000-00016Search in Google Scholar

[24]Rebbeck, T.R., et al., Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med, 2002. 346(21): p. 1616-22.RebbeckT.R.et al.Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutationsN Engl J Med20023462116162210.1016/S0959-8049(02)00269-1Search in Google Scholar

[25]Finch, A.P., et al., Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol, 2014. 32(15): p. 1547-53.FinchA.P.et al.Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutationJ Clin Oncol2014321515475310.1200/JCO.2013.53.2820Search in Google Scholar

[26]Narod, S.A., 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(9245): p. 1876-81.NarodS.A.et al.Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study GroupLancet2000356924518768110.1016/S0140-6736(00)03258-XSearch in Google Scholar

[27]King, M.C., 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(18): p. 2251-6.KingM.C.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 TrialJAMA2001286182251610.1001/jama.286.18.225111710890Search in Google Scholar

[28]Cibula, D., et al., Oral contraceptives and risk of ovarian and breast cancers in BRCA mutation carriers: a meta-analysis. Expert Rev Anticancer Ther, 2011. 11(8): p. 1197-207.CibulaD.et al.Oral contraceptives and risk of ovarian and breast cancers in BRCA mutation carriers: a meta-analysisExpert Rev Anticancer Ther2011118119720710.1586/era.11.3821916573Search in Google Scholar

[29]Iodice, S., et al., Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a metaanalysis. Eur J Cancer, 2010. 46(12): p. 2275-84.IodiceS.et al.Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a metaanalysisEur J Cancer2010461222758410.1016/j.ejca.2010.04.01820537530Search in Google Scholar

[30]Tutt A, et al: The TNT trial. 2014 San Antonio Breast Cancer Symposium. Abstract S3-01. Presented December 11, 2014.TuttAet alThe TNT trial2014 San Antonio Breast Cancer SymposiumAbstractS301PresentedDecember 11, 2014Search in Google Scholar

[31]Walsh, C.S., Two decades beyond BRCA1/2: Homologous recombination, hereditary cancer risk and a target for ovarian cancer therapy. Gynecol Oncol, 2015. 137(2): p. 343-50.WalshC.S.Two decades beyond BRCA1/2: Homologous recombination, hereditary cancer risk and a target for ovarian cancer therapyGynecol Oncol201513723435010.1016/j.ygyno.2015.02.01725725131Search in Google Scholar

[32]Kurian, A.W. and J.M. Ford, Multigene Panel Testing in Oncology Practice: How Should We Respond? JAMA Oncol, 2015. 1(3): p. 277-8.KurianA.W.FordJ.M.Multigene Panel Testing in Oncology Practice: How Should We Respond?JAMA Oncol201513277810.1001/jamaoncol.2015.2826181167Search in Google Scholar

[33]Desmond, A., et al., Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. JAMA Oncol, 2015. 1(7): p. 943-51.DesmondA.et al.Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk AssessmentJAMA Oncol2015179435110.1001/jamaoncol.2015.269026270727Search in Google Scholar

[34]Gaudet, M.M., et al., Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet, 2013. 9(3): p. e1003173.GaudetM.M.et al.Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer riskPLoS Genet201393e100317310.1371/journal.pgen.1003173360964723544012Search in Google Scholar

[35]Couch, F.J., et al., Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet, 2013. 9(3): p. e1003212.CouchF.J.et al.Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskPLoS Genet201393e100321210.1371/journal.pgen.1003212360964623544013Search in Google Scholar

[36]King, M.C., E. Levy-Lahad, and A. Lahad, Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. JAMA, 2014. 312(11): p. 1091-2.KingM.C. Levy-LahadE.LahadA.Population-based screening for BRCA1 and BRCA2: 2014 Lasker AwardJAMA2014312111091210.1001/jama.2014.1248325198398Search in Google Scholar

[37]Georgios Lypas, K.P., Georgia Georgiou, Menelaos Zoulamoglou, Nikolaos Tsoukalas, Georgios Zografos, Pavlos Papakostas, Vasileios Barbounis, Identification of breast cancer patients fulfilling NCCN criteria for genetic risk assessment. J Clin Oncol 31, 2013 (suppl; abstr e12537).Georgios LypasK.P.GeorgiouGeorgiaZoulamoglouMenelaosTsoukalasNikolaosZografosGeorgiosPapakostasPavlosBarbounisVasileiosIdentification of breast cancer patients fulfilling NCCN criteria for genetic risk assessmentJ Clin Oncol 312013(suppl; abstr e12537)10.1200/jco.2013.31.15_suppl.e12537Search in Google Scholar

[38]Armstrong, J., et al., Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population: The ABOUT Study. JAMA Oncol, 2015. 1(9): p. 1251-60.ArmstrongJ.et al.Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population: The ABOUT StudyJAMA Oncol20151912516010.1097/01.ogx.0000482583.01182.eaSearch in Google Scholar

[39]Robson, M.E., et al., American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol, 2010. 28(5): p. 893-901.RobsonM.E.et al.American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibilityJ Clin Oncol201028589390110.1200/JCO.2009.27.066020065170Search in Google Scholar