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Volumn 13, Issue 1, 2011, Pages

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: A report from The Breast Cancer Family Registry

(20)  Smith, Letitia D a   Tesoriero, Andrea A a,b   Wong, Ee M a   Ramus, Susan J c   O'Malley, Frances P d,e   Mulligan, Anna Marie e,f   Terry, Mary Beth g   Senie, Ruby T g   Santella, Regina M g   John, Esther M h   Andrulis, Irene L d,e   Ozcelik, Hilmi e   Daly, Mary B i   Godwin, Andrew K i,n   Buys, Saundra S j   Fox, Stephen k   Goldgar, David E l   Giles, Graham G m   Hopper, John L a   Southey, Melissa C a  


Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; GENOMIC DNA;

EID: 84860412858     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr2822     Document Type: Article
Times cited : (8)

References (31)
  • 2
    • 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
    • 10.1200/JCO.2002.09.023, 11981002, for the Breast Cancer Linkage Consortium
    • Lakhani S, van de Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF, . for the Breast Cancer Linkage Consortium 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. 10.1200/JCO.2002.09.023, 11981002, for the Breast Cancer Linkage Consortium.
    • (2002) J Clin Oncol , vol.20 , pp. 2310-2318
    • Lakhani, S.1    van de Vijver, M.J.2    Jacquemier, J.3    Anderson, T.J.4    Osin, P.P.5    McGuffog, L.6    Easton, D.F.7
  • 3
    • 33644838384 scopus 로고    scopus 로고
    • Optimal selection of individuals for BRCA mutation testing: a comparison of available methods
    • 10.1200/JCO.2005.01.9737, 16446345
    • James PA, Doherty R, Harris M, Mukesh BN, Milner A, Young MA, Scott C. Optimal selection of individuals for BRCA mutation testing: a comparison of available methods. J Clin Oncol 2006, 24:707-715. 10.1200/JCO.2005.01.9737, 16446345.
    • (2006) J Clin Oncol , vol.24 , pp. 707-715
    • James, P.A.1    Doherty, R.2    Harris, M.3    Mukesh, B.N.4    Milner, A.5    Young, M.A.6    Scott, C.7
  • 4
    • 78149477590 scopus 로고    scopus 로고
    • Incorporating tumour pathology information into breast cancer risk prediction algorithms
    • 10.1186/bcr2576, 2917017, 20482762
    • Mavaddat N, Rebbeck TR, Lakhani SR, Easton DF, Antoniou AC. Incorporating tumour pathology information into breast cancer risk prediction algorithms. Breast Cancer Res 2010, 12:R28. 10.1186/bcr2576, 2917017, 20482762.
    • (2010) Breast Cancer Res , vol.12
    • Mavaddat, N.1    Rebbeck, T.R.2    Lakhani, S.R.3    Easton, D.F.4    Antoniou, A.C.5
  • 5
    • 0032400785 scopus 로고    scopus 로고
    • The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 and BRCA2 germline mutations: a population-based study
    • 10.1002/(SICI)1097-0142(19981201)83:11<2335::AID-CNCR13>3.0.CO;2-N, 9840533
    • Armes JE, Egan AJM, Southey MC, Dite GS, McCredie MRE, Giles GG, Hopper JL, Venter DJ. The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 and BRCA2 germline mutations: a population-based study. Cancer 1998, 83:2335-2345. 10.1002/(SICI)1097-0142(19981201)83:11<2335::AID-CNCR13>3.0.CO;2-N, 9840533.
    • (1998) Cancer , vol.83 , pp. 2335-2345
    • Armes, J.E.1    Egan, A.J.M.2    Southey, M.C.3    Dite, G.S.4    McCredie, M.R.E.5    Giles, G.G.6    Hopper, J.L.7    Venter, D.J.8
  • 9
    • 55549147204 scopus 로고    scopus 로고
    • Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications
    • 10.1002/humu.20896, 18951461
    • Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat 2008, 29:1342-1354. 10.1002/humu.20896, 18951461.
    • (2008) Hum Mutat , vol.29 , pp. 1342-1354
    • Tavtigian, S.V.1    Byrnes, G.B.2    Goldgar, D.E.3    Thomas, A.4
  • 10
    • 55549145156 scopus 로고    scopus 로고
    • In silico analysis of missense substitutions using sequence-alignment based methods
    • 10.1002/humu.20892, 18951440, IARC Unclassified Genetic Variants Working Group
    • Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB, . IARC Unclassified Genetic Variants Working Group In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat 2008, 29:1327-1336. 10.1002/humu.20892, 18951440, IARC Unclassified Genetic Variants Working Group.
    • (2008) Hum Mutat , vol.29 , pp. 1327-1336
    • Tavtigian, S.V.1    Greenblatt, M.S.2    Lesueur, F.3    Byrnes, G.B.4
  • 11
    • 78649331127 scopus 로고    scopus 로고
    • Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation
    • 10.1007/s10549-010-0817-z, 20232141
    • Sluiter MD, van Rensburg EJ. Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Res Treat 2011, 125:325-349. 10.1007/s10549-010-0817-z, 20232141.
    • (2011) Breast Cancer Res Treat , vol.125 , pp. 325-349
    • Sluiter, M.D.1    van Rensburg, E.J.2
  • 12
    • 78649335197 scopus 로고    scopus 로고
    • Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene
    • 10.1007/s10549-010-0745-y, 20135348
    • Ticha I, Kleibl Z, Stribrna J, Kotlas J, Zimovjanova M, Mateju M, Zikan M, Pohlreich P. Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene. Breast Cancer Res Treat 2010, 124:337-347. 10.1007/s10549-010-0745-y, 20135348.
    • (2010) Breast Cancer Res Treat , vol.124 , pp. 337-347
    • Ticha, I.1    Kleibl, Z.2    Stribrna, J.3    Kotlas, J.4    Zimovjanova, M.5    Mateju, M.6    Zikan, M.7    Pohlreich, P.8
  • 22
    • 77953734977 scopus 로고    scopus 로고
    • Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study
    • 10.1158/0008-5472.CAN-09-0851, 20501846
    • Mouchawar J, Korch C, Byers T, Pitts TM, Li E, McCredie MR, Giles GG, Hopper JL, Southey MC. Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res 2010, 70:4795-4800. 10.1158/0008-5472.CAN-09-0851, 20501846.
    • (2010) Cancer Res , vol.70 , pp. 4795-4800
    • Mouchawar, J.1    Korch, C.2    Byers, T.3    Pitts, T.M.4    Li, E.5    McCredie, M.R.6    Giles, G.G.7    Hopper, J.L.8    Southey, M.C.9
  • 23
    • 84876083286 scopus 로고    scopus 로고
    • Breast Cancer Information Core
    • Breast Cancer Information Core. , http://research.nhgri.nih.gov/bic/
  • 24
    • 0034333036 scopus 로고    scopus 로고
    • Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients
    • 10.1016/S0360-3016(00)00728-8, 11072151
    • Leong T, Whitty J, Keilar M, Mifsud S, Ramsay J, Birrell G, Venter D, Southey M, McKay M. Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients. Int J Radiat Oncol Biol Phys 2000, 48:959-965. 10.1016/S0360-3016(00)00728-8, 11072151.
    • (2000) Int J Radiat Oncol Biol Phys , vol.48 , pp. 959-965
    • Leong, T.1    Whitty, J.2    Keilar, M.3    Mifsud, S.4    Ramsay, J.5    Birrell, G.6    Venter, D.7    Southey, M.8    McKay, M.9
  • 25
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • 10.1093/nar/gnf056, 117299, 12060695
    • Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57. 10.1093/nar/gnf056, 117299, 12060695.
    • (2002) Nucleic Acids Res , vol.30
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6
  • 26
    • 33847682259 scopus 로고    scopus 로고
    • BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study
    • 10.1016/j.ejca.2007.01.011, 2222980, 17317153
    • Smith LD, Tesoriero AA, Ramus SJ, Dite G, Royce SG, Giles GG, McCredie MRE, Hopper JL, Southey MC. BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study. Eur J Cancer 2007, 43:823-827. 10.1016/j.ejca.2007.01.011, 2222980, 17317153.
    • (2007) Eur J Cancer , vol.43 , pp. 823-827
    • Smith, L.D.1    Tesoriero, A.A.2    Ramus, S.J.3    Dite, G.4    Royce, S.G.5    Giles, G.G.6    McCredie, M.R.E.7    Hopper, J.L.8    Southey, M.C.9
  • 29
    • 0032826284 scopus 로고    scopus 로고
    • Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2
    • Australian Breast Cancer Family Study
    • Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, Easton DF, Venter DJ, . Australian Breast Cancer Family Study Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Cancer Epidemiol Biomarkers Prev 1999, 8:741-747. Australian Breast Cancer Family Study.
    • (1999) Cancer Epidemiol Biomarkers Prev , vol.8 , pp. 741-747
    • Hopper, J.L.1    Southey, M.C.2    Dite, G.S.3    Jolley, D.J.4    Giles, G.G.5    McCredie, M.R.6    Easton, D.F.7    Venter, D.J.8
  • 30
    • 0142155624 scopus 로고    scopus 로고
    • Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family for Breast Cancer Studies
    • 10.1136/jmg.40.8.e91, 1735565, 12920083, Ontario Cancer Genetics Network
    • Ozcelik H, Knight JA, Glendon G, Yazici H, Carson N, Ainsworth PJ, Taylor SA, Feilotter H, Carter RF, Boyd NF, Andrulis IL, . Ontario Cancer Genetics Network Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family for Breast Cancer Studies. J Med Genet 2003, 40:e91. 10.1136/jmg.40.8.e91, 1735565, 12920083, Ontario Cancer Genetics Network.
    • (2003) J Med Genet , vol.40
    • Ozcelik, H.1    Knight, J.A.2    Glendon, G.3    Yazici, H.4    Carson, N.5    Ainsworth, P.J.6    Taylor, S.A.7    Feilotter, H.8    Carter, R.F.9    Boyd, N.F.10    Andrulis, I.L.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.