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Volumn 21, Issue 1, 2012, Pages 134-147

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: Results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA)

(133)  Mavaddat, Nasim a   Barrowdale, Daniel a   Andrulis, Irene L b,d   Domchek, Susan M g   Eccles, Diana i   Nevanlinna, Heli j   Ramus, Susan J k   Spurdle, Amanda m   Robson, Mark c   Sherman, Mark n   Mulligan, Anna Marie d,e   Couch, Fergus J o   Engel, Christoph p   McGuffog, Lesley a   Healey, Sue m   Sinilnikova, Olga M q,r   Southey, Melissa C s   Terry, Mary Beth c   Goldgar, David u   O'Malley, Frances b,d   more..


Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CARRIER PROTEIN; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

EID: 84862907494     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-11-0775     Document Type: Article
Times cited : (519)

References (47)
  • 1
    • 0032400785 scopus 로고    scopus 로고
    • The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: A population-based study
    • DOI 10.1002/(SICI)1097-0142(19981201)83:11<2335::AID-CNCR13>3.0. CO;2-N
    • Armes JE, Egan AJ, Southey MC, Dite GS, McCredie MR, Giles GG, et al. The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study. Cancer 1998;83:2335-45. (Pubitemid 28533503)
    • (1998) Cancer , vol.83 , Issue.11 , 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
  • 6
    • 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
    • DOI 10.1200/JCO.2002.09.023
    • Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, 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;20:2310-8. (Pubitemid 34441658)
    • (2002) Journal of Clinical Oncology , vol.20 , Issue.9 , pp. 2310-2318
    • Lakhani, S.R.1    Van De, V.M.J.2    Jacquemier, J.3    Anderson, T.J.4    Osin, P.P.5    McGuffog, L.6    Easton, D.F.7
  • 7
    • 0034332555 scopus 로고    scopus 로고
    • Immunophenotypic and pathologic differences between BRCA1 and BRCA2 hereditary breast cancers
    • Phillips KA. Immunophenotypic and pathologic differences between BRCA1 and BRCA2 hereditary breast cancers. J Clin Oncol 2000;18:107S-12S.
    • (2000) J Clin Oncol , vol.18
    • Phillips, K.A.1
  • 8
    • 77956032288 scopus 로고    scopus 로고
    • Estrogen receptor positive breast cancers in BRCA1 mutation carriers: Clinical risk factors and pathologic features
    • Tung N, Wang Y, Collins LC, Kaplan J, Li H, Gelman R, et al. Estrogen receptor positive breast cancers in BRCA1 mutation carriers: clinical risk factors and pathologic features. Breast Cancer Res 2010;12:R12.
    • (2010) Breast Cancer Res , vol.12
    • Tung, N.1    Wang, Y.2    Collins, L.C.3    Kaplan, J.4    Li, H.5    Gelman, R.6
  • 10
    • 52049086689 scopus 로고    scopus 로고
    • Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer
    • Atchley DP, Albarracin CT, Lopez A, Valero V, Amos CI, Gonzalez-Angulo AM, et al. Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol 2008;26:4282-8.
    • (2008) J Clin Oncol , vol.26 , pp. 4282-4288
    • Atchley, D.P.1    Albarracin, C.T.2    Lopez, A.3    Valero, V.4    Amos, C.I.5    Gonzalez-Angulo, A.M.6
  • 14
    • 0030792818 scopus 로고    scopus 로고
    • Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women
    • DOI 10.1002/(SICI)1097-0142(19970801)80:3<435::AID-CNCR11>3.0.CO;2- Y
    • Karp SE, Tonin PN, Begin LR, Martinez JJ, Zhang JC, Pollak MN, et al. Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women. Cancer 1997;80:435-41. (Pubitemid 27323413)
    • (1997) Cancer , vol.80 , Issue.3 , pp. 435-441
    • Karp, S.E.1    Tonin, P.N.2    Begin, L.R.3    Martinez, J.J.4    Zhang, J.C.5    Pollak, M.N.6    Foulkes, W.D.7
  • 15
    • 0032528215 scopus 로고    scopus 로고
    • Steroid receptors in hereditary breast carcinomas associated with BRCA1 or BRCA2 mutations or unknown susceptibility genes
    • DOI 10.1002/(SICI)1097-0142(19980715)83:2<310::AID-CNCR15>3.0.CO;2- W
    • Loman N, Johannsson O, Bendahl PO, Borg A, Ferno M, Olsson H. Steroid receptors in hereditary breast carcinomas associated with BRCA1 or BRCA2 mutations or unknown susceptibility genes. Cancer 1998;83:310-9. (Pubitemid 28317811)
    • (1998) Cancer , vol.83 , Issue.2 , pp. 310-319
    • Loman, N.1    Johannsson, O.2    Bendahl, P.-O.3    Borg, A.4    Ferno, M.5    Olsson, H.6
  • 19
    • 78650180643 scopus 로고    scopus 로고
    • The contribution of breast cancer pathology to statistical models to predict mutation risk in BRCA carriers
    • Vargas AC, Silva LD, Lakhani SR. The contribution of breast cancer pathology to statistical models to predict mutation risk in BRCA carriers. Fam Cancer 2010;9:545-53.
    • (2010) Fam Cancer , vol.9 , pp. 545-553
    • Vargas, A.C.1    Silva, L.D.2    Lakhani, S.R.3
  • 25
    • 34250164598 scopus 로고    scopus 로고
    • An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: The Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    • Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res 2007;9:104.
    • (2007) Breast Cancer Res , vol.9 , pp. 104
    • Chenevix-Trench, G.1    Milne, R.L.2    Antoniou, A.C.3    Couch, F.J.4    Easton, D.F.5    Goldgar, D.E.6
  • 26
    • 0036848138 scopus 로고    scopus 로고
    • The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
    • Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 2002;11:2805-14. (Pubitemid 35331813)
    • (2002) Human Molecular Genetics , vol.11 , Issue.23 , pp. 2805-2814
    • Perrin-Vidoz, L.1    Sinilnikova, O.M.2    Stoppa-Lyonnet, D.3    Lenoir, G.M.4    Mazoyer, S.5
  • 28
    • 33749034203 scopus 로고    scopus 로고
    • The 185delAG mutation (c.68-69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon
    • DOI 10.1002/humu.20384
    • Buisson M, Anczukow O, Zetoune AB, Ware MD, Mazoyer S. The 185delAG mutation (c.68-69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum Mutat 2006;27:1024-9. (Pubitemid 44454055)
    • (2006) Human Mutation , vol.27 , Issue.10 , pp. 1024-1029
    • Buisson, M.1    Anczukow, O.2    Zetoune, A.B.3    Ware, M.D.4    Mazoyer, S.5
  • 30
    • 0035125062 scopus 로고    scopus 로고
    • Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
    • DOI 10.1086/318181
    • Thompson D, Easton D. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001;68:410-9. (Pubitemid 32147810)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.2 , pp. 410-419
    • Thompson, D.1    Easton, D.2
  • 31
    • 84873610078 scopus 로고    scopus 로고
    • National Cancer Institute, DCCPS, Surveillance Research Program, Cancer Statistics Branch, released April 2009, based on the November 2008 submission
    • Surveillance, Epidemiology, and End Results (SEER) Program Limited-Use Data (1973-2006), National Cancer Institute, DCCPS, Surveillance Research Program, Cancer Statistics Branch, released April 2009, based on the November 2008 submission. www.seer.cancer.gov/.
    • Surveillance, Epidemiology, and End Results (SEER) Program Limited-Use Data (1973-2006)
  • 32
    • 78650874810 scopus 로고    scopus 로고
    • Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers
    • Tung N, Miron A, Schnitt SJ, Gautam S, Fetten K, Kaplan J, et al. Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers. Breast Cancer Res 2010;12:R95.
    • (2010) Breast Cancer Res , vol.12
    • Tung, N.1    Miron, A.2    Schnitt, S.J.3    Gautam, S.4    Fetten, K.5    Kaplan, J.6
  • 33
    • 77956624542 scopus 로고    scopus 로고
    • Are estrogen receptor-positive breast cancers in BRCA1 mutation carriers sporadic?
    • Lakhani SR, Khanna KK, Chenevix-Trench G. Are estrogen receptor-positive breast cancers in BRCA1 mutation carriers sporadic? Breast Cancer Res 2010;12:104.
    • (2010) Breast Cancer Res , vol.12 , pp. 104
    • Lakhani, S.R.1    Khanna, K.K.2    Chenevix-Trench, G.3
  • 34
    • 33644801945 scopus 로고    scopus 로고
    • Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families
    • Eerola H, Heikkila P, Tamminen A, Aittomaki K, Blomqvist C, Nevanlinna H. Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families. Breast Cancer Res 2005;7:R465-9.
    • (2005) Breast Cancer Res , vol.7
    • Eerola, H.1    Heikkila, P.2    Tamminen, A.3    Aittomaki, K.4    Blomqvist, C.5    Nevanlinna, H.6
  • 35
    • 0036838070 scopus 로고    scopus 로고
    • Estrogen receptor breast cancer phenotypes in the Surveillance, Epidemiology, and End Results database
    • DOI 10.1023/A:1020299707510
    • Anderson WF, Chatterjee N, Ershler WB, Brawley OW. Estrogen receptor breast cancer phenotypes in the Surveillance, Epidemiology, and End Results database. Breast Cancer Res Treat 2002;76:27-36. (Pubitemid 35178626)
    • (2002) Breast Cancer Research and Treatment , vol.76 , Issue.1 , pp. 27-36
    • Anderson, W.F.1    Chatterjee, N.2    Ershler, W.B.3    Brawley, O.W.4
  • 36
    • 72749102465 scopus 로고    scopus 로고
    • Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing
    • Evans DG, Lalloo F, Cramer A, Jones EA, Knox F, Amir E, et al. Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 2009;46:811-7.
    • (2009) J Med Genet , vol.46 , pp. 811-817
    • Evans, D.G.1    Lalloo, F.2    Cramer, A.3    Jones, E.A.4    Knox, F.5    Amir, E.6
  • 38
    • 48949119472 scopus 로고    scopus 로고
    • Incorporating tumor immunohistochemical markers in BRCA1 and BRCA2 carrier prediction
    • Tai YC, Chen S, Parmigiani G, Klein AP. Incorporating tumor immunohistochemical markers in BRCA1 and BRCA2 carrier prediction. Breast Cancer Res 2008;10:401.
    • (2008) Breast Cancer Res , vol.10 , pp. 401
    • Tai, Y.C.1    Chen, S.2    Parmigiani, G.3    Klein, A.P.4
  • 42
    • 37549018923 scopus 로고    scopus 로고
    • Estrogen receptor status could modulate the genomic pattern in familial and sporadic breast cancer
    • Melchor L, Honrado E, Huang J, Alvarez S, Naylor TL, Garcia MJ, et al. Estrogen receptor status could modulate the genomic pattern in familial and sporadic breast cancer. Clin Cancer Res 2007;13:7305-13.
    • (2007) Clin Cancer Res , vol.13 , pp. 7305-7313
    • Melchor, L.1    Honrado, E.2    Huang, J.3    Alvarez, S.4    Naylor, T.L.5    Garcia, M.J.6
  • 43
    • 43749085080 scopus 로고    scopus 로고
    • Distinct genomic aberration patterns are found in familial breast cancer associated with different immunohistochemical subtypes
    • DOI 10.1038/sj.onc.1210975, PII 1210975
    • Melchor L, Honrado E, Garcia MJ, Alvarez S, Palacios J, Osorio A, et al. Distinct genomic aberration patterns are found in familial breast cancer associated with different immunohistochemical subtypes. Oncogene 2008;27:3165-75. (Pubitemid 351693170)
    • (2008) Oncogene , vol.27 , Issue.22 , pp. 3165-3175
    • Melchor, L.1    Honrado, E.2    Garcia, M.J.3    Alvarez, S.4    Palacios, J.5    Osorio, A.6    Nathanson, K.L.7    Benitez, J.8
  • 44
    • 79551621885 scopus 로고    scopus 로고
    • Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers
    • Milne RL, Antoniou AC. Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Ann Oncol 2011;22 Suppl 1:i11-17.
    • (2011) Ann Oncol , vol.22 , Issue.SUPPL. 1
    • Milne, R.L.1    Antoniou, A.C.2
  • 45
    • 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, Pooley K, Morrison J, Richesson DA, 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    Pooley, K.4    Morrison, J.5    Richesson, D.A.6
  • 46
    • 80053366674 scopus 로고    scopus 로고
    • Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium
    • Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, et al. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet 2011;20:3289-303.
    • (2011) Hum Mol Genet , vol.20 , pp. 3289-3303
    • Broeks, A.1    Schmidt, M.K.2    Sherman, M.E.3    Couch, F.J.4    Hopper, J.L.5    Dite, G.S.6
  • 47
    • 80055117035 scopus 로고    scopus 로고
    • Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2
    • Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, et al. Common breast cancer susceptibility alleles are associated with tumor 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    Domchek, S.M.4    Eccles, D.5    Nevanlinna, H.6


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