메뉴 건너뛰기




Volumn 8, Issue 3, 2013, Pages

Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil

(17)  Carraro, Dirce Maria a,e   Koike Folgueira, Maria Aparecida Azevedo b   Garcia Lisboa, Bianca Cristina a   Ribeiro Olivieri, Eloisa Helena a   Vitorino Krepischi, Ana Cristina a,e   de Carvalho, Alex Fiorini a   de Carvalho Mota, Louise Danielle a   Puga, Renato David a   do Socorro Maciel, Maria a   Michelli, Rodrigo Augusto Depieri c   de Lyra, Eduardo Carneiro d   Grosso, Stana Helena Giorgi d   Soares, Fernando Augusto a   de Souza Waddington Achatz, Maria Isabel Alves a,e   Brentani, Helena b   Moreira Filho, Carlos Alberto b   Brentani, Maria Mitzi b  


Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR; PROTEIN P53;

EID: 84874562871     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0057581     Document Type: Article
Times cited : (70)

References (50)
  • 2
    • 47349121882 scopus 로고    scopus 로고
    • BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases
    • Uhrhammer N, Abdelouahab A, Lafarge L, Feillel V, Ben Dib A, et al. (2008) BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases. Int J Med Sci 5: 197-202.
    • (2008) Int J Med Sci , vol.5 , pp. 197-202
    • Uhrhammer, N.1    Abdelouahab, A.2    Lafarge, L.3    Feillel, V.4    Ben Dib, A.5
  • 3
  • 4
    • 77957110787 scopus 로고    scopus 로고
    • Prognosis and adjuvant treatment effects in selected breast cancer subtypes of very young women (<35 years) with operable breast cancer
    • Cancello G, Maisonneuve P, Rotmensz N, Viale G, Mastropasqua MG, et al. (2010) Prognosis and adjuvant treatment effects in selected breast cancer subtypes of very young women (<35 years) with operable breast cancer. Ann Oncol 21: 1974-1981.
    • (2010) Ann Oncol , vol.21 , pp. 1974-1981
    • Cancello, G.1    Maisonneuve, P.2    Rotmensz, N.3    Viale, G.4    Mastropasqua, M.G.5
  • 5
    • 82955187693 scopus 로고    scopus 로고
    • Patients 35 years old or younger with operable breast cancer are more at risk for relapse and survival: a retrospective matched case-control study
    • Peng R, Wang S, Shi Y, Liu D, Teng X, et al. (2011) Patients 35 years old or younger with operable breast cancer are more at risk for relapse and survival: a retrospective matched case-control study. Breast 20: 568-573.
    • (2011) Breast , vol.20 , pp. 568-573
    • Peng, R.1    Wang, S.2    Shi, Y.3    Liu, D.4    Teng, X.5
  • 8
    • 49149119336 scopus 로고    scopus 로고
    • Young age at diagnosis correlates with worse prognosis and defines a subset of breast cancers with shared patterns of gene expression
    • Anders CK, Hsu DS, Broadwater G, Acharya CR, Foekens JA, et al. (2008) Young age at diagnosis correlates with worse prognosis and defines a subset of breast cancers with shared patterns of gene expression. J Clin Oncol 26: 3324-3330.
    • (2008) J Clin Oncol , vol.26 , pp. 3324-3330
    • Anders, C.K.1    Hsu, D.S.2    Broadwater, G.3    Acharya, C.R.4    Foekens, J.A.5
  • 9
    • 72449125237 scopus 로고    scopus 로고
    • Relationship between age at diagnosis and outcome of premenopausal breast cancer: age less than 35 years is a reasonable cut-off for defining young age-onset breast cancer
    • Society KBC
    • Han W, Kang SY, (2010) Society KBC (2010) Relationship between age at diagnosis and outcome of premenopausal breast cancer: age less than 35 years is a reasonable cut-off for defining young age-onset breast cancer. Breast Cancer Res Treat 119: 193-200.
    • (2010) Breast Cancer Res Treat , vol.119 , pp. 193-200
    • Han, W.1    Kang, S.Y.2
  • 10
    • 0042130413 scopus 로고    scopus 로고
    • Breast cancer in young women: clinicopathological features and biological specificity
    • Sidoni A, Cavaliere A, Bellezza G, Scheibel M, Bucciarelli E, (2003) Breast cancer in young women: clinicopathological features and biological specificity. Breast 12: 247-250.
    • (2003) Breast , vol.12 , pp. 247-250
    • Sidoni, A.1    Cavaliere, A.2    Bellezza, G.3    Scheibel, M.4    Bucciarelli, E.5
  • 11
    • 33745077002 scopus 로고    scopus 로고
    • Breast carcinoma in women 35 years and younger: a pathological study
    • Fernandopulle SM, Cher-Siangang P, Tan PH, (2006) Breast carcinoma in women 35 years and younger: a pathological study. Pathology 38: 219-222.
    • (2006) Pathology , vol.38 , pp. 219-222
    • Fernandopulle, S.M.1    Cher-Siangang, P.2    Tan, P.H.3
  • 12
    • 84857700943 scopus 로고    scopus 로고
    • Elucidating prognosis and biology of breast cancer arising in young women using gene expression profiling
    • Azim HA Jr, Michiels S, Bedard PL, Singhal SK, Criscitiello C, et al. (2012) Elucidating prognosis and biology of breast cancer arising in young women using gene expression profiling. Clin Cancer Res. 1 18(5): 1341-51.
    • (2012) Clin Cancer Res , vol.1-18 , Issue.5 , pp. 1341-1351
    • Azim Jr., H.A.1    Michiels, S.2    Bedard, P.L.3    Singhal, S.K.4    Criscitiello, C.5
  • 13
    • 0036299594 scopus 로고    scopus 로고
    • Very young women (<35 years) with operable breast cancer: features of disease at presentation
    • Colleoni M, Rotmensz N, Robertson C, Orlando L, Viale G, et al. (2002) Very young women (<35 years) with operable breast cancer: features of disease at presentation. Ann Oncol 13: 273-279.
    • (2002) Ann Oncol , vol.13 , pp. 273-279
    • Colleoni, M.1    Rotmensz, N.2    Robertson, C.3    Orlando, L.4    Viale, G.5
  • 15
    • 79953783229 scopus 로고    scopus 로고
    • The prognostic contribution of clinical breast cancer subtype, age, and race among patients with breast cancer brain metastases
    • Anders CK, Deal AM, Miller CR, Khorram C, Meng H, et al. (2011) The prognostic contribution of clinical breast cancer subtype, age, and race among patients with breast cancer brain metastases. Cancer 117: 1602-1611.
    • (2011) Cancer , vol.117 , pp. 1602-1611
    • Anders, C.K.1    Deal, A.M.2    Miller, C.R.3    Khorram, C.4    Meng, H.5
  • 16
    • 33646394043 scopus 로고    scopus 로고
    • BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
    • Lalloo F, Varley J, Moran A, Ellis D, O'dair L, et al. (2006) BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer 42: 1143-1150.
    • (2006) Eur J Cancer , vol.42 , pp. 1143-1150
    • Lalloo, F.1    Varley, J.2    Moran, A.3    Ellis, D.4    O'dair, L.5
  • 17
    • 36448996703 scopus 로고    scopus 로고
    • Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    • Fackenthal JD, Olopade OI, (2007) Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 7: 937-948.
    • (2007) Nat Rev Cancer , vol.7 , pp. 937-948
    • Fackenthal, J.D.1    Olopade, O.I.2
  • 18
    • 70349651005 scopus 로고    scopus 로고
    • Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups
    • Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, et al. (2009) Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Ann Oncol 20: 1653-1659.
    • (2009) Ann Oncol , vol.20 , pp. 1653-1659
    • Haffty, B.G.1    Choi, D.H.2    Goyal, S.3    Silber, A.4    Ranieri, K.5
  • 19
    • 33846850422 scopus 로고    scopus 로고
    • Ten genes for inherited breast cancer
    • Walsh T, King MC, (2007) Ten genes for inherited breast cancer. Cancer Cell 11: 103-105.
    • (2007) Cancer Cell , vol.11 , pp. 103-105
    • Walsh, T.1    King, M.C.2
  • 20
    • 12944286550 scopus 로고    scopus 로고
    • The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2
    • Lakhani SR, Gusterson BA, Jacquemier J, Sloane JP, Anderson TJ, et al. (2000) The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2. Clin Cancer Res 6: 782-789.
    • (2000) Clin Cancer Res , vol.6 , pp. 782-789
    • Lakhani, S.R.1    Gusterson, B.A.2    Jacquemier, J.3    Sloane, J.P.4    Anderson, T.J.5
  • 21
    • 20144387584 scopus 로고    scopus 로고
    • Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers
    • Palacios J, Honrado E, Osorio A, Cazorla A, Sarrió D, et al. (2005) Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers. Breast Cancer Res Treat 90: 5-14.
    • (2005) Breast Cancer Res Treat , vol.90 , pp. 5-14
    • Palacios, J.1    Honrado, E.2    Osorio, A.3    Cazorla, A.4    Sarrió, D.5
  • 22
    • 33847668823 scopus 로고    scopus 로고
    • Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases
    • Brekelmans CT, Tilanus-Linthorst MM, Seynaeve C, vd Ouweland A, Menke-Pluymers MB, et al. (2007) Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases. Eur J Cancer 43: 867-876.
    • (2007) Eur J Cancer , vol.43 , pp. 867-876
    • Brekelmans, C.T.1    Tilanus-Linthorst, M.M.2    Seynaeve, C.3    vd Ouweland, A.4    Menke-Pluymers, M.B.5
  • 24
    • 24744468647 scopus 로고    scopus 로고
    • Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization
    • Jönsson G, Naylor TL, Vallon-Christersson J, Staaf J, Huang J, et al. (2005) Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. Cancer Res 65: 7612-7621.
    • (2005) Cancer Res , vol.65 , pp. 7612-7621
    • Jönsson, G.1    Naylor, T.L.2    Vallon-Christersson, J.3    Staaf, J.4    Huang, J.5
  • 26
    • 33744960226 scopus 로고    scopus 로고
    • Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study
    • Carey LA, Perou CM, Livasy CA, Dressler LG, Cowan D, et al. (2006) Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA 295: 2492-2502.
    • (2006) JAMA , vol.295 , pp. 2492-2502
    • Carey, L.A.1    Perou, C.M.2    Livasy, C.A.3    Dressler, L.G.4    Cowan, D.5
  • 28
    • 66649137392 scopus 로고    scopus 로고
    • [Immunophenotype and evolution of breast carcinomas: a comparison between very young and postmenopausal women]
    • Dutra MC, Rezende MA, de Andrade VP, Soares FA, Ribeiro MV, et al. (2009) [Immunophenotype and evolution of breast carcinomas: a comparison between very young and postmenopausal women]. Rev Bras Ginecol Obstet 31: 54-60.
    • (2009) Rev Bras Ginecol Obstet , vol.31 , pp. 54-60
    • Dutra, M.C.1    Rezende, M.A.2    de Andrade, V.P.3    Soares, F.A.4    Ribeiro, M.V.5
  • 29
    • 77951207155 scopus 로고    scopus 로고
    • Estrogen receptor-positive breast carcinomas in younger women are different from those of older women: a pathological and immunohistochemical study
    • Bacchi LM, Corpa M, Santos PP, Bacchi CE, Carvalho FM, (2010) Estrogen receptor-positive breast carcinomas in younger women are different from those of older women: a pathological and immunohistochemical study. Breast 19: 137-141.
    • (2010) Breast , vol.19 , pp. 137-141
    • Bacchi, L.M.1    Corpa, M.2    Santos, P.P.3    Bacchi, C.E.4    Carvalho, F.M.5
  • 32
    • 34548041416 scopus 로고    scopus 로고
    • Influence of young age at diagnosis and family history of breast or ovarian cancer on breast cancer outcomes in a population-based cohort study
    • Figueiredo JC, Ennis M, Knight JA, McLaughlin JR, Hood N, et al. (2007) Influence of young age at diagnosis and family history of breast or ovarian cancer on breast cancer outcomes in a population-based cohort study. Breast Cancer Res Treat 105: 69-80.
    • (2007) Breast Cancer Res Treat , vol.105 , pp. 69-80
    • Figueiredo, J.C.1    Ennis, M.2    Knight, J.A.3    McLaughlin, J.R.4    Hood, N.5
  • 33
    • 33846676140 scopus 로고    scopus 로고
    • Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus
    • Loizidou M, Marcou Y, Anastasiadou V, Newbold R, Hadjisavvas A, et al. (2007) Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus. Clin Genet 71: 165-170.
    • (2007) Clin Genet , vol.71 , pp. 165-170
    • Loizidou, M.1    Marcou, Y.2    Anastasiadou, V.3    Newbold, R.4    Hadjisavvas, A.5
  • 34
    • 21744458567 scopus 로고    scopus 로고
    • Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France
    • Bonadona V, Sinilnikova OM, Chopin S, Antoniou AC, Mignotte H, et al. (2005) Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France. Genes Chromosomes Cancer 43: 404-413.
    • (2005) Genes Chromosomes Cancer , vol.43 , pp. 404-413
    • Bonadona, V.1    Sinilnikova, O.M.2    Chopin, S.3    Antoniou, A.C.4    Mignotte, H.5
  • 35
    • 64749086562 scopus 로고    scopus 로고
    • The prevalence of BRCA1 mutations among young women with triple-negative breast cancer
    • Young SR, Pilarski RT, Donenberg T, Shapiro C, Hammond LS, et al. (2009) The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer 9: 86.
    • (2009) BMC Cancer , vol.9 , pp. 86
    • Young, S.R.1    Pilarski, R.T.2    Donenberg, T.3    Shapiro, C.4    Hammond, L.S.5
  • 36
    • 82455164247 scopus 로고    scopus 로고
    • Outcome of triple-negative breast cancer in patients with or without deleterious BRCA mutations
    • Bayraktar S, Gutierrez-Barrera AM, Liu D, Tasbas T, Akar U, et al. (2011) Outcome of triple-negative breast cancer in patients with or without deleterious BRCA mutations. Breast Cancer Res Treat 130: 145-153.
    • (2011) Breast Cancer Res Treat , vol.130 , pp. 145-153
    • Bayraktar, S.1    Gutierrez-Barrera, A.M.2    Liu, D.3    Tasbas, T.4    Akar, U.5
  • 37
    • 84858295021 scopus 로고    scopus 로고
    • BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years
    • Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, et al. (2012) BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. Br J Cancer 106: 1234-1238.
    • (2012) Br J Cancer , vol.106 , pp. 1234-1238
    • Robertson, L.1    Hanson, H.2    Seal, S.3    Warren-Perry, M.4    Hughes, D.5
  • 38
    • 70449532098 scopus 로고    scopus 로고
    • The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30
    • Ginsburg OM, Akbari MR, Aziz Z, Young R, Lynch H, et al. (2009) The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30. Fam Cancer 8: 563-567.
    • (2009) Fam Cancer , vol.8 , pp. 563-567
    • Ginsburg, O.M.1    Akbari, M.R.2    Aziz, Z.3    Young, R.4    Lynch, H.5
  • 39
    • 75149183689 scopus 로고    scopus 로고
    • Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
    • Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, et al. (2010) Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat 31: 143-150.
    • (2010) Hum Mutat , vol.31 , pp. 143-150
    • Garritano, S.1    Gemignani, F.2    Palmero, E.I.3    Olivier, M.4    Martel-Planche, G.5
  • 40
    • 33845645820 scopus 로고    scopus 로고
    • The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families
    • Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, et al. (2007) The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett 245: 96-102.
    • (2007) Cancer Lett , vol.245 , pp. 96-102
    • Achatz, M.I.1    Olivier, M.2    Le Calvez, F.3    Martel-Planche, G.4    Lopes, A.5
  • 41
    • 67649300721 scopus 로고    scopus 로고
    • Genes that mediate breast cancer metastasis to the brain
    • Bos PD, Zhang XH, Nadal C, Shu W, Gomis RR, et al. (2009) Genes that mediate breast cancer metastasis to the brain. Nature 459: 1005-1009.
    • (2009) Nature , vol.459 , pp. 1005-1009
    • Bos, P.D.1    Zhang, X.H.2    Nadal, C.3    Shu, W.4    Gomis, R.R.5
  • 42
    • 27144459430 scopus 로고    scopus 로고
    • Gene expression profile associated with response to doxorubicin-based therapy in breast cancer
    • Folgueira MA, Carraro DM, Brentani H, Patrão DF, Barbosa EM, et al. (2005) Gene expression profile associated with response to doxorubicin-based therapy in breast cancer. Clin Cancer Res 11: 7434-7443.
    • (2005) Clin Cancer Res , vol.11 , pp. 7434-7443
    • Folgueira, M.A.1    Carraro, D.M.2    Brentani, H.3    Patrão, D.F.4    Barbosa, E.M.5
  • 43
    • 59449085594 scopus 로고    scopus 로고
    • Evidence that molecular changes in cells occur before morphological alterations during the progression of breast ductal carcinoma
    • Castro NP, Osório CA, Torres C, Bastos EP, Mourão-Neto M, et al. (2008) Evidence that molecular changes in cells occur before morphological alterations during the progression of breast ductal carcinoma. Breast Cancer Res 10: R87.
    • (2008) Breast Cancer Res , vol.10
    • Castro, N.P.1    Osório, C.A.2    Torres, C.3    Bastos, E.P.4    Mourão-Neto, M.5
  • 44
    • 0035845511 scopus 로고    scopus 로고
    • Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications
    • Sørlie T, Perou CM, Tibshirani R, Aas T, Geisler S, et al. (2001) Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci U S A 98: 10869-10874.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 10869-10874
    • Sørlie, T.1    Perou, C.M.2    Tibshirani, R.3    Aas, T.4    Geisler, S.5
  • 45
    • 62449131093 scopus 로고    scopus 로고
    • Supervised risk predictor of breast cancer based on intrinsic subtypes
    • Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, et al. (2009) Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol 27: 1160-1167.
    • (2009) J Clin Oncol , vol.27 , pp. 1160-1167
    • Parker, J.S.1    Mullins, M.2    Cheang, M.C.3    Leung, S.4    Voduc, D.5
  • 47
    • 77954088797 scopus 로고    scopus 로고
    • p140Cap dual regulation of E-cadherin/EGFR cross-talk and Ras signaling in tumour cell scatter and proliferation
    • Damiano L, Di Stefano P, Camacho Leal MP, Barba M, Mainiero F, et al. (2010) p140Cap dual regulation of E-cadherin/EGFR cross-talk and Ras signaling in tumour cell scatter and proliferation. Oncogene 29(25): 3677-90.
    • (2010) Oncogene , vol.29 , Issue.25 , pp. 3677-3690
    • Damiano, L.1    Di Stefano, P.2    Camacho Leal, M.P.3    Barba, M.4    Mainiero, F.5
  • 48
    • 9644281144 scopus 로고    scopus 로고
    • Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy
    • Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, et al. (2004) Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol 44(11): 2192-20.
    • (2004) J Am Coll Cardiol , vol.44 , Issue.11 , pp. 2120-2192
    • Hayashi, T.1    Arimura, T.2    Itoh-Satoh, M.3    Ueda, K.4    Hohda, S.5
  • 50
    • 44949118602 scopus 로고    scopus 로고
    • Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome
    • da Costa EC, Vargas FR, Moreira AS, Lourenço JJ, Caleffi M, et al. (2008) Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome. Cancer Genet Cytogenet 184: 62-66.
    • (2008) Cancer Genet Cytogenet , vol.184 , pp. 62-66
    • da Costa, E.C.1    Vargas, F.R.2    Moreira, A.S.3    Lourenço, J.J.4    Caleffi, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.