메뉴 건너뛰기




Volumn 37, Issue 1 SUPPL. 1, 2014, Pages 234-240

Prevalence and impact of founder mutations in hereditary breast cancer in Latin America

Author keywords

BRCA1; BRCA2; Breast cancer genes; Cancer predisposition; TP53

Indexed keywords

BRCA2 PROTEIN; PROTEIN P53;

EID: 84901670506     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572014000200009     Document Type: Article
Times cited : (31)

References (54)
  • 11
    • 36448996703 scopus 로고    scopus 로고
    • Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    • Fackenthal JD and 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
  • 14
    • 84870288889 scopus 로고    scopus 로고
    • Descriptive epidemiology and molecular genetics of hereditary breast cancer in Costa Rica
    • García-Jiménez L, Gutiérrez-Espeleta G and Narod SA (2012) Descriptive epidemiology and molecular genetics of hereditary breast cancer in Costa Rica. Rev Biol Trop 60:1663-1668.
    • (2012) Rev Biol Trop , vol.60 , pp. 1663-1668
    • García-Jiménez, L.1    Gutiérrez-Espeleta, G.2    Narod, S.A.3
  • 22
    • 33745910586 scopus 로고    scopus 로고
    • High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)
    • Infante M, Durán M, Esteban-Cardeñosa E, Miner C and Velasco E (2006) High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain). J Hum Genet 51:611-617.
    • (2006) J Hum Genet , vol.51 , pp. 611-617
    • Infante, M.1    Durán, M.2    Esteban-Cardeñosa, E.3    Miner, C.4    Velasco, E.5
  • 23
    • 0036781484 scopus 로고    scopus 로고
    • Frequency of the 185delAG mutation in the BRCA1 gene in Chilean healthy women with family history of breast cancer
    • Jara L, Ampuero S, Seccia L, Bustamante M, Blanco R, Santibañez E, Reyes JM and Ojeda JM (2002a) Frequency of the 185delAG mutation in the BRCA1 gene in Chilean healthy women with family history of breast cancer. Rev Med Chil 130:1113-1123.
    • (2002) Rev Med Chil , vol.130 , pp. 1113-1123
    • Jara, L.1    Ampuero, S.2    Seccia, L.3    Bustamante, M.4    Blanco, R.5    Santibañez, E.6    Reyes, J.M.7    Ojeda, J.M.8
  • 24
    • 0036078537 scopus 로고    scopus 로고
    • Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
    • Jara L, Ampuero S, Seccia L, Bustamante M, Blanco R and Ojeda JM (2002b) Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer. Biol Res 35:85-93.
    • (2002) Biol Res , vol.35 , pp. 85-93
    • Jara, L.1    Ampuero, S.2    Seccia, L.3    Bustamante, M.4    Blanco, R.5    Ojeda, J.M.6
  • 27
    • 0037471838 scopus 로고    scopus 로고
    • Prediction of pathogenic mutations in patients with early-onset breast cancer by family history
    • and Early Onset Breast Cancer Study Group
    • Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharoah P, Evans DG and Early Onset Breast Cancer Study Group (2003) Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 361:1101-1102.
    • (2003) Lancet , vol.361 , pp. 1101-1102
    • Lalloo, F.1    Varley, J.2    Ellis, D.3    Moran, A.4    O'Dair, L.5    Pharoah, P.6    Evans, D.G.7
  • 28
    • 84866135226 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela
    • Lara K, Consigliere N, Pérez J, and Porco A (2012) BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Biol Res 45:117-130.
    • (2012) Biol Res , vol.45 , pp. 117-130
    • Lara, K.1    Consigliere, N.2    Pérez, J.3    Porco, A.4
  • 29
    • 51449120932 scopus 로고    scopus 로고
    • Concise Handbook of Familial Cancer Susceptibility Syndromes Second Edition
    • Lindor NM, McMaster ML and Lindor CJ (2008) Concise Handbook of Familial Cancer Susceptibility Syndromes Second Edition. J Natl Cancer Inst Monogr 38:1-93
    • (2008) J Natl Cancer Inst Monogr , vol.38 , pp. 1-93
    • Lindor, N.M.1    McMaster, M.L.2    Lindor, C.J.3
  • 31
    • 34249932412 scopus 로고    scopus 로고
    • Screening for a large BRCA2 rearrangement in high-risk breast-ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes
    • Machado PM, Brandão RD, Cavaco BM, Eugenio J, Bento S, Nave M, Rodriguez P, Fernandez A and Vaz F (2007) Screening for a large BRCA2 rearrangement in high-risk breast-ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 25:2027-2034.
    • (2007) J Clin Oncol , vol.25 , pp. 2027-2034
    • Machado, P.M.1    Brandão, R.D.2    Cavaco, B.M.3    Eugenio, J.4    Bento, S.5    Nave, M.6    Rodriguez, P.7    Fernandez, A.8    Vaz, F.9
  • 34
    • 84901657752 scopus 로고    scopus 로고
    • The tip of the iceberg. A countercurrent series
    • Narod S (2012) The tip of the iceberg. A countercurrent series. Curr Oncol 19:3.
    • (2012) Curr Oncol , vol.19 , pp. 3
    • Narod, S.1
  • 35
  • 39
    • 34248379012 scopus 로고    scopus 로고
    • Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database
    • Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, and Olivier M (2007) Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database. Hum Mutat 28:622-629.
    • (2007) Hum Mutat , vol.28 , pp. 622-629
    • Petitjean, A.1    Mathe, E.2    Kato, S.3    Ishioka, C.4    Tavtigian, S.V.5    Hainaut, P.6    Olivier, M.7
  • 43
    • 70350457820 scopus 로고    scopus 로고
    • Mutations in the BRCA1 gene (185delAG and 5382insC) are not present in any of the 30 breast cancer patients analyzed from eastern Colombia
    • Sanabria MC, Muñioz G and Vargas CI (2009) Mutations in the BRCA1 gene (185delAG and 5382insC) are not present in any of the 30 breast cancer patients analyzed from eastern Colombia. Biomedica 29:61-72.
    • (2009) Biomedica , vol.29 , pp. 61-72
    • Sanabria, M.C.1    Muñioz, G.2    Vargas, C.I.3
  • 44
    • 79960839975 scopus 로고    scopus 로고
    • Genomic rearrangements of the BRCA1 gene in Chilean breast cancer families: An MLPA analysis
    • Sanchez A, Faundez P and Carvallo P (2011) Genomic rearrangements of the BRCA1 gene in Chilean breast cancer families: An MLPA analysis. Breast Cancer Res Treat 128:845-853.
    • (2011) Breast Cancer Res Treat , vol.128 , pp. 845-853
    • Sanchez, A.1    Faundez, P.2    Carvallo, P.3
  • 52
    • 84901679699 scopus 로고    scopus 로고
    • Genetics, genomics, and cancer risk assessment: State of the art and future directions in the era of personalized medicine
    • [Epub ahead of print]
    • Weitzel JN, Blazer KR, Macdonald DJ, Culvert JO and Offit K (2013) Genetics, genomics, and cancer risk assessment: State of the art and future directions in the era of personalized medicine. CA Cancer J Clin [Epub ahead of print].
    • (2013) CA Cancer J Clin
    • Weitzel, J.N.1    Blazer, K.R.2    Macdonald, D.J.3    Culvert, J.O.4    Offit, K.5
  • 53
    • 84872579612 scopus 로고    scopus 로고
    • Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: A report from the Clinical Cancer Genetics Community Research Network
    • Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, et al. (2013) Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: A report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol 31:210-216.
    • (2013) J Clin Oncol , vol.31 , pp. 210-216
    • Weitzel, J.N.1    Clague, J.2    Martir-Negron, A.3    Ogaz, R.4    Herzog, J.5    Ricker, C.6    Jungbluth, C.7    Cina, C.8    Duncan, P.9    Unzeitig, G.10
  • 54
    • 84901679694 scopus 로고    scopus 로고
    • International Agency for Research on Cancer (IARC)
    • International Agency for Research on Cancer (IARC) http://p53.iarc.fr/TP53GeneVariations.aspx


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.