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Volumn 126, Issue 3, 2011, Pages 705-716

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families

Author keywords

BRCA1 2; Breast cancer; Chilean population; LGRs; Recurrent mutations

Indexed keywords

ADULT; ARTICLE; BREAST CANCER; CANCER RISK; CHILE; CONTROLLED STUDY; FAMILY; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC VARIABILITY; HIGH RISK POPULATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ONCOGENE; OVARY CANCER; POINT MUTATION; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

EID: 79958701431     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-010-1170-y     Document Type: Article
Times cited : (39)

References (44)
  • 3
    • 77955559787 scopus 로고    scopus 로고
    • Ministerio de Salud de Chile Accessed 14 May 2010
    • Departamento de Estadísticas e Información en Salud (2009). Mortalidad en mujeres, Chile, 2006. Ministerio de Salud de Chile. http://deis.minsal.cl/deis/salidas06/causas06.asp?temp=TODAS-EDADES-MYJ.htm. Accessed 14 May 2010
    • (2009) Mortalidad en Mujeres, Chile, 2006
  • 4
    • 76049084362 scopus 로고    scopus 로고
    • Situación epidemiológica del cáncer de mama en Chile 1994-2003
    • Prieto M (2006) Situación epidemiológica del cáncer de mama en Chile 1994-2003. Rev Med Clin Condes 17:142-148
    • (2006) Rev Med Clin Condes , vol.17 , pp. 142-148
    • Prieto, M.1
  • 5
    • 0035995598 scopus 로고    scopus 로고
    • Familial risks of breast cancer
    • DOI 10.1186/bcr448
    • Easton D (2002) Familial risks of breast cancer. Breast Cancer Res 4:179-181 (Pubitemid 34918994)
    • (2002) Breast Cancer Research , vol.4 , Issue.5 , pp. 179-181
    • Easton, D.F.1
  • 11
    • 34248663955 scopus 로고    scopus 로고
    • The single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction: Twenty-something years on
    • Chomczynski P, Sacchi N (2006) The single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction: twenty-something years on. Nat Protoc 1:581-585
    • (2006) Nat Protoc , vol.1 , pp. 581-585
    • Chomczynski, P.1    Sacchi, N.2
  • 12
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • DOI 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
    • den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12 (Pubitemid 30036162)
    • (2000) Human Mutation , vol.15 , Issue.1 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 15
    • 36448996703 scopus 로고    scopus 로고
    • Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    • DOI 10.1038/nrc2054, PII NRC2054
    • Fackenthal JD, Olopade OI (2007) Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 7:937-948 (Pubitemid 350165853)
    • (2007) Nature Reviews Cancer , vol.7 , Issue.12 , pp. 937-948
    • Fackenthal, J.D.1    Olopade, O.I.2
  • 17
    • 77955555901 scopus 로고    scopus 로고
    • Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population
    • doi:10.1007/s10549-009-0709-2
    • Jara L, Dubois K, Gaete D, de Mayo T, Ratkevicius N, Bravo T, Margarit S, Blanco R, Gomez F, Waugh E et al (2010) Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population. Breast Cancer Res Treat 122(3):813-822. doi:10.1007/s10549-009-0709-2
    • (2010) Breast Cancer Res Treat , vol.122 , Issue.3 , pp. 813-822
    • Jara, L.1    Dubois, K.2    Gaete, D.3    De Mayo, T.4    Ratkevicius, N.5    Bravo, T.6    Margarit, S.7    Blanco, R.8    Gomez, F.9    Waugh, E.10
  • 20
    • 0016967987 scopus 로고
    • Origen y evolución étnica de la población Chilena
    • Cruz-Coke R (1976) Origen y evolución étnica de la población chilena. Rev Med Chile 101:365-368
    • (1976) Rev Med Chile , vol.101 , pp. 365-368
    • Cruz-Coke, R.1
  • 21
    • 0017759167 scopus 로고
    • Socioeconomic assortative mating in Santiago, Chile: A demonstration using stochastic matrices of mother child relationships applied to ABO blood groups
    • Valenzuela CY, Harb Z (1977) Socioeconomic assortative mating in Santiago, Chile: as demonstrated using stochastic matrices of mother-child relationships applied to ABO blood groups. Soc Biol 24:225-233 (Pubitemid 8238839)
    • (1977) Social Biology , vol.24 , Issue.3 , pp. 225-233
    • Valenzuela, C.Y.1    Harb, Z.2
  • 22
    • 0023316229 scopus 로고
    • Gradiente sociogenético en la población Chilena
    • Valenzuela CY, Acuña M, Harb Z (1987) Gradiente sociogenético en la población chilena. Rev Med Chile 115:295-299
    • (1987) Rev Med Chile , vol.115 , pp. 295-299
    • Valenzuela, C.Y.1    Acuña, M.2    Harb, Z.3
  • 23
    • 38249027593 scopus 로고
    • On sociogenetic clines
    • Valenzuela CY (1988) On sociogenetic clines. Ethol Sociobiol 9:259-268
    • (1988) Ethol Sociobiol , vol.9 , pp. 259-268
    • Valenzuela, C.Y.1
  • 24
    • 0034164650 scopus 로고    scopus 로고
    • Frequency of germ-line BRCA1 mutations among spanish families from a mediterranean area
    • Blesa JR, Garcia JA, Ochoa E (2000) Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area. Hum Mutat 15:381-382
    • (2000) Hum Mutat , vol.15 , pp. 381-382
    • Blesa, J.R.1    Garcia, J.A.2    Ochoa, E.3
  • 25
    • 77955058679 scopus 로고    scopus 로고
    • Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: Implications for genetic testing
    • Diez O, Gutierrez-Enriquez S, Balmana J (2010) Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing. Fam Cancer 9:187-191
    • (2010) Fam Cancer , vol.9 , pp. 187-191
    • Diez, O.1    Gutierrez-Enriquez, S.2    Balmana, J.3
  • 26
    • 33745910586 scopus 로고    scopus 로고
    • High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)
    • DOI 10.1007/s10038-006-0404-7
    • Infante M, Duran M, Esteban-Cardenosa E, Miner C, Velasco E (2006) High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-Leon (central Spain). J Hum Genet 51:611-617 (Pubitemid 44048694)
    • (2006) Journal of Human Genetics , vol.51 , Issue.7 , pp. 611-617
    • Infante, M.1    Duran, M.2    Esteban-Cardenosa, E.3    Miner, C.4    Velasco, E.5
  • 31
    • 3242878504 scopus 로고    scopus 로고
    • DNA recombination, chromosomal stability and carcinogenesis: Insights into the role of BRCA2
    • DOI 10.1016/j.dnarep.2004.03.008, PII S1568786404000679
    • Shivji MK, Venkitaraman AR (2004) DNA recombination, chromosomal stability and carcinogenesis: insights into the role of BRCA2. DNA Repair (Amst) 3:835-843 (Pubitemid 38997925)
    • (2004) DNA Repair , vol.3 , Issue.8-9 , pp. 835-843
    • Shivji, M.K.K.1    Venkitaraman, A.R.2
  • 33
    • 2242443513 scopus 로고    scopus 로고
    • Insights into DNA recombination from the structure of a RAD51-BRCA2 complex
    • DOI 10.1038/nature01230
    • Pellegrini L, Yu DS, Lo T, Anand S, Lee M, Blundell TL, Venkitaraman AR (2002) Insights into DNA recombination from the structure of a RAD51-BRCA2 complex. Nature 420: 287-293 (Pubitemid 35398178)
    • (2002) Nature , vol.420 , Issue.6913 , pp. 287-293
    • Pellegrini, L.1    Yu, D.S.2    Lo, T.3    Anand, S.4    Lee, M.5    Blundell, T.L.6    Venkitaraman, A.R.7
  • 35
    • 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
    • doi: 10.1007/s10549-010-0817-z
    • Sluiter MD, van Rensburg EJ (2010) Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Res Treat. doi: 10.1007/s10549-010-0817-z
    • (2010) Breast Cancer Res Treat
    • Sluiter, M.D.1    Van Rensburg, E.J.2
  • 36
    • 27744473914 scopus 로고    scopus 로고
    • Search for large genomic alterations of the BRCA1 gene in a Finnish population
    • DOI 10.1016/j.cancergencyto.2005.05.014, PII S0165460805002785
    • Laurila E, Syrjakoski K, Holli K, Kallioniemi A, Karhu R (2005) Search for large genomic alterations of the BRCA1 gene in a Finnish population. Cancer Genet Cytogenet 163:57-61 (Pubitemid 41597010)
    • (2005) Cancer Genetics and Cytogenetics , vol.163 , Issue.1 , pp. 57-61
    • Laurila, E.1    Syrjakoski, K.2    Holli, K.3    Kallioniemi, A.4    Karhu, R.5
  • 37
    • 44949248224 scopus 로고    scopus 로고
    • Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in finnish breast and ovarian cancer families
    • Pylkas K, Erkko H, Nikkila J, Solyom S, Winqvist R (2008) Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families. BMC Cancer 8:146
    • (2008) BMC Cancer , vol.8 , pp. 146
    • Pylkas, K.1    Erkko, H.2    Nikkila, J.3    Solyom, S.4    Winqvist, R.5
  • 43
    • 34247563394 scopus 로고    scopus 로고
    • Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer
    • DOI 10.1111/j.1399-0004.2007.00773.x
    • Lim YK, Lau PT, Ali AB, Lee SC, Wong JE, Putti TC, Sng JH (2007) Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer. Clin Genet 71:331-342 (Pubitemid 46680798)
    • (2007) Clinical Genetics , vol.71 , Issue.4 , pp. 331-342
    • Lim, Y.K.1    Iau, P.T.C.2    Ali, A.B.3    Lee, S.C.4    Wong, J.-E.5    Putti, T.C.6    Sng, J.-H.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.