-
1
-
-
33748110809
-
Breast cancer susceptibility testing: Past, present and future
-
8
-
Goldberg JI, Borgen JI (2006) Breast cancer susceptibility testing: past, present and future. Expert Rev Anticancer Ther 6(8):1205-1214
-
(2006)
Expert Rev Anticancer Ther
, vol.6
, pp. 1205-1214
-
-
Goldberg, J.I.1
Borgen, J.I.2
-
2
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
Swensen, J.2
Shattuck-Eidens, D.3
-
3
-
-
0006713602
-
Identification of the breast cancer susceptibility gene BRCA2
-
Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792
-
(1995)
Nature
, vol.378
, pp. 789-792
-
-
Wooster, R.1
Bignell, G.2
Lancaster, J.3
-
4
-
-
4544336084
-
Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2
-
Goldgar DE, Easton DF, Deffenbaugh AM et al (2004) Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 75:535-544
-
(2004)
Am J Hum Genet
, vol.75
, pp. 535-544
-
-
Goldgar, D.E.1
Easton, D.F.2
Deffenbaugh, A.M.3
-
5
-
-
12544252133
-
Functional evaluation and cancer risk assessment of BRCA2 unclassified variants
-
2
-
Wu K, Hinson SR, Ohashi A et al (2005) Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 65(2):417-426
-
(2005)
Cancer Res
, vol.65
, pp. 417-426
-
-
Wu, K.1
Hinson, S.R.2
Ohashi, A.3
-
6
-
-
0030902227
-
Population genetics of BRCA1 and BRCA2
-
Szabo CI, King MC (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60:1013-1020
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1013-1020
-
-
Szabo, C.I.1
King, M.C.2
-
7
-
-
34247542087
-
CHEK2 1100delC is present in familial breast cancer cases of the Basque Country
-
DOI 10.1007/s10549-0069351-4
-
Martinez-Bouzas C, Beristain E, Guerra I et al (2006) CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat. DOI 10.1007/s10549-0069351-4
-
(2006)
Breast Cancer Res Treat
-
-
Martinez-Bouzas, C.1
Beristain, E.2
Guerra, I.3
-
8
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
3
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16(3):1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
9
-
-
0037389808
-
Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-León: Identification of four novel truncating mutations
-
Duran M, Esteban-Cardenosa E, Velasco E et al (2003) Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-León: identification of four novel truncating mutations. Hum Mutat 21:448
-
(2003)
Hum Mutat
, vol.21
, pp. 448
-
-
Duran, M.1
Esteban-Cardenosa, E.2
Velasco, E.3
-
10
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
-
Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci 90:10325-10329
-
(1993)
Proc Natl Acad Sci
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.J.2
Prockop, D.J.3
-
11
-
-
0034526068
-
Transcription of the FMRN1 gene in individuals with fragile X syndrome
-
3
-
Tasonne F, Hagerman RJ, Chamberlain WD et al (2000) Transcription of the FMRN1 gene in individuals with fragile X syndrome. Am J Med Genet 97(3):195-203
-
(2000)
Am J Med Genet
, vol.97
, pp. 195-203
-
-
Tasonne, F.1
Hagerman, R.J.2
Chamberlain, W.D.3
-
12
-
-
33745910586
-
High proportion of novel mutations of BRCA1 and BRCA2 in breast cancer patients from Castilla-León (central Spain)
-
Infante M, Durán M, Esteban-Cardeñosa E et al (2006) High proportion of novel mutations of BRCA1 and BRCA2 in breast 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
-
13
-
-
10744232814
-
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
-
Diez O, Osorio A, Durán M et al (2003) Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 22:301-312
-
(2003)
Hum Mutat
, vol.22
, pp. 301-312
-
-
Diez, O.1
Osorio, A.2
Durán, M.3
-
14
-
-
33745616595
-
Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families
-
1
-
Giannini G, Capalbo C, Ristori E et al (2006) Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. Breast Cancer Res Treat 100(1):83-91
-
(2006)
Breast Cancer Res Treat
, vol.100
, pp. 83-91
-
-
Giannini, G.1
Capalbo, C.2
Ristori, E.3
-
15
-
-
32244439893
-
BRCA1-2 mutations in breast cancer: Identification of nine new variants of BRCA1-2 genes in a population from central Western Spain
-
Salazar R, Cruz-Hernández JJ, Sanchez-Valdivieso E et al (2006) BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain. Cancer Lett 233:172-177
-
(2006)
Cancer Lett
, vol.233
, pp. 172-177
-
-
Salazar, R.1
Cruz-Hernández, J.J.2
Sanchez-Valdivieso, E.3
-
16
-
-
0036466857
-
Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing
-
de la Hoya M, Osorio A, Godino J et al (2002) Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer 97:466-471
-
(2002)
Int J Cancer
, vol.97
, pp. 466-471
-
-
De La Hoya, M.1
Osorio, A.2
Godino, J.3
-
17
-
-
0037389269
-
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain
-
4
-
Campos B, Diez O, Odefrey F et al (2003) Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain. Hum Mutat 21(4):452-457
-
(2003)
Hum Mutat
, vol.21
, pp. 452-457
-
-
Campos, B.1
Diez, O.2
Odefrey, F.3
-
18
-
-
2142744874
-
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain
-
4
-
Campos B, Diez O, Domènech M et al (2003) RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. Hum Mutat 22(4):337
-
(2003)
Hum Mutat
, vol.22
, pp. 337
-
-
Campos, B.1
Diez, O.2
Domènech, M.3
-
19
-
-
0037610801
-
Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex
-
10
-
Brzovic PS, Keeffe JR, Nishikawa H et al (2003) Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. PNAS 100(10):5646-5651
-
(2003)
PNAS
, vol.100
, pp. 5646-5651
-
-
Brzovic, P.S.1
Keeffe, J.R.2
Nishikawa, H.3
-
20
-
-
0037052688
-
Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer
-
Osorio A, de la Hoya M, Rodriguez-Lopez R et al (2002) Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. Int J Cancer 99:305-309
-
(2002)
Int J Cancer
, vol.99
, pp. 305-309
-
-
Osorio, A.1
De La Hoya, M.2
Rodriguez-Lopez, R.3
-
21
-
-
2542543477
-
Structure-based assessment of missense mutations in human BRCA1: Implications for breast and ovarian cancer predisposition
-
Mirkovic N, Marti-Renom MA, Weber BL et al (2004) Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res 64:3790-3797
-
(2004)
Cancer Res
, vol.64
, pp. 3790-3797
-
-
Mirkovic, N.1
Marti-Renom, M.A.2
Weber, B.L.3
-
22
-
-
0037427075
-
Interaction between BRCA2 and replication protein a is compromised by a cancer-predisposing mutation in BRCA2
-
Wong JMS, Ionescu D, Ingles CJ (2003) Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2. Oncogene 22:28-33
-
(2003)
Oncogene
, vol.22
, pp. 28-33
-
-
Wong, J.M.S.1
Ionescu, D.2
Ingles, C.J.3
-
24
-
-
19944414645
-
Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer
-
Martin ST, Matsubayashi H, Rogers CD et al (2005) Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene 24:3652-3656
-
(2005)
Oncogene
, vol.24
, pp. 3652-3656
-
-
Martin, S.T.1
Matsubayashi, H.2
Rogers, C.D.3
-
25
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
13
-
Cartegni L, Wang J, Zhu Z et al (2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31(13):3568-3571
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
-
26
-
-
35748959847
-
BRCA1/BRCA2 missense mutations in African-American breast cancer patients
-
Paper presented at the University of Miami, Miami, Florida, USA, 31 Jan-4 Feb 2004
-
Baumbach L, Gayol L, Monteiro A et al (2004) BRCA1/BRCA2 missense mutations in African-American breast cancer patients. Paper presented at the 2004 miami nature biotechnology winter symposium, the Cell Cycle, chromosomes and cancer, University of Miami, Miami, Florida, USA, 31 Jan-4 Feb 2004
-
(2004)
2004 Miami Nature Biotechnology Winter Symposium, the Cell Cycle, Chromosomes and Cancer
-
-
Baumbach, L.1
Gayol, L.2
Monteiro, A.3
-
27
-
-
0037222306
-
Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene
-
Edwards SM, Kote-jarai Z, Meitz J et al (2003) Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 72:1-12
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1-12
-
-
Edwards, S.M.1
Kote-Jarai, Z.2
Meitz, J.3
-
28
-
-
0038207961
-
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
-
3
-
Claes K, Poppe B, Machackova E et al (2003) Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 37(3):314-320
-
(2003)
Genes Chromosomes Cancer
, vol.37
, pp. 314-320
-
-
Claes, K.1
Poppe, B.2
MacHackova, E.3
-
29
-
-
20344371483
-
Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg
-
3
-
Grudinina NA, Golubkov VI, Tikhomirova OS et al (2005) Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg. Genetika 41(3):405-410
-
(2005)
Genetika
, vol.41
, pp. 405-410
-
-
Grudinina, N.A.1
Golubkov, V.I.2
Tikhomirova, O.S.3
|