-
1
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
Miki Y., Swensen J., Shattuck-Eidens D., Futreal P.A., Harshman K., Tavtigian S., Liu Q., Cochran C., Bennett L.M., and Ding W. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266 (1994) 66-71
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
Swensen, J.2
Shattuck-Eidens, D.3
Futreal, P.A.4
Harshman, K.5
Tavtigian, S.6
Liu, Q.7
Cochran, C.8
Bennett, L.M.9
Ding, W.10
-
2
-
-
0142178215
-
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
-
King M.C., Marks J.H., and Mandell J.B. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302 (2003) 643-646
-
(2003)
Science
, vol.302
, pp. 643-646
-
-
King, M.C.1
Marks, J.H.2
Mandell, J.B.3
-
3
-
-
38049171118
-
Variation of breast cancer risk among BRCA1/2 carriers
-
Begg C.B., Haile R.W., Borg A., Malone K.E., Concannon P., Thomas D.C., Langholz B., Bernstein L., Olsen J.H., Lynch C.F., Nton-Culver H., Capanu M., Liang X., Hummer A.J., Sima C., and Bernstein J.L. Variation of breast cancer risk among BRCA1/2 carriers. JAMA 299 (2008) 194-201
-
(2008)
JAMA
, vol.299
, pp. 194-201
-
-
Begg, C.B.1
Haile, R.W.2
Borg, A.3
Malone, K.E.4
Concannon, P.5
Thomas, D.C.6
Langholz, B.7
Bernstein, L.8
Olsen, J.H.9
Lynch, C.F.10
Nton-Culver, H.11
Capanu, M.12
Liang, X.13
Hummer, A.J.14
Sima, C.15
Bernstein, J.L.16
-
4
-
-
17344365851
-
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium
-
Ford D., Easton D.F., Stratton M., Narod S., Goldgar D., Devilee P., Bishop D.T., Weber B., Lenoir G., Chang-Claude J., Sobol H., Teare M.D., Struewing J., Arason A., Scherneck S., Peto J., Rebbeck T.R., Tonin P., Neuhausen S., Barkardottir R., Eyfjord J., Lynch H., Ponder B.A., Gayther S.A., and Zelada-Hedman M. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 62 (1998) 676-689
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 676-689
-
-
Ford, D.1
Easton, D.F.2
Stratton, M.3
Narod, S.4
Goldgar, D.5
Devilee, P.6
Bishop, D.T.7
Weber, B.8
Lenoir, G.9
Chang-Claude, J.10
Sobol, H.11
Teare, M.D.12
Struewing, J.13
Arason, A.14
Scherneck, S.15
Peto, J.16
Rebbeck, T.R.17
Tonin, P.18
Neuhausen, S.19
Barkardottir, R.20
Eyfjord, J.21
Lynch, H.22
Ponder, B.A.23
Gayther, S.A.24
Zelada-Hedman, M.25
more..
-
5
-
-
33845654907
-
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada
-
Risch H.A., McLaughlin J.R., Cole D.E., Rosen B., Bradley L., Fan I., Tang J., Li S., Zhang S., Shaw P.A., and Narod S.A. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J. Natl. Cancer Inst. 98 (2006) 1694-1706
-
(2006)
J. Natl. Cancer Inst.
, vol.98
, pp. 1694-1706
-
-
Risch, H.A.1
McLaughlin, J.R.2
Cole, D.E.3
Rosen, B.4
Bradley, L.5
Fan, I.6
Tang, J.7
Li, S.8
Zhang, S.9
Shaw, P.A.10
Narod, S.A.11
-
6
-
-
0242380256
-
Cancer, a risky business-assessing breast cancer risk
-
Levy-Lahad E., and Plon S.E. Cancer, a risky business-assessing breast cancer risk. Science 302 (2003) 574-575
-
(2003)
Science
, vol.302
, pp. 574-575
-
-
Levy-Lahad, E.1
Plon, S.E.2
-
7
-
-
15544381256
-
Prevention and management of hereditary breast cancer
-
Narod S.A., and Offit K. Prevention and management of hereditary breast cancer. J. Clin. Oncol. 23 (2005) 1656-1663
-
(2005)
J. Clin. Oncol.
, vol.23
, pp. 1656-1663
-
-
Narod, S.A.1
Offit, K.2
-
8
-
-
4544374528
-
BRCA1 and BRCA2: 1994 and beyond
-
Narod S.A., and Foulkes W.D. BRCA1 and BRCA2: 1994 and beyond. Nat. Rev. Cancer 4 (2004) 665-676
-
(2004)
Nat. Rev. Cancer
, vol.4
, pp. 665-676
-
-
Narod, S.A.1
Foulkes, W.D.2
-
9
-
-
4544336084
-
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
-
Goldgar D.E., Easton D.F., Deffenbaugh A.M., Monteiro A.N., Tavtigian S.V., and Couch F.J. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am. J. Hum. Genet. 75 (2004) 535-544
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 535-544
-
-
Goldgar, D.E.1
Easton, D.F.2
Deffenbaugh, A.M.3
Monteiro, A.N.4
Tavtigian, S.V.5
Couch, F.J.6
-
11
-
-
35348834779
-
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
-
Easton D.F., Deffenbaugh A.M., Pruss D., Frye C., Wenstrup R.J., len-Brady K., Tavtigian S.V., Monteiro A.N., Iversen E.S., Couch F.J., and Goldgar D.E. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am. J. Hum. Genet. 81 (2007) 873-883
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 873-883
-
-
Easton, D.F.1
Deffenbaugh, A.M.2
Pruss, D.3
Frye, C.4
Wenstrup, R.J.5
len-Brady, K.6
Tavtigian, S.V.7
Monteiro, A.N.8
Iversen, E.S.9
Couch, F.J.10
Goldgar, D.E.11
-
13
-
-
37849041997
-
Genetic variants of uncertain significance: flies in the ointment
-
Domchek S., and Weber B.L. Genetic variants of uncertain significance: flies in the ointment. J. Clin. Oncol. 26 (2008) 16-17
-
(2008)
J. Clin. Oncol.
, vol.26
, pp. 16-17
-
-
Domchek, S.1
Weber, B.L.2
-
14
-
-
33847314487
-
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis
-
Carvalho M.A., Marsillac S.M., Karchin R., Manoukian S., Grist S., Swaby R.F., Urmenyi T.P., Rondinelli E., Silva R., Gayol L., Baumbach L., Sutphen R., Pickard-Brzosowicz J.L., Nathanson K.L., Sali A., Goldgar D., Couch F.J., Radice P., and Monteiro A.N.A. Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res. 67 (2007) 1494-1501
-
(2007)
Cancer Res.
, vol.67
, pp. 1494-1501
-
-
Carvalho, M.A.1
Marsillac, S.M.2
Karchin, R.3
Manoukian, S.4
Grist, S.5
Swaby, R.F.6
Urmenyi, T.P.7
Rondinelli, E.8
Silva, R.9
Gayol, L.10
Baumbach, L.11
Sutphen, R.12
Pickard-Brzosowicz, J.L.13
Nathanson, K.L.14
Sali, A.15
Goldgar, D.16
Couch, F.J.17
Radice, P.18
Monteiro, A.N.A.19
-
15
-
-
13444292150
-
Classification of BRCA1 missense variants of unknown clinical significance
-
Phelan C.M., Dapic V., Tice B., Favis R., Kwan E., Barany F., Manoukian S., Radice P., van der Luijt R.B., van Nesselrooij B.P., Chenevix-Trench G., Caldes T., De La H.M., Lindquist S., Tavtigian S.V., Goldgar D., Borg A., Narod S.A., and Monteiro A.N. Classification of BRCA1 missense variants of unknown clinical significance. J. Med. Genet. 42 (2005) 138-146
-
(2005)
J. Med. Genet.
, vol.42
, pp. 138-146
-
-
Phelan, C.M.1
Dapic, V.2
Tice, B.3
Favis, R.4
Kwan, E.5
Barany, F.6
Manoukian, S.7
Radice, P.8
van der Luijt, R.B.9
van Nesselrooij, B.P.10
Chenevix-Trench, G.11
Caldes, T.12
De La, H.M.13
Lindquist, S.14
Tavtigian, S.V.15
Goldgar, D.16
Borg, A.17
Narod, S.A.18
Monteiro, A.N.19
-
16
-
-
0035864827
-
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
-
Vallon-Christersson J., Cayanan C., Haraldsson K., Loman N., Bergthorsson J.T., Brondum-Nielsen K., Gerdes A.M., Moller P., Kristoffersson U., Olsson H., Borg A., and Monteiro A.N. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum. Mol. Genet. 10 (2001) 353-360
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 353-360
-
-
Vallon-Christersson, J.1
Cayanan, C.2
Haraldsson, K.3
Loman, N.4
Bergthorsson, J.T.5
Brondum-Nielsen, K.6
Gerdes, A.M.7
Moller, P.8
Kristoffersson, U.9
Olsson, H.10
Borg, A.11
Monteiro, A.N.12
-
17
-
-
2542543477
-
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition
-
Mirkovic N., Marti-Renom M.A., Weber B.L., Sali A., and Monteiro A.N. Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res. 64 (2004) 3790-3797
-
(2004)
Cancer Res.
, vol.64
, pp. 3790-3797
-
-
Mirkovic, N.1
Marti-Renom, M.A.2
Weber, B.L.3
Sali, A.4
Monteiro, A.N.5
-
18
-
-
33847252874
-
Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning
-
Karchin R., Monteiro A.N., Tavtigian S.V., Carvalho M.A., and Sali A. Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning. PLoS Comput. Biol. 3 (2007) e26
-
(2007)
PLoS Comput. Biol.
, vol.3
-
-
Karchin, R.1
Monteiro, A.N.2
Tavtigian, S.V.3
Carvalho, M.A.4
Sali, A.5
-
19
-
-
0037462647
-
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation
-
Williams R.S., and Glover J.N. Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. J. Biol. Chem. 278 (2003) 2630-2635
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 2630-2635
-
-
Williams, R.S.1
Glover, J.N.2
-
21
-
-
0002337352
-
Two-hybrid system/interaction traps
-
Ausubel F.M., Brent R., Kingston R., Moore D., Seidman J., Smith J.A., and Struhl K. (Eds), John Wiley & Sons, New York pp. 14, 1-13, 14, 17
-
Golemis E.A., Gyuris J., and Brent R. Two-hybrid system/interaction traps. In: Ausubel F.M., Brent R., Kingston R., Moore D., Seidman J., Smith J.A., and Struhl K. (Eds). Current Protocols in Molecular Biology (1994), John Wiley & Sons, New York 13 pp. 14, 1-13, 14, 17
-
(1994)
Current Protocols in Molecular Biology
, pp. 13
-
-
Golemis, E.A.1
Gyuris, J.2
Brent, R.3
-
22
-
-
0029092610
-
Correlation of two-hybrid affinity data with in vitro measurements
-
Estojak J., Brent R., and Golemis E.A. Correlation of two-hybrid affinity data with in vitro measurements. Mol. Cell Biol. 15 (1995) 5820-5829
-
(1995)
Mol. Cell Biol.
, vol.15
, pp. 5820-5829
-
-
Estojak, J.1
Brent, R.2
Golemis, E.A.3
-
23
-
-
0022328481
-
A eukaryotic transcriptional activator bearing the DNA specificity of a prokaryotic repressor
-
Brent R., and Ptashne M. A eukaryotic transcriptional activator bearing the DNA specificity of a prokaryotic repressor. Cell 43 (1985) 729-736
-
(1985)
Cell
, vol.43
, pp. 729-736
-
-
Brent, R.1
Ptashne, M.2
-
24
-
-
0034194328
-
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation
-
Hayes F., Cayanan C., Barilla D., and Monteiro A.N. Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. Cancer Res. 60 (2000) 2411-2418
-
(2000)
Cancer Res.
, vol.60
, pp. 2411-2418
-
-
Hayes, F.1
Cayanan, C.2
Barilla, D.3
Monteiro, A.N.4
-
25
-
-
20844461337
-
LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources
-
Karchin R., Diekhans M., Kelly L., Thomas D.J., Pieper U., Eswar N., Haussler D., and Sali A. LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources. Bioinformatics 21 (2005) 2814-2820
-
(2005)
Bioinformatics
, vol.21
, pp. 2814-2820
-
-
Karchin, R.1
Diekhans, M.2
Kelly, L.3
Thomas, D.J.4
Pieper, U.5
Eswar, N.6
Haussler, D.7
Sali, A.8
-
26
-
-
15944417881
-
Improving functional annotation of non-synonomous SNPs with information theory
-
Karchin R., Kelly L., and Sali A. Improving functional annotation of non-synonomous SNPs with information theory. Pac. Symp. Biocomput. (2005) 397-408
-
(2005)
Pac. Symp. Biocomput.
, pp. 397-408
-
-
Karchin, R.1
Kelly, L.2
Sali, A.3
-
27
-
-
49649087897
-
Classifying variants of undetermined significance in BRCA2 with protein likelihood ratios
-
Karchin R., Agarwal M., Sali A., Couch F., and Beattie M. Classifying variants of undetermined significance in BRCA2 with protein likelihood ratios. Cancer Inform. 6 (2008) 9-12
-
(2008)
Cancer Inform.
, vol.6
, pp. 9-12
-
-
Karchin, R.1
Agarwal, M.2
Sali, A.3
Couch, F.4
Beattie, M.5
-
28
-
-
30344452280
-
SAM-T04: what is new in protein-structure prediction for CASP6
-
Karplus K., Katzman S., Shackleford G., Koeva M., Draper J., Barnes B., Soriano M., and Hughey R. SAM-T04: what is new in protein-structure prediction for CASP6. Proteins 61 Suppl. 7 (2005) 135-142
-
(2005)
Proteins
, vol.61
, Issue.SUPPL. 7
, pp. 135-142
-
-
Karplus, K.1
Katzman, S.2
Shackleford, G.3
Koeva, M.4
Draper, J.5
Barnes, B.6
Soriano, M.7
Hughey, R.8
-
29
-
-
0034306456
-
BRCA1: exploring the links to transcription
-
Monteiro A.N. BRCA1: exploring the links to transcription. Trends Biochem. Sci. 25 (2000) 469-474
-
(2000)
Trends Biochem. Sci.
, vol.25
, pp. 469-474
-
-
Monteiro, A.N.1
-
30
-
-
6344287454
-
Interactions between BRCT repeats and phosphoproteins: tangled up in two
-
Glover J.N., Williams R.S., and Lee M.S. Interactions between BRCT repeats and phosphoproteins: tangled up in two. Trends Biochem. Sci. 29 (2004) 579-585
-
(2004)
Trends Biochem. Sci.
, vol.29
, pp. 579-585
-
-
Glover, J.N.1
Williams, R.S.2
Lee, M.S.3
-
31
-
-
0346101739
-
Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations
-
Williams R.S., Chasman D.I., Hau D.D., Hui B., Lau A.Y., and Glover J.N. Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J. Biol. Chem. 278 (2003) 53007-53016
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 53007-53016
-
-
Williams, R.S.1
Chasman, D.I.2
Hau, D.D.3
Hui, B.4
Lau, A.Y.5
Glover, J.N.6
-
32
-
-
45749087347
-
-
M. Tischkowitz, N. Hamel, M.A. Carvalho, G. Birrane, A. Soni, E.H. van Beers, S.A. Joose, N. Wong, D. Novak, L.A. Quenneville, S. Grist, kConFab, P.M. Nederlof, D.E. Goldgar, S.V. Tavtigian, A.N. Monteiro, J.A. Ladias, W.D. Foulkes, Pathogenicity of a BRCA1 missense variant is determined by the disruption of the phosphopeptide binding pocket - a multi-modal approach, Eur. J. Hum. Genet. 16 (2008) 820-832.
-
M. Tischkowitz, N. Hamel, M.A. Carvalho, G. Birrane, A. Soni, E.H. van Beers, S.A. Joose, N. Wong, D. Novak, L.A. Quenneville, S. Grist, kConFab, P.M. Nederlof, D.E. Goldgar, S.V. Tavtigian, A.N. Monteiro, J.A. Ladias, W.D. Foulkes, Pathogenicity of a BRCA1 missense variant is determined by the disruption of the phosphopeptide binding pocket - a multi-modal approach, Eur. J. Hum. Genet. 16 (2008) 820-832.
-
-
-
-
33
-
-
2542490186
-
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1
-
Williams R.S., Lee M.S., Hau D.D., and Glover J.N. Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. Nat. Struct. Mol. Biol. 11 (2004) 519-525
-
(2004)
Nat. Struct. Mol. Biol.
, vol.11
, pp. 519-525
-
-
Williams, R.S.1
Lee, M.S.2
Hau, D.D.3
Glover, J.N.4
-
34
-
-
23944510641
-
Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex
-
Varma A.K., Brown R.S., Birrane G., and Ladias J.A. Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex. Biochemistry 44 (2005) 10941-10946
-
(2005)
Biochemistry
, vol.44
, pp. 10941-10946
-
-
Varma, A.K.1
Brown, R.S.2
Birrane, G.3
Ladias, J.A.4
-
35
-
-
27544483543
-
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations
-
Judkins T., Hendrickson B.C., Deffenbaugh A.M., Eliason K., Leclair B., Norton M.J., Ward B.E., Pruss D., and Scholl T. Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. Cancer Res. 65 (2005) 10096-10103
-
(2005)
Cancer Res.
, vol.65
, pp. 10096-10103
-
-
Judkins, T.1
Hendrickson, B.C.2
Deffenbaugh, A.M.3
Eliason, K.4
Leclair, B.5
Norton, M.J.6
Ward, B.E.7
Pruss, D.8
Scholl, T.9
-
36
-
-
33644537810
-
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
-
Tavtigian S.V., Deffenbaugh A.M., Yin L., Judkins T., Scholl T., Samollow P.B., de S.D., Zharkikh A., and Thomas A. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J. Med. Genet. 43 (2006) 295-305
-
(2006)
J. Med. Genet.
, vol.43
, pp. 295-305
-
-
Tavtigian, S.V.1
Deffenbaugh, A.M.2
Yin, L.3
Judkins, T.4
Scholl, T.5
Samollow, P.B.6
de, S.D.7
Zharkikh, A.8
Thomas, A.9
-
37
-
-
0028034348
-
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
-
Friedman L.S., Ostermeyer E.A., Szabo C.I., Dowd P., Lynch E.D., Rowell S.E., and King M.C. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat. Genet. 8 (1994) 399-404
-
(1994)
Nat. Genet.
, vol.8
, pp. 399-404
-
-
Friedman, L.S.1
Ostermeyer, E.A.2
Szabo, C.I.3
Dowd, P.4
Lynch, E.D.5
Rowell, S.E.6
King, M.C.7
-
38
-
-
0029125296
-
Inherited breast and ovarian cancer
-
Szabo C.I., and King M.C. Inherited breast and ovarian cancer. Hum. Mol. Genet. 4 Spec No. (1995) 1811-1817
-
(1995)
Hum. Mol. Genet.
, vol.4
, Issue.Spec
, pp. 1811-1817
-
-
Szabo, C.I.1
King, M.C.2
-
39
-
-
40349087210
-
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
-
Lovelock P.K., Spurdle A.B., Mok M.T., Farrugia D.J., Lakhani S.R., Healey S., Arnold S., Buchanan D., Investigators K., Couch F.J., Henderson B.R., Goldgar D.E., Tavtigian S.V., Chenevix-Trench G., and Brown M.A. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?. Breast Cancer Res. 9 (2007) R82
-
(2007)
Breast Cancer Res.
, vol.9
-
-
Lovelock, P.K.1
Spurdle, A.B.2
Mok, M.T.3
Farrugia, D.J.4
Lakhani, S.R.5
Healey, S.6
Arnold, S.7
Buchanan, D.8
Investigators, K.9
Couch, F.J.10
Henderson, B.R.11
Goldgar, D.E.12
Tavtigian, S.V.13
Chenevix-Trench, G.14
Brown, M.A.15
-
40
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng P.C., and Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 11 (2001) 863-874
-
(2001)
Genome Res.
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
41
-
-
0036713510
-
Human non-synonymous SNPs: server and survey
-
Ramensky V., Bork P., and Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30 (2002) 3894-3900
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
42
-
-
23144437332
-
nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms
-
Bao L., Zhou M., and Cui Y. nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms. Nucleic Acids Res. 33 (2005) W480-W482
-
(2005)
Nucleic Acids Res.
, vol.33
-
-
Bao, L.1
Zhou, M.2
Cui, Y.3
-
43
-
-
25144496606
-
PMUT: a web-based tool for the annotation of pathological mutations on proteins
-
Ferrer-Costa C., Gelpi J.L., Zamakola L., Parraga I., l.C.de X., and Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21 (2005) 3176-3178
-
(2005)
Bioinformatics
, vol.21
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpi, J.L.2
Zamakola, L.3
Parraga, I.4
l.C.de, X.5
Orozco, M.6
-
44
-
-
33846067524
-
PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways
-
Mi H., Guo N., Kejariwal A., and Thomas P.D. PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways. Nucleic Acids Res. 35 (2007) D247-D252
-
(2007)
Nucleic Acids Res.
, vol.35
-
-
Mi, H.1
Guo, N.2
Kejariwal, A.3
Thomas, P.D.4
-
45
-
-
0030474170
-
Evidence for a transcriptional activation function of BRCA1 C-terminal region
-
Monteiro A.N., August A., and Hanafusa H. Evidence for a transcriptional activation function of BRCA1 C-terminal region. Proc. Natl. Acad. Sci. U.S.A. 93 (1996) 13595-13599
-
(1996)
Proc. Natl. Acad. Sci. U.S.A.
, vol.93
, pp. 13595-13599
-
-
Monteiro, A.N.1
August, A.2
Hanafusa, H.3
-
46
-
-
0029830051
-
Transcriptional activation by BRCA1
-
Chapman M.S., and Verma I.M. Transcriptional activation by BRCA1. Nature 382 (1996) 678-679
-
(1996)
Nature
, vol.382
, pp. 678-679
-
-
Chapman, M.S.1
Verma, I.M.2
-
47
-
-
0036500691
-
Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure
-
Joo W.S., Jeffrey P.D., Cantor S.B., Finnin M.S., Livingston D.M., and Pavletich N.P. Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure. Genes Dev. 16 (2002) 583-593
-
(2002)
Genes Dev.
, vol.16
, pp. 583-593
-
-
Joo, W.S.1
Jeffrey, P.D.2
Cantor, S.B.3
Finnin, M.S.4
Livingston, D.M.5
Pavletich, N.P.6
-
48
-
-
0034809456
-
Crystal structure of the BRCT repeat region from the breast cancer- associated protein BRCA1
-
Williams R.S., Green R., and Glover J.N. Crystal structure of the BRCT repeat region from the breast cancer- associated protein BRCA1. Nat. Struct. Biol. 8 (2001) 838-842
-
(2001)
Nat. Struct. Biol.
, vol.8
, pp. 838-842
-
-
Williams, R.S.1
Green, R.2
Glover, J.N.3
-
49
-
-
0030850687
-
Common BRCA1 variants and transcriptional activation
-
Monteiro A.N., August A., and Hanafusa H. Common BRCA1 variants and transcriptional activation. Am. J. Hum. Genet. 61 (1997) 761-762
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 761-762
-
-
Monteiro, A.N.1
August, A.2
Hanafusa, H.3
-
50
-
-
0036591552
-
Characterization of common BRCA1 and BRCA2 variants
-
Deffenbaugh A.M., Frank T.S., Hoffman M., Cannon-Albright L., and Neuhausen S.L. Characterization of common BRCA1 and BRCA2 variants. Genet. Test. 6 (2002) 119-121
-
(2002)
Genet. Test.
, vol.6
, pp. 119-121
-
-
Deffenbaugh, A.M.1
Frank, T.S.2
Hoffman, M.3
Cannon-Albright, L.4
Neuhausen, S.L.5
-
51
-
-
0030915448
-
Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing
-
Humphrey J.S., Salim A., Erdos M.R., Collins F.S., Brody L.C., and Klausner R.D. Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing. Proc. Natl. Acad. Sci. U.S.A. 94 (1997) 5820-5825
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 5820-5825
-
-
Humphrey, J.S.1
Salim, A.2
Erdos, M.R.3
Collins, F.S.4
Brody, L.C.5
Klausner, R.D.6
-
52
-
-
34249909258
-
Thermal unfolding of human BRCA1 BRCT-domain variants
-
Nikolopoulos G., Pyrpassopoulos S., Thanassoulas A., Klimentzou P., Zikos C., Vlassi M., Vorgias C.E., Yannoukakos D., and Nounesis G. Thermal unfolding of human BRCA1 BRCT-domain variants. Biochim. Biophys. Acta 1774 (2007) 772-780
-
(2007)
Biochim. Biophys. Acta
, vol.1774
, pp. 772-780
-
-
Nikolopoulos, G.1
Pyrpassopoulos, S.2
Thanassoulas, A.3
Klimentzou, P.4
Zikos, C.5
Vlassi, M.6
Vorgias, C.E.7
Yannoukakos, D.8
Nounesis, G.9
-
53
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
Grantham R. Amino acid difference formula to help explain protein evolution. Science 185 (1974) 862-864
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
54
-
-
4444221565
-
UCSF Chimera - a visualization system for exploratory research and analysis
-
Pettersen E.F., Goddard T.D., Huang C.C., Couch G.S., Greenblatt D.M., Meng E.C., and Ferrin T.E. UCSF Chimera - a visualization system for exploratory research and analysis. J. Comput. Chem. 25 (2004) 1605-1612
-
(2004)
J. Comput. Chem.
, vol.25
, pp. 1605-1612
-
-
Pettersen, E.F.1
Goddard, T.D.2
Huang, C.C.3
Couch, G.S.4
Greenblatt, D.M.5
Meng, E.C.6
Ferrin, T.E.7
-
55
-
-
36749031067
-
Contact prediction using mutual information and neural nets
-
Shackleford G., and Karplus K. Contact prediction using mutual information and neural nets. Proteins 69 Suppl. 8 (2007) 159-164
-
(2007)
Proteins
, vol.69
, Issue.SUPPL. 8
, pp. 159-164
-
-
Shackleford, G.1
Karplus, K.2
-
56
-
-
33644549954
-
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance
-
Chenevix-Trench G., Healey S., Lakhani S., Waring P., Cummings M., Brinkworth R., et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res. 66 (2006) 2019-2027
-
(2006)
Cancer Res.
, vol.66
, pp. 2019-2027
-
-
Chenevix-Trench, G.1
Healey, S.2
Lakhani, S.3
Waring, P.4
Cummings, M.5
Brinkworth, R.6
-
57
-
-
37849010906
-
BRCA1 p. Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy
-
Malacrida S., Agata S., Callegaro M., Casella C., Barana D., Scaini M.C., et al. BRCA1 p. Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy. J. Clin. Oncol. 26 (2008) 26-31
-
(2008)
J. Clin. Oncol.
, vol.26
, pp. 26-31
-
-
Malacrida, S.1
Agata, S.2
Callegaro, M.3
Casella, C.4
Barana, D.5
Scaini, M.C.6
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