-
1
-
-
41349083952
-
Homozygous deletions may be markers of nearby heterozygous mutations: The complex deletion at FRA16D in the HCT116 colon cancer cell line removes exons of WWOX
-
DOI 10.1002/gcc.20548
-
Alsop AE, Taylor K, Zhang J, Gabra H, Paige AJ, Edwards PA. 2008. Homozygous deletions may be markers of nearby heterozygous mutations: The complex deletion at FRA16D in the HCT116 colon cancer cell line removes exons of WWOX. Genes Chromosomes Cancer 47: 437-447. (Pubitemid 351451798)
-
(2008)
Genes Chromosomes and Cancer
, vol.47
, Issue.5
, pp. 437-447
-
-
Alsop, A.E.1
Taylor, K.2
Zhang, J.3
Gabra, H.4
Paige, A.J.W.5
Edwards, P.A.W.6
-
2
-
-
34548441098
-
Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution
-
DOI 10.1101/gr.6522707
-
Bignell GR, Santarius T, Pole JC, Butler AP, Perry J, Pleasance E, Greenman C, Menzies A, Taylor S, Edkins S, et al. 2007. Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution. Genome Res 17: 1296-1303. (Pubitemid 47360904)
-
(2007)
Genome Research
, vol.17
, Issue.9
, pp. 1296-1303
-
-
Bignell, G.R.1
Santarius, T.2
Pole, J.C.M.3
Butler, A.P.4
Perry, J.5
Pleasance, E.6
Greenman, C.7
Menzies, A.8
Taylor, S.9
Edkins, S.10
Campbell, P.11
Quail, M.12
Plumb, B.13
Matthews, L.14
McLay, K.15
Edwards, P.A.W.16
Rogers, J.17
Wooster, R.18
Futreal, P.A.19
Stratton, M.R.20
more..
-
3
-
-
77249123407
-
Signatures of mutation and selection in the cancer genome
-
Bignell GR, Greenman CD, Davies H, Butler AP, Edkins S, Andrews JM, Buck G, Chen L, Beare D, Latimer C, et al. 2010. Signatures of mutation and selection in the cancer genome. Nature 463: 893-898.
-
(2010)
Nature
, vol.463
, pp. 893-898
-
-
Bignell, G.R.1
Greenman, C.D.2
Davies, H.3
Butler, A.P.4
Edkins, S.5
Andrews, J.M.6
Buck, G.7
Chen, L.8
Beare, D.9
Latimer, C.10
-
4
-
-
44349191457
-
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
-
DOI 10.1038/ng.128, PII NG128
-
Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, Santarius T, Stebbings LA, Leroy C, Edkins S, Hardy C, et al. 2008. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 40: 722-729. (Pubitemid 351748860)
-
(2008)
Nature Genetics
, vol.40
, Issue.6
, pp. 722-729
-
-
Campbell, P.J.1
Stephens, P.J.2
Pleasance, E.D.3
O'Meara, S.4
Li, H.5
Santarius, T.6
Stebbings, L.A.7
Leroy, C.8
Edkins, S.9
Hardy, C.10
Teague, J.W.11
Menzies, A.12
Goodhead, I.13
Turner, D.J.14
Clee, C.M.15
Quail, M.A.16
Cox, A.17
Brown, C.18
Durbin, R.19
Hurles, M.E.20
Edwards, P.A.W.21
Bignell, G.R.22
Stratton, M.R.23
Futreal, P.A.24
more..
-
5
-
-
27544490144
-
Reciprocal translocations: A trap for cytogenetists?
-
Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Lagana C, Tenconi R, et al. 2005. Reciprocal translocations: A trap for cytogenetists? Hum Genet 117: 571-582.
-
(2005)
Hum Genet
, vol.117
, pp. 571-582
-
-
Ciccone, R.1
Giorda, R.2
Gregato, G.3
Guerrini, R.4
Giglio, S.5
Carrozzo, R.6
Bonaglia, M.C.7
Priolo, E.8
Lagana, C.9
Tenconi, R.10
-
6
-
-
0037335978
-
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation
-
Cox JJ, Holden ST, Dee S, Burbridge JI, Raymond FL. 2003. Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation. J Med Genet 40: 169-174. (Pubitemid 36315387)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.3
, pp. 169-174
-
-
Cox, J.J.1
Holden, S.T.2
Dee, S.3
Burbridge, J.I.4
Raymond, F.L.5
-
7
-
-
37249022297
-
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients
-
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, et al. 2007. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients. J Med Genet 44: 750-762.
-
(2007)
J Med Genet
, vol.44
, pp. 750-762
-
-
De Gregori, M.1
Ciccone, R.2
Magini, P.3
Pramparo, T.4
Gimelli, S.5
Messa, J.6
Novara, F.7
Vetro, A.8
Rossi, E.9
Maraschio, P.10
-
8
-
-
72449141457
-
DNA replication: Prime-time looping
-
Dixon NE. 2009. DNA replication: Prime-time looping. Nature 462: 854-855.
-
(2009)
Nature
, vol.462
, pp. 854-855
-
-
Dixon, N.E.1
-
9
-
-
0041328509
-
Array painting: A method for the rapid analysis of aberrant chromosomes using DNA microarrays
-
Fiegler H, Gribble SM, Burford DC, Carr P, Prigmore E, Porter KM, Clegg S, Crolla JA, Dennis NR, Jacobs P, et al. 2003. Array painting: Amethod for the rapid analysis of aberrant chromosomes using DNA microarrays. J Med Genet 40: 664-670. (Pubitemid 37100698)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.9
, pp. 664-670
-
-
Fiegler, H.1
Gribble, S.M.2
Burford, D.C.3
Carr, P.4
Prigmore, E.5
Porter, K.M.6
Clegg, S.7
Crolla, J.A.8
Dennis, N.R.9
Jacobs, P.10
Carter, N.P.11
-
10
-
-
33750565406
-
Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations
-
DOI 10.1007/s00439-006-0222-1
-
Gajecka M, Pavlicek A, Glotzbach CD, Ballif BC, Jarmuz M, Jurka J, Shaffer LG. 2006. Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations. Hum Genet 120: 519-526. (Pubitemid 44669785)
-
(2006)
Human Genetics
, vol.120
, Issue.4
, pp. 519-526
-
-
Gajecka, M.1
Pavlicek, A.2
Glotzbach, C.D.3
Ballif, B.C.4
Jarmuz, M.5
Jurka, J.6
Shaffer, L.G.7
-
11
-
-
55549126844
-
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)
-
Gajecka M, Gentles AJ, Tsai A, Chitayat D, Mackay KL, Glotzbach CD, Lieber MR, Shaffer LG. 2008. Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13). Genome Res 18: 1733-1742.
-
(2008)
Genome Res
, vol.18
, pp. 1733-1742
-
-
Gajecka, M.1
Gentles, A.J.2
Tsai, A.3
Chitayat, D.4
Mackay, K.L.5
Glotzbach, C.D.6
Lieber, M.R.7
Shaffer, L.G.8
-
12
-
-
0031739560
-
Characterization of paired tumor and non-tumor cell lines established from patients with breast cancer
-
DOI 10.1002/(SICI)1097-0215(19981209)78:6<766::AID-IJC15>3.0.CO;2-L
-
Gazdar AF, Kurvari V, Virmani A, Gollahon L, Sakaguchi M, Westerfield M, Kodagoda D, Stasny V, Cunningham HT, Wistuba II, et al. 1998. Characterization of paired tumor and non-tumor cell lines established from patients with breast cancer. Int J Cancer 78: 766-774. (Pubitemid 28530401)
-
(1998)
International Journal of Cancer
, vol.78
, Issue.6
, pp. 766-774
-
-
Gazdar, A.F.1
Kurvari, V.2
Virmani, A.3
Gollahon, L.4
Sakaguchi, M.5
Westerfield, M.6
Kodagoda, D.7
Stasny, V.8
Cunningham, H.T.9
Wistuba, I.I.10
Tomlinson, G.11
Tonk, V.12
Ashfaq, R.13
Marilyn, L.A.14
Minna, J.D.15
Shay, J.W.16
-
13
-
-
19944432367
-
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
-
DOI 10.1136/jmg.2004.024141
-
Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, et al. 2005. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 42: 8-16. (Pubitemid 40187115)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.1
, pp. 8-16
-
-
Gribble, S.M.1
Prigmore, E.2
Burford, D.C.3
Porter, K.M.4
Ng, B.L.5
Douglas, E.J.6
Fiegler, H.7
Carr, P.8
Kalaitzopoulos, D.9
Clegg, S.10
Sandstrom, R.11
Temple, I.K.12
Youings, S.A.13
Thomas, N.S.14
Dennis, N.R.15
Jacobs, P.A.16
Crolla, J.A.17
Carter, N.P.18
-
14
-
-
59249105978
-
A microhomology-mediated break-induced replication model for the origin of human copy number variation
-
doi: 10.1371/journal.pgen.1000327
-
Hastings PJ, Ira G, Lupski JR. 2009a. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5: e1000327. doi: 10.1371/journal.pgen.1000327.
-
(2009)
PLoS Genet
, vol.5
-
-
Hastings, P.J.1
Ira, G.2
Lupski, J.R.3
-
16
-
-
0034640810
-
The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific alu-mediated recombination
-
Hill AS, Foot NJ, Chaplin TL, Young BD. 2000. The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific alu-mediated recombination. Hum Mol Genet 9: 1525-1532.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1525-1532
-
-
Hill, A.S.1
Foot, N.J.2
Chaplin, T.L.3
Young, B.D.4
-
17
-
-
44349125900
-
Array painting reveals a high frequency of balanced translocations in breast cancer cell lines that break in cancer-relevant genes
-
DOI 10.1038/sj.onc.1210993, PII 1210993
-
Howarth KD, Blood KA, Ng BL, Beavis JC, Chua Y, Cooke SL, Raby S, Ichimura K, Collins VP, Carter NP, et al. 2008. Array painting reveals a high frequency of balanced translocations in breast cancer cell lines that break in cancer-relevant genes. Oncogene 27: 3345-3359. (Pubitemid 351733393)
-
(2008)
Oncogene
, vol.27
, Issue.23
, pp. 3345-3359
-
-
Howarth, K.D.1
Blood, K.A.2
Ng, B.L.3
Beavis, J.C.4
Chua, Y.5
Cooke, S.L.6
Raby, S.7
Ichimura, K.8
Collins, V.P.9
Carter, N.P.10
Edwards, P.A.W.11
-
18
-
-
0031898431
-
The BCR gene recombines preferentially with Alu elements in complex BCR-ABL translocations of chronic myeloid leukaemia
-
DOI 10.1093/hmg/7.5.767
-
Jeffs AR, Benjes SM, Smith TL, Sowerby SJ, Morris CM. 1998. The BCR gene recombines preferentially with Alu elements in complex BCR-ABL translocations of chronic myeloid leukaemia. Hum Mol Genet 7: 767-776. (Pubitemid 28221238)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.5
, pp. 767-776
-
-
Jeffs, A.R.1
Benjes, S.M.2
Smith, T.L.3
Sowerby, S.J.4
Morris, C.M.5
-
19
-
-
55349107544
-
Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas
-
Jones DT, Kocialkowski S, Liu L, Pearson DM, Backlund LM, Ichimura K, Collins VP. 2008. Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res 68: 8673-8677.
-
(2008)
Cancer Res
, vol.68
, pp. 8673-8677
-
-
Jones, D.T.1
Kocialkowski, S.2
Liu, L.3
Pearson, D.M.4
Backlund, L.M.5
Ichimura, K.6
Collins, V.P.7
-
20
-
-
0036079158
-
The human genome browser at UCSC
-
DOI 10.1101/gr.229102. Article published online before print in May 2002
-
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. 2002. The human genome browser at UCSC. Genome Res 12: 996-1006. (Pubitemid 34662293)
-
(2002)
Genome Research
, vol.12
, Issue.6
, pp. 996-1006
-
-
James, K.W.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
21
-
-
0842285397
-
Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments
-
Koszul R, Caburet S, Dujon B, Fischer G. 2004. Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments. EMBO 23: 234-243.
-
(2004)
EMBO
, vol.23
, pp. 234-243
-
-
Koszul, R.1
Caburet, S.2
Dujon, B.3
Fischer, G.4
-
22
-
-
0018416991
-
Morphological and biochemical properties of a new human breast cancer cell line
-
Langlois AJ, Holder WD Jr, Iglehart JD, Nelson-Rees WA, Wells SA Jr, Bolognesi DP. 1979. Morphological and biochemical properties of a new human breast cancer cell line. Cancer Res 39: 2604-2613. (Pubitemid 9204200)
-
(1979)
Cancer Research
, vol.39
, Issue.7 I
, pp. 2604-2613
-
-
Langlois, A.J.1
Holder Jr., W.D.2
Iglehart, J.D.3
-
23
-
-
37349109667
-
A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders
-
DOI 10.1016/j.cell.2007.11.037, PII S0092867407015413
-
Lee JA, Carvalho CM, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131: 1235-1247. (Pubitemid 350297419)
-
(2007)
Cell
, vol.131
, Issue.7
, pp. 1235-1247
-
-
Lee, J.A.1
Carvalho, C.M.B.2
Lupski, J.R.3
-
24
-
-
0027497958
-
Duplication of small segments within the major breakpoint cluster region in chronic myelogenous leukemia
-
Litz CE, McClure JS, Copenhaver CM, Brunning RD. 1993. Duplication of small segments within the major breakpoint cluster region in chronic myelogenous leukemia. Blood 81: 1567-1572. (Pubitemid 23083836)
-
(1993)
Blood
, vol.81
, Issue.6
, pp. 1567-1572
-
-
Litz, C.E.1
McClure, J.S.2
Copenhaver, C.M.3
Brunning, R.D.4
-
25
-
-
2442612997
-
T(11;18)(q21;q21) of mucosa-associated lymphoid tissue lymphoma results from illegitimate non-homologous end joining following double strand breaks
-
DOI 10.1111/j.1365-2141.2004.04909.x
-
Liu H, Hamoudi RA, Ye H, Ruskone-Fourmestraux A, Dogan A, Isaacson PG, Du MQ. 2004. t(11;18)(q21;q21) of mucosa-associated lymphoid tissue lymphoma results from illegitimate non-homologous end joining following double strand breaks. Br J Haematol 125: 318-329. (Pubitemid 38621762)
-
(2004)
British Journal of Haematology
, vol.125
, Issue.3
, pp. 318-329
-
-
Liu, H.1
Hamoudi, R.A.2
Ye, H.3
Ruskone-Fourmestraux, A.4
Dogan, A.5
Isaacson, P.G.6
Du, M.-Q.7
-
26
-
-
34547637896
-
High-throughput mapping of origins of replication in human cells
-
DOI 10.1038/sj.embor.7401026, PII 7401026
-
Lucas I, Palakodeti A, Jiang Y, Young DJ, Jiang N, Fernald AA, Le Beau MM. 2007. High-throughput mapping of origins of replication in human cells. EMBO Rep 8: 770-777. (Pubitemid 47202457)
-
(2007)
EMBO Reports
, vol.8
, Issue.8
, pp. 770-777
-
-
Lucas, I.1
Palakodeti, A.2
Jiang, Y.3
Young, D.J.4
Jiang, N.5
Fernald, A.A.6
Le, B.M.M.7
-
28
-
-
0026453520
-
Rearrangement of the human tre oncogene by homologous recombination between Alu repeats of nucleotide sequences from two different chromosomes
-
Onno M, Nakamura T, Hillova J, Hill M. 1992. Rearrangement of the human tre oncogene by homologous recombination between Alu repeats of nucleotide sequences from two different chromosomes. Oncogene 7: 2519-2523.
-
(1992)
Oncogene
, vol.7
, pp. 2519-2523
-
-
Onno, M.1
Nakamura, T.2
Hillova, J.3
Hill, M.4
-
29
-
-
33748669269
-
High-resolution analysis of chromosome rearrangements on 8p in breast, colon and pancreatic cancer reveals a complex pattern of loss, gain and translocation
-
DOI 10.1038/sj.onc.1209570, PII 1209570
-
Pole JC, Courtay-Cahen C, Garcia MJ, Blood KA, Cooke SL, Alsop AE, Tse DM, Caldas C, Edwards PA. 2006. High-resolution analysis of chromosome rearrangements on 8p in breast, colon and pancreatic cancer reveals a complex pattern of loss, gain and translocation. Oncogene 25: 5693-5706. (Pubitemid 44387624)
-
(2006)
Oncogene
, vol.25
, Issue.41
, pp. 5693-5706
-
-
Pole, J.C.M.1
Courtay-Cahen, C.2
Garcia, M.J.3
Blood, K.A.4
Cooke, S.L.5
Alsop, A.E.6
Tse, D.M.L.7
Caldas, C.8
Edwards, P.A.W.9
-
30
-
-
0028967353
-
One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi
-
Rudiger NS, Gregersen N, Kielland-Brandt MC. 1995. One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23: 256-260.
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 256-260
-
-
Rudiger, N.S.1
Gregersen, N.2
Kielland-Brandt, M.C.3
-
31
-
-
0027051420
-
Consistent disruption of the AML1 gene occurs within a single intron in the t(8;21) chromosomal translocation
-
Shimizu K, Miyoshi H, Kozu T, Nagata J, Enomoto K, Maseki N, Kaneko Y, Ohki M. 1992. Consistent disruption of the AML1 gene occurs within a single intron in the t(8;21) chromosomal translocation. Cancer Res 52: 6945-6948. (Pubitemid 23006304)
-
(1992)
Cancer Research
, vol.52
, Issue.24
, pp. 6945-6948
-
-
Shimizu, K.1
Miyoshi, H.2
Kozu, T.3
Nagata, J.4
Enomoto, K.5
Maseki, N.6
Kaneko, Y.7
Ohki, M.8
-
32
-
-
12944295358
-
Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia
-
Sinclair PB, Nacheva EP, Leversha M, Telford N, Chang J, Reid A, Bench A, Champion K, Huntly B, Green AR. 2000. Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia. Blood 95: 738-743.
-
(2000)
Blood
, vol.95
, pp. 738-743
-
-
Sinclair, P.B.1
Nacheva, E.P.2
Leversha, M.3
Telford, N.4
Chang, J.5
Reid, A.6
Bench, A.7
Champion, K.8
Huntly, B.9
Green, A.R.10
-
33
-
-
0034924052
-
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
-
DOI 10.1101/gr.181101
-
Stankiewicz P, Park SS, Inoue K, Lupski JR. 2001. The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res 11: 1205-1210. (Pubitemid 32677294)
-
(2001)
Genome Research
, vol.11
, Issue.7
, pp. 1205-1210
-
-
Stankiewicz, P.1
Park, S.-S.2
Inoue, K.3
Lupski, J.R.4
-
34
-
-
72949119310
-
Complex landscapes of somatic rearrangement in human breast cancer genomes
-
Stephens PJ, McBride DJ, Lin ML, Varela I, Pleasance ED, Simpson JT, Stebbings LA, Leroy C, Edkins S, Mudie LJ, et al. 2009. Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 462: 1005-1010.
-
(2009)
Nature
, vol.462
, pp. 1005-1010
-
-
Stephens, P.J.1
McBride, D.J.2
Lin, M.L.3
Varela, I.4
Pleasance, E.D.5
Simpson, J.T.6
Stebbings, L.A.7
Leroy, C.8
Edkins, S.9
Mudie, L.J.10
-
35
-
-
70350776635
-
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
-
Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, et al. 2009. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet 18: 3579-3593.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3579-3593
-
-
Vissers, L.E.1
Bhatt, S.S.2
Janssen, I.M.3
Xia, Z.4
Lalani, S.R.5
Pfundt, R.6
Derwinska, K.7
De Vries, B.B.8
Gilissen, C.9
Hoischen, A.10
|