-
1
-
-
33746795547
-
Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast andbreast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations
-
Agata S, Viel A, Della Puppa L, Cortesi L, Fersini G, Callegaro M, Dalla Palma M, Dolcetti R, Federico M, Venuta S, and others. 2006. Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast andbreast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations. Genes Chromosomes Cancer 45:791-797.
-
(2006)
Genes Chromosomes Cancer
, vol.45
, pp. 791-797
-
-
Agata, S.1
Viel, A.2
Della Puppa, L.3
Cortesi, L.4
Fersini, G.5
Callegaro, M.6
Dalla Palma, M.7
Dolcetti, R.8
Federico, M.9
Venuta, S.10
-
3
-
-
33846317838
-
Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients
-
Armaou S, Konstantopoulou I, Anagnostopoulos T, Razis E, Boukovinas I, Xenidis N, Fountzilas G, Yannoukakos D. 2007. Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients. Eur J Cancer 43:443-453.
-
(2007)
Eur J Cancer
, vol.43
, pp. 443-453
-
-
Armaou, S.1
Konstantopoulou, I.2
Anagnostopoulos, T.3
Razis, E.4
Boukovinas, I.5
Xenidis, N.6
Fountzilas, G.7
Yannoukakos, D.8
-
4
-
-
1242318567
-
Real-time PCR-based genedosage assay for detecting BRCA1rearrangements in breast-ovarian cancer families
-
Barrois M, Bieche I, Mazoyer S, Champeme MH, Bressac-de Paillerets B, Lidereau R. 2004. Real-time PCR-based genedosage assay for detecting BRCA1rearrangements in breast-ovarian cancer families. Clin Genet 65:131-136.
-
(2004)
Clin Genet
, vol.65
, pp. 131-136
-
-
Barrois, M.1
Bieche, I.2
Mazoyer, S.3
Champeme, M.H.4
Bressac-de Paillerets, B.5
Lidereau, R.6
-
5
-
-
23744470383
-
Human ribosomal RNA gene arrays display a broad range of palindromic structures
-
Caburet S, Conti C, Schurra C, Lebofsky R, Edelstein SJ, Bensimon A. 2005. Human ribosomal RNA gene arrays display a broad range of palindromic structures. Genome Res 15:1079-1085.
-
(2005)
Genome Res
, vol.15
, pp. 1079-1085
-
-
Caburet, S.1
Conti, C.2
Schurra, C.3
Lebofsky, R.4
Edelstein, S.J.5
Bensimon, A.6
-
6
-
-
84862173376
-
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMDBRCA1/BRCA2 databases
-
French BRCA GGC Consortium
-
Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R; French BRCA GGC Consortium. 2012. Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMDBRCA1/BRCA2 databases. Nucleic Acids Res 40:D992-1002.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Caputo, S.1
Benboudjema, L.2
Sinilnikova, O.3
Rouleau, E.4
Béroud, C.5
Lidereau, R.6
-
7
-
-
0036024851
-
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
-
Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M. 2002. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 20:218-226.
-
(2002)
Hum Mutat
, vol.20
, pp. 218-226
-
-
Casilli, F.1
Di Rocco, Z.C.2
Gad, S.3
Tournier, I.4
Stoppa-Lyonnet, D.5
Frebourg, T.6
Tosi, M.7
-
8
-
-
79951785351
-
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients
-
Caux-Moncoutier V, Castera L, Tirapo C, Michaux D, Remon MA, Lauge A, Rouleau E, De Pauw A, Buecher B, Gauthier-Villars M and others. 2011. EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. Hum Mutat 32:325-334.
-
(2011)
Hum Mutat
, vol.32
, pp. 325-334
-
-
Caux-Moncoutier, V.1
Castera, L.2
Tirapo, C.3
Michaux, D.4
Remon, M.A.5
Lauge, A.6
Rouleau, E.7
De Pauw, A.8
Buecher, B.9
Gauthier-Villars, M.10
-
9
-
-
37849014876
-
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20
-
Cavalieri S, Funaro A, Pappi P, Migone N, Gatti RA, Brusco A. 2008. Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. Ann Hum Genet 72:10-18.
-
(2008)
Ann Hum Genet
, vol.72
, pp. 10-18
-
-
Cavalieri, S.1
Funaro, A.2
Pappi, P.3
Migone, N.4
Gatti, R.A.5
Brusco, A.6
-
10
-
-
0034213622
-
Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments
-
Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T. 2000. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 60:2760-2763.
-
(2000)
Cancer Res
, vol.60
, pp. 2760-2763
-
-
Charbonnier, F.1
Raux, G.2
Wang, Q.3
Drouot, N.4
Cordier, F.5
Limacher, J.M.6
Saurin, J.C.7
Puisieux, A.8
Olschwang, S.9
Frebourg, T.10
-
11
-
-
67349100169
-
High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations
-
de Juan I, Esteban E, Palanca S, Barragan E, Bolufer P. 2009. High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations. Breast Cancer Res Treat 115:405-414.
-
(2009)
Breast Cancer Res Treat
, vol.115
, pp. 405-414
-
-
de Juan, I.1
Esteban, E.2
Palanca, S.3
Barragan, E.4
Bolufer, P.5
-
12
-
-
79951805438
-
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
-
De Leeneer K, Hellemans J, De Schrijver J, Baetens M, Poppe B, Van Criekinge W, De Paepe A, Coucke P, Claes K. 2011. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat 32:335-344.
-
(2011)
Hum Mutat
, vol.32
, pp. 335-344
-
-
De Leeneer, K.1
Hellemans, J.2
De Schrijver, J.3
Baetens, M.4
Poppe, B.5
Van Criekinge, W.6
De Paepe, A.7
Coucke, P.8
Claes, K.9
-
13
-
-
46749157576
-
MLPAscreening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases
-
Engert S, Wappenschmidt B, Betz B, Kast K, Kutsche M, Hellebrand H, Goecke TO, Kiechle M, Niederacher D, Schmutzler RKand others. 2008. MLPAscreening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases. Hum Mutat 29:948-958.
-
(2008)
Hum Mutat
, vol.29
, pp. 948-958
-
-
Engert, S.1
Wappenschmidt, B.2
Betz, B.3
Kast, K.4
Kutsche, M.5
Hellebrand, H.6
Goecke, T.O.7
Kiechle, M.8
Niederacher, D.9
Schmutzler, R.K.10
-
14
-
-
33645745489
-
Genetic and preventive services for hereditary breast and ovarian cancer in the czech republic
-
Foretova L, Petrakova K, Palacova M, Kalabova R, Navratilova M, Lukesova M, Vasickova P, Machackova E, Kleibl Z, Pohlreich P. 2006. Genetic and preventive services for hereditary breast and ovarian cancer in the czech republic. Hered Cancer Clin Pract 4:3-6.
-
(2006)
Hered Cancer Clin Pract
, vol.4
, pp. 3-6
-
-
Foretova, L.1
Petrakova, K.2
Palacova, M.3
Kalabova, R.4
Navratilova, M.5
Lukesova, M.6
Vasickova, P.7
Machackova, E.8
Kleibl, Z.9
Pohlreich, P.10
-
15
-
-
0036836571
-
DNA arraybased method for detection of large rearrangements in the BRCA1 gene
-
Frolov A, Prowse AH, Vanderveer L, Bove B, Wu H, Godwin AK. 2002. DNA arraybased method for detection of large rearrangements in the BRCA1 gene. Genes Chromosomes Cancer 35:232-241.
-
(2002)
Genes Chromosomes Cancer
, vol.35
, pp. 232-241
-
-
Frolov, A.1
Prowse, A.H.2
Vanderveer, L.3
Bove, B.4
Wu, H.5
Godwin, A.K.6
-
16
-
-
0035057199
-
Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements
-
Gad S, Aurias A, Puget N, Mairal A, Schurra C, Montagna M, Pages S, Caux V, Mazoyer S, Bensimon A and others. 2001. Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements. Genes Chromosomes Cancer 31:75-84.
-
(2001)
Genes Chromosomes Cancer
, vol.31
, pp. 75-84
-
-
Gad, S.1
Aurias, A.2
Puget, N.3
Mairal, A.4
Schurra, C.5
Montagna, M.6
Pages, S.7
Caux, V.8
Mazoyer, S.9
Bensimon, A.10
-
17
-
-
1242347925
-
Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breastovarian cancer family
-
Gad S, Bieche I, Barrois M, Casilli F, Pages-Berhouet S, Dehainault C, Gauthier-Villars M, Bensimon A, Aurias A, Lidereau R and others. 2003. Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breastovarian cancer family. Hum Mutat 21:654.
-
(2003)
Hum Mutat
, vol.21
, pp. 654
-
-
Gad, S.1
Bieche, I.2
Barrois, M.3
Casilli, F.4
Pages-Berhouet, S.5
Dehainault, C.6
Gauthier-Villars, M.7
Bensimon, A.8
Aurias, A.9
Lidereau, R.10
-
18
-
-
18644382608
-
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
-
Gad S, Caux-Moncoutier V, Pages-Berhouet S, Gauthier-Villars M, Coupier I, Pujol P, Frenay M, Gilbert B, Maugard C, Bignon YJ, and others. 2002a. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 21:6841-6847.
-
(2002)
Oncogene
, vol.21
, pp. 6841-6847
-
-
Gad, S.1
Caux-Moncoutier, V.2
Pages-Berhouet, S.3
Gauthier-Villars, M.4
Coupier, I.5
Pujol, P.6
Frenay, M.7
Gilbert, B.8
Maugard, C.9
Bignon, Y.J.10
-
19
-
-
0036850003
-
Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families
-
Gad S, Klinger M, Caux-Moncoutier V, Pages-Berhouet S, Gauthier-Villars M, Coupier I, Bensimon A, Aurias A, Stoppa-Lyonnet D. 2002b. Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families. J Med Genet 39:817-821.
-
(2002)
J Med Genet
, vol.39
, pp. 817-821
-
-
Gad, S.1
Klinger, M.2
Caux-Moncoutier, V.3
Pages-Berhouet, S.4
Gauthier-Villars, M.5
Coupier, I.6
Bensimon, A.7
Aurias, A.8
Stoppa-Lyonnet, D.9
-
20
-
-
78449242326
-
Common genetic variants andmodification of penetrance of BRCA2-associated breast cancer
-
Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segre AV, McGee K, McGuffog L, Kartsonaki C and others. 2010. Common genetic variants andmodification of penetrance of BRCA2-associated breast cancer. PLo S Genet 6:e1001183.
-
(2010)
PLo S Genet
, vol.6
-
-
Gaudet, M.M.1
Kirchhoff, T.2
Green, T.3
Vijai, J.4
Korn, J.M.5
Guiducci, C.6
Segre, A.V.7
McGee, K.8
McGuffog, L.9
Kartsonaki, C.10
-
21
-
-
67349101217
-
Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families
-
Hansen TO, Jonson L, Albrechtsen A, Andersen MK, Ejlertsen B, Nielsen FC. 2009. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families. Breast Cancer Res Treat 115:315-323.
-
(2009)
Breast Cancer Res Treat
, vol.115
, pp. 315-323
-
-
Hansen, T.O.1
Jonson, L.2
Albrechtsen, A.3
Andersen, M.K.4
Ejlertsen, B.5
Nielsen, F.C.6
-
23
-
-
68349132122
-
Introduction to molecular combing: genomics, DNA replication, and cancer
-
Herrick J, Bensimon A. 2009. Introduction to molecular combing: genomics, DNA replication, and cancer. Methods Mol Biol 521:71-101.
-
(2009)
Methods Mol Biol
, vol.521
, pp. 71-101
-
-
Herrick, J.1
Bensimon, A.2
-
24
-
-
0036636490
-
Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families
-
Hofmann W, Wappenschmidt B, Berhane S, Schmutzler R, Scherneck S. 2002. Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families. J Med Genet 39:E36.
-
(2002)
J Med Genet
, vol.39
-
-
Hofmann, W.1
Wappenschmidt, B.2
Berhane, S.3
Schmutzler, R.4
Scherneck, S.5
-
25
-
-
79952232216
-
Global cancer statistics
-
Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D. 2011. Global cancer statistics. CA Cancer J Clin 61:69-90.
-
(2011)
CA Cancer J Clin
, vol.61
, pp. 69-90
-
-
Jemal, A.1
Bray, F.2
Center, M.M.3
Ferlay, J.4
Ward, E.5
Forman, D.6
-
26
-
-
0142178215
-
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
-
King MC, Marks JH, Mandell JB. 2003. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643-646.
-
(2003)
Science
, vol.302
, pp. 643-646
-
-
King, M.C.1
Marks, J.H.2
Mandell, J.B.3
-
27
-
-
33845405316
-
DNAreplication origin interference increases the spacing between initiation events in human cells
-
Lebofsky R, Heilig R, Sonnleitner M, Weissenbach J, Bensimon A. 2006. DNAreplication origin interference increases the spacing between initiation events in human cells. Mol Biol Cell 17:5337-5345.
-
(2006)
Mol Biol Cell
, vol.17
, pp. 5337-5345
-
-
Lebofsky, R.1
Heilig, R.2
Sonnleitner, M.3
Weissenbach, J.4
Bensimon, A.5
-
28
-
-
34247563394
-
Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer
-
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.
-
(2007)
Clin Genet
, vol.71
, pp. 331-342
-
-
Lim, Y.K.1
Lau, P.T.2
Ali, A.B.3
Lee, S.C.4
Wong, J.E.5
Putti, T.C.6
Sng, J.H.7
-
29
-
-
18744401644
-
Genomic rearrangements in the BRCA1 and BRCA2 genes
-
Mazoyer S. 2005. Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25:415-422.
-
(2005)
Hum Mutat
, vol.25
, pp. 415-422
-
-
Mazoyer, S.1
-
30
-
-
0038364017
-
Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
-
Montagna M, Dalla Palma M, Menin C, Agata S, De Nicolo A, Chieco-Bianchi L, D'Andrea E. 2003. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12:1055-1061.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1055-1061
-
-
Montagna, M.1
Dalla Palma, M.2
Menin, C.3
Agata, S.4
De Nicolo, A.5
Chieco-Bianchi, L.6
D'Andrea, E.7
-
31
-
-
0035030368
-
Breast cancer genetics: what we know and what we need
-
Nathanson KL, Wooster R, Weber BL. 2001. Breast cancer genetics: what we know and what we need. Nat Med 7:552-556.
-
(2001)
Nat Med
, vol.7
, pp. 552-556
-
-
Nathanson, K.L.1
Wooster, R.2
Weber, B.L.3
-
32
-
-
84855370315
-
Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy
-
Nguyen K, Walrafen P, Bernard R, Attarian S, Chaix C, Vovan C, Renard E, Dufrane N, Pouget J, Vannier A and others. 2011. Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy. Ann Neurol 70:627-633.
-
(2011)
Ann Neurol
, vol.70
, pp. 627-633
-
-
Nguyen, K.1
Walrafen, P.2
Bernard, R.3
Attarian, S.4
Chaix, C.5
Vovan, C.6
Renard, E.7
Dufrane, N.8
Pouget, J.9
Vannier, A.10
-
33
-
-
0033865651
-
Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer
-
Payne SR, Newman B, King MC. 2000. Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer. Genes Chromosomes Cancer 29:58-62.
-
(2000)
Genes Chromosomes Cancer
, vol.29
, pp. 58-62
-
-
Payne, S.R.1
Newman, B.2
King, M.C.3
-
34
-
-
80052612571
-
Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population
-
Pertesi M, Konstantopoulou I, Yannoukakos D. 2011. Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population. Clin Genet 80:375-382.
-
(2011)
Clin Genet
, vol.80
, pp. 375-382
-
-
Pertesi, M.1
Konstantopoulou, I.2
Yannoukakos, D.3
-
35
-
-
16944363592
-
BRCA1genomic deletions are major founder mutations in Dutch breast cancer patients
-
Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJand others. 1997. BRCA1genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345.
-
(1997)
Nat Genet
, vol.17
, pp. 341-345
-
-
Petrij-Bosch, A.1
Peelen, T.2
van Vliet, M.3
van Eijk, R.4
Olmer, R.5
Drusedau, M.6
Hogervorst, F.B.7
Hageman, S.8
Arts, P.J.9
Ligtenberg, M.J.10
-
36
-
-
33744906322
-
Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin
-
Preisler-Adams S, Schonbuchner I, Fiebig B, Welling B, Dworniczak B, Weber BH. 2006. Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Cancer Genet Cytogenet 168:44-49.
-
(2006)
Cancer Genet Cytogenet
, vol.168
, pp. 44-49
-
-
Preisler-Adams, S.1
Schonbuchner, I.2
Fiebig, B.3
Welling, B.4
Dworniczak, B.5
Weber, B.H.6
-
37
-
-
0036206745
-
Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot
-
Puget N, Gad S, Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S. 2002. Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 70:858-865.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 858-865
-
-
Puget, N.1
Gad, S.2
Perrin-Vidoz, L.3
Sinilnikova, O.M.4
Stoppa-Lyonnet, D.5
Lenoir, G.M.6
Mazoyer, S.7
-
38
-
-
0033360968
-
An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?
-
Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pages S, Lynch HT, Goldgar D, Lenoir GM, Mazoyer S. 1999a. An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet 64:300-302.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 300-302
-
-
Puget, N.1
Sinilnikova, O.M.2
Stoppa-Lyonnet, D.3
Audoynaud, C.4
Pages, S.5
Lynch, H.T.6
Goldgar, D.7
Lenoir, G.M.8
Mazoyer, S.9
-
39
-
-
0033556051
-
Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions
-
Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pages S, Lynch HT, Lenoir GM, Mazoyer S. 1999b. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59:455-461.
-
(1999)
Cancer Res
, vol.59
, pp. 455-461
-
-
Puget, N.1
Stoppa-Lyonnet, D.2
Sinilnikova, O.M.3
Pages, S.4
Lynch, H.T.5
Lenoir, G.M.6
Mazoyer, S.7
-
40
-
-
66349098335
-
Quantitative PCR high-resolution melting (q PCRHRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome
-
Rouleau E, Lefol C, Bourdon V, Coulet F, Noguchi T, Soubrier F, Bieche I, Olschwang S, Sobol H, Lidereau R. 2009. Quantitative PCR high-resolution melting (q PCRHRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. Hum Mutat 30:867-875.
-
(2009)
Hum Mutat
, vol.30
, pp. 867-875
-
-
Rouleau, E.1
Lefol, C.2
Bourdon, V.3
Coulet, F.4
Noguchi, T.5
Soubrier, F.6
Bieche, I.7
Olschwang, S.8
Sobol, H.9
Lidereau, R.10
-
41
-
-
34548125297
-
High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1
-
Rouleau E, Lefol C, Tozlu S, Andrieu C, Guy C, Copigny F, Nogues C, Bieche I, Lidereau R. 2007. High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1. Clin Genet 72:199-207.
-
(2007)
Clin Genet
, vol.72
, pp. 199-207
-
-
Rouleau, E.1
Lefol, C.2
Tozlu, S.3
Andrieu, C.4
Guy, C.5
Copigny, F.6
Nogues, C.7
Bieche, I.8
Lidereau, R.9
-
42
-
-
60349090967
-
Combing genomic DNA for structural and functional studies
-
Schurra C, Bensimon A. 2009. Combing genomic DNA for structural and functional studies. Methods Mol Biol 464:71-90.
-
(2009)
Methods Mol Biol
, vol.464
, pp. 71-90
-
-
Schurra, C.1
Bensimon, A.2
-
43
-
-
78649331127
-
Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation
-
Sluiter MD, van Rensburg EJ. 2011. Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Res Treat 125:325-349.
-
(2011)
Breast Cancer Res Treat
, vol.125
, pp. 325-349
-
-
Sluiter, M.D.1
van Rensburg, E.J.2
-
44
-
-
42049084015
-
Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)
-
Staaf J, Torngren T, Rambech E, Johansson U, Persson C, Sellberg G, Tellhed L, Nilbert M, Borg A. 2008. Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH). Hum Mutat 29:555-564.
-
(2008)
Hum Mutat
, vol.29
, pp. 555-564
-
-
Staaf, J.1
Torngren, T.2
Rambech, E.3
Johansson, U.4
Persson, C.5
Sellberg, G.6
Tellhed, L.7
Nilbert, M.8
Borg, A.9
-
45
-
-
0033866487
-
The breast cancer information core: database design, structure, and scope
-
Szabo C, Masiello A, Ryan JF, Brody LC. 2000. The breast cancer information core: database design, structure, and scope. Hum Mutat 16:123-131.
-
(2000)
Hum Mutat
, vol.16
, pp. 123-131
-
-
Szabo, C.1
Masiello, A.2
Ryan, J.F.3
Brody, L.C.4
-
46
-
-
8544240875
-
Significant contribution of germline BRCA2 rearrangements in male breast cancer families
-
Tournier I, Paillerets BB, Sobol H, Stoppa-Lyonnet D, Lidereau R, Barrois M, Mazoyer S, Coulet F, Hardouin A, Chompret A and others. 2004. Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 64:8143-8147.
-
(2004)
Cancer Res
, vol.64
, pp. 8143-8147
-
-
Tournier, I.1
Paillerets, B.B.2
Sobol, H.3
Stoppa-Lyonnet, D.4
Lidereau, R.5
Barrois, M.6
Mazoyer, S.7
Coulet, F.8
Hardouin, A.9
Chompret, A.10
-
47
-
-
33645084562
-
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
-
Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S and others. 2006. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295:1379-1388.
-
(2006)
JAMA
, vol.295
, pp. 1379-1388
-
-
Walsh, T.1
Casadei, S.2
Coats, K.H.3
Swisher, E.4
Stray, S.M.5
Higgins, J.6
Roach, K.C.7
Mandell, J.8
Lee, M.K.9
Ciernikova, S.10
-
48
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. 2010. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 107:12629-12633.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
Thornton, A.M.4
Stray, S.M.5
Pennil, C.6
Nord, A.S.7
Mandell, J.B.8
Swisher, E.M.9
King, M.C.10
-
49
-
-
33746907114
-
Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing
-
Yap KP, Ang P, Lim IH, Ho GH, Lee AS. 2006. Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing. Clin Genet 70:80-82.
-
(2006)
Clin Genet
, vol.70
, pp. 80-82
-
-
Yap, K.P.1
Ang, P.2
Lim, I.H.3
Ho, G.H.4
Lee, A.S.5
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