-
1
-
-
0033939978
-
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer
-
10788334 10.1086/302922
-
Górski B, Byrski T, Huzarski T, Jakubowska A et al (2000) Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 66:1963-1968
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1963-1968
-
-
Górski, B.1
Byrski, T.2
Huzarski, T.3
Jakubowska, A.4
-
2
-
-
0034533463
-
High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer
-
11102977 10.1002/1098-1004(200012)16:6<482: AID-HUMU5>3.0.CO;2-O 1:CAS:528:DC%2BD3MXhs1eksQ%3D%3D
-
Grzybowska E, Zientek H, Jasinska A et al (2000) High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer. Hum Mutat 16:482-490
-
(2000)
Hum Mutat
, vol.16
, pp. 482-490
-
-
Grzybowska, E.1
Zientek, H.2
Jasinska, A.3
-
3
-
-
0034181354
-
Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland
-
10.1002/(SICI)1098-1004(200005)15:5<480: AID-HUMU13>3.0.CO;2-G
-
van Der Looij M, Wysocka B, Brozek I et al (2000) Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland. Hum Mutat 15:480-481
-
(2000)
Hum Mutat
, vol.15
, pp. 480-481
-
-
Van Der Looij, M.1
Wysocka, B.2
Brozek, I.3
-
4
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
12060695 10.1093/nar/gnf056
-
Schouten JP, McElgunn CJ, Waaijer R et al (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 57
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
-
5
-
-
0031035045
-
A 1-kb Alu-mediated germline deletion removing BRCA1 exon 17
-
Puget N, Torchard D, Serova-Sinilnikova OM et al (1997) A 1-kb Alu-mediated germline deletion removing BRCA1 exon 17. Cancer Res 57:3-828
-
(1997)
Cancer Res
, vol.57
, pp. 3-828
-
-
Puget, N.1
Torchard, D.2
Serova-Sinilnikova, O.M.3
-
7
-
-
0038364017
-
Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
-
10.1093/hmg/ddg120 12700174 10.1093/hmg/ddg120 1:CAS:528: DC%2BD3sXkt1Krsr8%3D
-
Montagna M, Dalla Palma M, Menin C et al (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. doi: 10.1093/hmg/ddg120
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1055-1061
-
-
Montagna, M.1
Dalla Palma, M.2
Menin, C.3
-
8
-
-
0037380994
-
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
-
12670888 1:CAS:528:DC%2BD3sXisFais7g%3D
-
Hogervorst FB, Nederlof PM, Gille JJ et al (2003) Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63:1449-1453
-
(2003)
Cancer Res
, vol.63
, pp. 1449-1453
-
-
Hogervorst, F.B.1
Nederlof, P.M.2
Gille, J.J.3
-
9
-
-
78649331127
-
Large genomic rearrangements of the BRCA1 and BRCA2 genes: Review of the literature and report of a novel BRCA1 mutation
-
10.1007/s10549-010-0817-z 20232141 10.1007/s10549-010-0817-z 1:CAS:528:DC%2BC3cXhsFCqt7%2FF
-
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. doi: 10.1007/s10549-010-0817-z
-
(2011)
Breast Cancer Res Treat
, vol.125
, pp. 325-349
-
-
Sluiter, M.D.1
Van Rensburg, E.J.2
-
10
-
-
38749123478
-
BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland
-
18097605 1:CAS:528:DC%2BD1cXhtFKqs7w%3D
-
Ratajska M, Brozek I, Senkus-Konefka E et al (2008) BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland. Oncol Rep 19:263-268
-
(2008)
Oncol Rep
, vol.19
, pp. 263-268
-
-
Ratajska, M.1
Brozek, I.2
Senkus-Konefka, E.3
-
11
-
-
0034907774
-
Detection of germline mutations in the BRCA1 gene by RNA-based sequencing
-
11462239 10.1002/humu.1164 1:CAS:528:DC%2BD3MXmslWmtLY%3D
-
Jakubowska A, Górski B, Byrski T et al (2001) Detection of germline mutations in the BRCA1 gene by RNA-based sequencing. Hum Mutat 18:149-156
-
(2001)
Hum Mutat
, vol.18
, pp. 149-156
-
-
Jakubowska, A.1
Górski, B.2
Byrski, T.3
-
12
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
10.1007/s004390100505 1:CAS:528:DC%2BD3MXltlGqtLw%3D
-
denDunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Dendunnen, J.T.1
Antonarakis, S.E.2
-
13
-
-
84890376298
-
-
ReapetMasker: http://www.repeatmasker.org
-
ReapetMasker
-
-
-
14
-
-
33746795547
-
Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations
-
16715518 10.1002/gcc.20342 1:CAS:528:DC%2BD28Xotlehur8%3D
-
Agata S, Viel A, Della Puppa L, Cortesi L et al (2006) Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations. Genes Chromosom Cancer 45:791-797
-
(2006)
Genes Chromosom Cancer
, vol.45
, pp. 791-797
-
-
Agata, S.1
Viel, A.2
Della Puppa, L.3
Cortesi, L.4
-
15
-
-
28744446802
-
Large BRCA1 gene deletions are found in 3 % of German high-risk breast cancer families
-
15532023 10.1002/humu.9291
-
Hartmann C, John AL, Klaes R et al (2004) Large BRCA1 gene deletions are found in 3 % of German high-risk breast cancer families. Hum Mutat 24:534
-
(2004)
Hum Mutat
, vol.24
, pp. 534
-
-
Hartmann, C.1
John, A.L.2
Klaes, R.3
-
16
-
-
18644382608
-
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
-
12360411 10.1038/sj.onc.1205685 1:CAS:528:DC%2BD38XntFent7c%3D
-
Gad S, Caux-Moncoutier V, Pagès-Berhouet S et al (2002) 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
Pagès-Berhouet, S.3
-
17
-
-
34347223992
-
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
-
10.1186/1471-2350-8-32 17561994 10.1186/1471-2350-8-32
-
Vasickova P, Machackova E, Lukesova M et al (2007) High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Med Genet 8:32. doi: 10.1186/1471-2350-8-32
-
(2007)
BMC Med Genet
, vol.8
, pp. 32
-
-
Vasickova, P.1
Machackova, E.2
Lukesova, M.3
-
18
-
-
33745726046
-
Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark
-
16843109 10.1016/j.cancergencyto.2005.12.016 1:CAS:528: DC%2BD28Xmslyktbs%3D
-
Thomassen M, Gerdes AM, Cruger D et al (2006) Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Cancer Genet Cytogenet 168:168-171
-
(2006)
Cancer Genet Cytogenet
, vol.168
, pp. 168-171
-
-
Thomassen, M.1
Gerdes, A.M.2
Cruger, D.3
-
19
-
-
52449104671
-
Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families
-
10.1186/1471-2350-9-83 18783588 10.1186/1471-2350-9-83
-
Krajc M, Teugels E, Zgajnar J et al (2008) Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families. BMC Med Genet 9:83. doi: 10.1186/1471-2350-9-83
-
(2008)
BMC Med Genet
, vol.9
, pp. 83
-
-
Krajc, M.1
Teugels, E.2
Zgajnar, J.3
-
20
-
-
33645084562
-
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
-
16551709 10.1001/jama.295.12.1379 1:CAS:528:DC%2BD28Xislehurs%3D
-
Walsh T, Casadei S, Coats KH et al (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
-
21
-
-
52049088505
-
The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families
-
10.1158/0008-5472 18703817 10.1158/0008-5472.CAN-08-0599
-
Palma MD, Domchek SM, Stopfer J et al (2008) The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res 68:7006-7014. doi: 10.1158/0008-5472
-
(2008)
Cancer Res
, vol.68
, pp. 7006-7014
-
-
Palma, M.D.1
Domchek, S.M.2
Stopfer, J.3
-
22
-
-
67349199178
-
Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women
-
10.1007/s10689-008-9216-6 18798010 10.1007/s10689-008-9216-6
-
Distelman-Menachem T, Shapira T, Laitman Y et al (2009) Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women. Fam Cancer 8:127-133. doi: 10.1007/s10689-008-9216-6
-
(2009)
Fam Cancer
, vol.8
, pp. 127-133
-
-
Distelman-Menachem, T.1
Shapira, T.2
Laitman, Y.3
-
23
-
-
77956191564
-
Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families
-
10.1007/s10549-010-0818-y 10.1007/s10549-010-0818-y
-
Stadler ZK, Saloustros E, Hansen NA et al (2011) Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families. Breast Cancer Res Treat 123:581-585. doi: 10.1007/s10549-010-0818-y
-
(2011)
Breast Cancer Res Treat
, vol.123
, pp. 581-585
-
-
Stadler, Z.K.1
Saloustros, E.2
Hansen, N.A.3
-
24
-
-
78649335197
-
Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: High proportion of population specific alterations in BRCA1 gene
-
10.1007/s10549-010-0745-y 20135348 10.1007/s10549-010-0745-y 1:CAS:528:DC%2BC3cXht12qurzJ
-
Ticha I, Kleibl Z, Stribrna J et al (2010) Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene. Breast Cancer Res Treat 124:337-347. doi: 10.1007/s10549-010-0745-y
-
(2010)
Breast Cancer Res Treat
, vol.124
, pp. 337-347
-
-
Ticha, I.1
Kleibl, Z.2
Stribrna, J.3
-
25
-
-
79953086387
-
Founder BRCA1/2 mutations in the Europe: Implications for hereditary breast-ovarian cancer prevention and control
-
10.1007/s13167-010-0037-y 23199084 10.1007/s13167-010-0037-y
-
Janavičius R (2010) Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J 1:397-412. doi: 10.1007/s13167-010-0037-y
-
(2010)
EPMA J
, vol.1
, pp. 397-412
-
-
Janavičius, R.1
-
26
-
-
16944363592
-
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
-
9354803 10.1038/ng1197-341
-
Petrij-Bosch A, Peelen T, van Vliet M et al (1997) BRCA1 genomic 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
-
27
-
-
21144436491
-
Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families
-
15846789 10.1002/gcc.20189 1:CAS:528:DC%2BD2MXkslemurg%3D
-
Hendrickson BC, Judkins T, Ward B et al (2005) Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. Genes Chromosom Cancer 43:309-313
-
(2005)
Genes Chromosom Cancer
, vol.43
, pp. 309-313
-
-
Hendrickson, B.C.1
Judkins, T.2
Ward, B.3
-
28
-
-
18744401644
-
Genomic rearrangements in the BRCA1 and BRCA2 genes
-
15832305 10.1002/humu.20169 1:CAS:528:DC%2BD2MXps1Cltbk%3D
-
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
-
29
-
-
0033988223
-
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families
-
10638982 10.1054/bjoc.1999.0892 1:CAS:528:DC%2BD3cXltFWktw%3D%3D
-
Peelen T, van Vliet M, Bosch A et al (2000) Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families. Br J Cancer 82:151-156
-
(2000)
Br J Cancer
, vol.82
, pp. 151-156
-
-
Peelen, T.1
Van Vliet, M.2
Bosch, A.3
-
30
-
-
0034823930
-
Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families
-
11566341 10.1016/S0165-4608(01)00437-X
-
Lahti-Domenici J, Rapakko K, Pääkkönen K et al (2001) Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families. Cancer Genet Cytogenet 129:120-123
-
(2001)
Cancer Genet Cytogenet
, vol.129
, pp. 120-123
-
-
Lahti-Domenici, J.1
Rapakko, K.2
Pääkkönen, K.3
-
31
-
-
33645100274
-
Large genomic deletions inactivate the BRCA2 gene in breast cancer families
-
10.1136/jmg.2005.032789 16199546 10.1136/jmg.2005.032789 1:STN:280:DC%2BD2MrisV2isg%3D%3D
-
Agata S, Dalla Palma M, Callegaro M et al (2005) Large genomic deletions inactivate the BRCA2 gene in breast cancer families. J Med Genet 42:e64. doi: 10.1136/jmg.2005.032789
-
(2005)
J Med Genet
, vol.42
, pp. 64
-
-
Agata, S.1
Dalla Palma, M.2
Callegaro, M.3
-
32
-
-
8544240875
-
Significant contribution of germline BRCA2 rearrangements in male breast cancer families
-
15548676 10.1158/0008-5472.CAN-04-2467 1:CAS:528:DC%2BD2cXpvVGltb0%3D
-
Tournier I, Paillerets BB, Sobol H et al (2004) Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 64(22):8143-8147
-
(2004)
Cancer Res
, vol.64
, Issue.22
, pp. 8143-8147
-
-
Tournier, I.1
Paillerets, B.B.2
Sobol, H.3
-
33
-
-
34548107829
-
The contribution of germline rearrangements to the spectrum of BRCA2 mutations
-
16950820 10.1136/jmg.2005.040212 1:STN:280:DC%2BD28ris1Wlug%3D%3D
-
Casilli F, Tournier I, Sinilnikova OM et al (2006) The contribution of germline rearrangements to the spectrum of BRCA2 mutations. J Med Genet 43:e49
-
(2006)
J Med Genet
, vol.43
, pp. 49
-
-
Casilli, F.1
Tournier, I.2
Sinilnikova, O.M.3
-
34
-
-
34247490187
-
Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer
-
10.1007/s10549-006-9376-8 17063271 10.1007/s10549-006-9376-8
-
Gutiérrez-Enríquez S, de la Hoya M, Martínez-Bouzas C et al (2007) Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat 103:103-107. doi: 10.1007/s10549-006-9376-8
-
(2007)
Breast Cancer Res Treat
, vol.103
, pp. 103-107
-
-
Gutiérrez-Enríquez, S.1
De La Hoya, M.2
Martínez-Bouzas, C.3
-
35
-
-
77955557826
-
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes
-
10.1007/s10549-009-0613-9 19894111 10.1007/s10549-009-0613-9
-
Del Valle J, Feliubadalo L, Nadal M et al (2009) Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat 122:733-743. doi: 10.1007/s10549-009-0613-9
-
(2009)
Breast Cancer Res Treat
, vol.122
, pp. 733-743
-
-
Del Valle, J.1
Feliubadalo, L.2
Nadal, M.3
-
36
-
-
0032054311
-
A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family
-
9537232 1:CAS:528:DyaK1cXit1elu7Y%3D
-
Nordling M, Karlsson P, Wahlström et al (1998) A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Res 58:1372-1375
-
(1998)
Cancer Res
, vol.58
, pp. 1372-1375
-
-
Nordling, M.1
Karlsson, P.2
Wahlström3
-
37
-
-
34249932412
-
Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes
-
10.1200/JCO.2006.06.9443 10.1200/JCO.2006.06.9443 1:CAS:528: DC%2BD2sXmvVWms74%3D
-
Machado PM, Brandão RD, Cavaco BM et al (2007) Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J ClinOncol 25:2027-2034. doi: 10.1200/JCO.2006.06.9443
-
(2007)
J ClinOncol
, vol.25
, pp. 2027-2034
-
-
Machado, P.M.1
Brandão, R.D.2
Cavaco, B.M.3
-
38
-
-
58849092856
-
The c.156-157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
-
10.1007/s10549-008-9978-4 18363094 10.1007/s10549-008-9978-4 1:CAS:528:DC%2BD1MXhtVehsL8%3D
-
Peixoto A, Santos C, Rocha P et al (2009) The c.156-157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast Cancer Res Treat 114:31-38. doi: 10.1007/s10549-008-9978-4
-
(2009)
Breast Cancer Res Treat
, vol.114
, pp. 31-38
-
-
Peixoto, A.1
Santos, C.2
Rocha, P.3
-
39
-
-
33645106126
-
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
-
15863663 10.1136/jmg.2004.027961 1:STN:280:DC%2BD2M3ivFSrug%3D%3D
-
Woodward AM, Davis TA, Silva AG et al (2005) Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 42(5):e31
-
(2005)
J Med Genet
, vol.42
, Issue.5
, pp. 31
-
-
Woodward, A.M.1
Davis, T.A.2
Silva, A.G.3
|