-
1
-
-
35748929114
-
Founder mutations in BRCA1 and BRCA2 genes
-
10.1093/annonc/mdm234 17591843 10.1093/annonc/mdm234
-
R Ferla V Calò S Cascio, et al. 2007 Founder mutations in BRCA1 and BRCA2 genes Ann Oncol 18 Suppl 6 vi93 vi98 10.1093/annonc/mdm234 17591843 10.1093/annonc/mdm234
-
(2007)
Ann Oncol
, vol.18
, Issue.SUPPL 6
-
-
Ferla, R.1
Calò, V.2
Cascio, S.3
-
2
-
-
0035434628
-
Evidence of a founder mutation of BRCA1 in a highly homogeneous population from Southern Italy with breast/ovarian cancer
-
10.1002/humu.1167 11462242 10.1002/humu.1167 1:STN:280: DC%2BD38%2FisVOitg%3D%3D
-
F Baudi B Quaresima C Grandinetti, et al. 2001 Evidence of a founder mutation of BRCA1 in a highly homogeneous population from Southern Italy with breast/ovarian cancer Hum Mutat 18 163 164 10.1002/humu.1167 11462242 10.1002/humu.1167 1:STN:280:DC%2BD38%2FisVOitg%3D%3D
-
(2001)
Hum Mutat
, vol.18
, pp. 163-164
-
-
Baudi, F.1
Quaresima, B.2
Grandinetti, C.3
-
3
-
-
42149149867
-
Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis
-
10.1111/j.1469-1809.2007.00420.x 18215206 10.1111/j.1469-1809.2007.00420. x 1:CAS:528:DC%2BD1cXmtlSns7w%3D
-
F Marroni G Cipollini B Peissel, et al. 2008 Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis Ann Hum Genet 72 310 318 10.1111/j.1469-1809.2007.00420.x 18215206 10.1111/j.1469-1809.2007.00420.x 1:CAS:528:DC%2BD1cXmtlSns7w%3D
-
(2008)
Ann Hum Genet
, vol.72
, pp. 310-318
-
-
Marroni, F.1
Cipollini, G.2
Peissel, B.3
-
4
-
-
37849010906
-
BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy
-
10.1200/JCO.2007.13.2118 18165637 10.1200/JCO.2007.13.2118 1:CAS:528:DC%2BD1cXhsVCrs7Y%3D
-
S Malacrida S Agata M Callegaro, et al. 2008 BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy J Clin Oncol 26 26 31 10.1200/JCO.2007.13.2118 18165637 10.1200/JCO.2007.13.2118 1:CAS:528:DC%2BD1cXhsVCrs7Y%3D
-
(2008)
J Clin Oncol
, vol.26
, pp. 26-31
-
-
Malacrida, S.1
Agata, S.2
Callegaro, M.3
-
5
-
-
0033950773
-
Identification of a founder BRCA2 mutation in Sardinia
-
10.1054/bjoc.1999.0963 10682665 10.1054/bjoc.1999.0963 1:CAS:528:DC%2BD3cXht1eisLw%3D
-
M Pisano A Cossu I Persico, et al. 2000 Identification of a founder BRCA2 mutation in Sardinia Br J Cancer 82 553 559 10.1054/bjoc.1999.0963 10682665 10.1054/bjoc.1999.0963 1:CAS:528:DC%2BD3cXht1eisLw%3D
-
(2000)
Br J Cancer
, vol.82
, pp. 553-559
-
-
Pisano, M.1
Cossu, A.2
Persico, I.3
-
6
-
-
33847135671
-
Identification of a founder BRCA2 mutation in Sardinian breast cancer families
-
DOI 10.1007/s10689-006-9107-7
-
M Monne G Piras P Fancello, et al. 2007 Identification of a founder BRCA2 mutation in Sardinian breast cancer families Fam Cancer 6 73 79 10.1007/s10689-006-9107-7 17216544 10.1007/s10689-006-9107-7 1:CAS:528:DC%2BD2sXhslWjtr0%3D (Pubitemid 46295301)
-
(2007)
Familial Cancer
, vol.6
, Issue.1
, pp. 73-79
-
-
Monne, M.1
Piras, G.2
Fancello, P.3
Santona, M.C.4
Uras, A.5
Landriscina, G.6
Mastio, G.7
Gabbas, A.8
-
7
-
-
0036605379
-
BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes
-
DOI 10.1200/JCO.2002.05.121
-
DA Berry ES Iversen Jr DF Gudbjartsson, et al. 2002 BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes J Clin Oncol 20 2701 2712 10.1200/JCO.2002.05.121 12039933 10.1200/JCO.2002.05.121 1:CAS:528:DC%2BD38XkvF2mtrs%3D (Pubitemid 34575644)
-
(2002)
Journal of Clinical Oncology
, vol.20
, Issue.11
, pp. 2701-2712
-
-
Berry, D.A.1
Iversen Jr., E.S.2
Gudbjartsson, D.F.3
Hiller, E.H.4
Garber, J.E.5
Peshkin, B.N.6
Lerman, C.7
Watson, P.8
Lynch, H.T.9
Hilsenbeck, S.G.10
Rubinstein, W.S.11
Hughes, K.S.12
Parmigiani, G.13
-
8
-
-
70349581484
-
BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: A population-based study in Central Italy
-
10.1007/s10549-008-0194-z
-
L Ottini P Rizzolo I Zanna, et al. 2008 BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in Central Italy Breast Cancer Res Treat 10.1007/s10549-008-0194-z
-
(2008)
Breast Cancer Res Treat
-
-
Ottini, L.1
Rizzolo, P.2
Zanna, I.3
-
9
-
-
0036300177
-
DMLE+: Bayesian linkage disequilibrium gene mapping
-
10.1093/bioinformatics/18.6.894 12075030 10.1093/bioinformatics/18.6.894 1:CAS:528:DC%2BD38Xlt1Srur0%3D
-
JP Reeve B Rannala 2002 DMLE+: Bayesian linkage disequilibrium gene mapping Bioinformatics 18 894 895 10.1093/bioinformatics/18.6.894 12075030 10.1093/bioinformatics/18.6.894 1:CAS:528:DC%2BD38Xlt1Srur0%3D
-
(2002)
Bioinformatics
, vol.18
, pp. 894-895
-
-
Reeve, J.P.1
Rannala, B.2
-
10
-
-
0034973984
-
High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence
-
DOI 10.1086/321279
-
B Rannala JP Reeve 2001 High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence Am J Hum Genet 69 159 178 10.1086/321279 11410841 10.1086/321279 1:CAS:528:DC%2BD3MXls1emt7c%3D (Pubitemid 32614028)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.1
, pp. 159-178
-
-
Rannala, B.1
Reeve, J.P.2
-
11
-
-
0034748570
-
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation
-
DOI 10.1038/sj.ejhg.5200704
-
A Bergman Z Einbeigi U Olofsson, et al. 2001 The western Swedish BRCA1 founder mutation 3171ins5; a 3.7cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation Eur J Hum Genet 9 787 793 10.1038/sj.ejhg.5200704 11781691 10.1038/sj.ejhg.5200704 1:CAS:528: DC%2BD3MXpt1eitLw%3D (Pubitemid 33014592)
-
(2001)
European Journal of Human Genetics
, vol.9
, Issue.10
, pp. 787-793
-
-
Bergman, A.1
Einbeigi, Z.2
Olofsson, U.3
Taib, Z.4
Wallgren, A.5
Karlsson, P.6
Wahlstrom, J.7
Martinsson, T.8
Nordling, M.9
-
12
-
-
70349565334
-
-
In: Del Panta L, Sonnino E (eds) Le Lettere, Firenze 695
-
Beloch KJ (1995) Storia della popolazione d'Italia. In: Del Panta L, Sonnino E (eds) Le Lettere, Firenze, pp xxxii, 695
-
(1995)
Storia della Popolazione d'Italia
-
-
Beloch, K.J.1
-
13
-
-
0028826709
-
Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
-
8533776 1:CAS:528:DyaK28XktFSisw%3D%3D
-
D Ford DF Easton J Peto 1995 Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence Am J Hum Genet 57 1457 1462 8533776 1:CAS:528:DyaK28XktFSisw%3D%3D
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1457-1462
-
-
Ford, D.1
Easton, D.F.2
Peto, J.3
-
14
-
-
0031025322
-
Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: Results from three US population-based case-control studies of ovarian cancer
-
9042908 1:STN:280:DyaK2s7psFGgtw%3D%3D
-
AS Whittemore G Gong J Itnyre 1997 Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three US population-based case-control studies of ovarian cancer Am J Hum Genet 60 496 504 9042908 1:STN:280:DyaK2s7psFGgtw%3D%3D
-
(1997)
Am J Hum Genet
, vol.60
, pp. 496-504
-
-
Whittemore, A.S.1
Gong, G.2
Itnyre, J.3
-
15
-
-
33845654907
-
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada
-
17148771 1:CAS:528:DC%2BD28XhtlCru7nJ
-
HA Risch JR McLaughlin DE Cole, et al. 2006 Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada J Natl Cancer Inst 98 1694 1706 17148771 1:CAS:528:DC%2BD28XhtlCru7nJ
-
(2006)
J Natl Cancer Inst
, vol.98
, pp. 1694-1706
-
-
Risch, H.A.1
McLaughlin, J.R.2
Cole, D.E.3
-
16
-
-
11144232963
-
Prevalence of BRCA1 mutation carriers among US non-Hispanic whites
-
15598764 1:CAS:528:DC%2BD2cXhtVOjsLvF
-
AS Whittemore G Gong EM John, et al. 2004 Prevalence of BRCA1 mutation carriers among US non-Hispanic whites Cancer Epidemiol Biomarkers Prev 13 2078 2083 15598764 1:CAS:528:DC%2BD2cXhtVOjsLvF
-
(2004)
Cancer Epidemiol Biomarkers Prev
, vol.13
, pp. 2078-2083
-
-
Whittemore, A.S.1
Gong, G.2
John, E.M.3
-
17
-
-
0037033733
-
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
-
DOI 10.1038/sj.bjc.6600008
-
AC Antoniou PD Pharoah G McMullan, et al. 2002 A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes Br J Cancer 86 76 83 10.1038/sj.bjc.6600008 11857015 10.1038/sj.bjc.6600008 1:STN:280:DC%2BD387isV2jtw%3D%3D (Pubitemid 34146344)
-
(2002)
British Journal of Cancer
, vol.86
, Issue.1
, pp. 76-83
-
-
Antoniou, A.C.1
Pharoah, P.D.P.2
McMullan, G.3
Day, N.E.4
Stratton, M.R.5
Peto, J.6
Ponder, B.J.7
Easton, D.F.8
-
18
-
-
33748970037
-
RNA-based analysis of BRCA1 and BRCA2 gene alterations
-
DOI 10.1016/j.cancergencyto.2006.05.005, PII S0165460806003542
-
F Bonatti C Pepe M Tancredi, et al. 2006 RNA-based analysis of BRCA1 and BRCA2 gene alterations Cancer Genet Cytogenet 170 93 101 10.1016/j. cancergencyto.2006.05.005 17011978 10.1016/j.cancergencyto.2006.05.005 1:CAS:528:DC%2BD28XhtVWqtrjM (Pubitemid 44442459)
-
(2006)
Cancer Genetics and Cytogenetics
, vol.170
, Issue.2
, pp. 93-101
-
-
Bonatti, F.1
Pepe, C.2
Tancredi, M.3
Lombardi, G.4
Aretini, P.5
Sensi, E.6
Falaschi, E.7
Cipollini, G.8
Bevilacqua, G.9
Caligo, M.A.10
-
19
-
-
0037439707
-
BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: A population-based study in Italy
-
12543786 1:CAS:528:DC%2BD3sXnt1KktA%3D%3D
-
L Ottini G Masala C D'Amico, et al. 2003 BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy Cancer Res 63 342 347 12543786 1:CAS:528:DC%2BD3sXnt1KktA%3D%3D
-
(2003)
Cancer Res
, vol.63
, pp. 342-347
-
-
Ottini, L.1
Masala, G.2
D'Amico, C.3
-
20
-
-
0034578466
-
Estimating allele age
-
10.1146/annurev.genom.1.1.225 11701630 10.1146/annurev.genom.1.1.225 1:CAS:528:DC%2BD3cXnsVaku7c%3D
-
M Slatkin B Rannala 2000 Estimating allele age Annu Rev Genomics Hum Genet 1 225 249 10.1146/annurev.genom.1.1.225 11701630 10.1146/annurev.genom.1. 1.225 1:CAS:528:DC%2BD3cXnsVaku7c%3D
-
(2000)
Annu Rev Genomics Hum Genet
, vol.1
, pp. 225-249
-
-
Slatkin, M.1
Rannala, B.2
-
21
-
-
16944365740
-
Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13
-
10.1086/513891 9245992 10.1086/513891 1:STN:280:DyaK2szovVOmuw%3D%3D
-
DF Easton L Steele P Fields, et al. 1997 Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13 Am J Hum Genet 61 120 128 10.1086/513891 9245992 10.1086/513891 1:STN:280:DyaK2szovVOmuw%3D%3D
-
(1997)
Am J Hum Genet
, vol.61
, pp. 120-128
-
-
Easton, D.F.1
Steele, L.2
Fields, P.3
-
22
-
-
38449107978
-
Breast cancer risk among male BRCA1 and BRCA2 mutation carriers
-
DOI 10.1093/jnci/djm203
-
YC Tai S Domchek G Parmigiani, et al. 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers J Natl Cancer Inst 99 1811 1814 10.1093/jnci/djm203 18042939 10.1093/jnci/djm203 1:CAS:528: DC%2BD1cXnvVWgsg%3D%3D (Pubitemid 351767200)
-
(2007)
Journal of the National Cancer Institute
, vol.99
, Issue.23
, pp. 1811-1814
-
-
Tai, Y.C.1
Domchek, S.2
Parmigiani, G.3
Chen, S.4
-
23
-
-
0031018551
-
Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population
-
9012404 1:CAS:528:DyaK2sXhtVCju70%3D
-
LS Friedman SA Gayther T Kurosaki, et al. 1997 Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population Am J Hum Genet 60 313 319 9012404 1:CAS:528:DyaK2sXhtVCju70%3D
-
(1997)
Am J Hum Genet
, vol.60
, pp. 313-319
-
-
Friedman, L.S.1
Gayther, S.A.2
Kurosaki, T.3
-
24
-
-
0033104409
-
High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history
-
B Csokay N Udvarhelyi Z Sulyok, et al. 1997 High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history Cancer Res 59 995 998
-
(1997)
Cancer Res
, vol.59
, pp. 995-998
-
-
Csokay, B.1
Udvarhelyi, N.2
Sulyok, Z.3
-
25
-
-
45749087330
-
BRCA1/2 mutation analysis in male breast cancer families from North West England
-
DOI 10.1007/s10689-007-9153-9
-
DG Evans M Bulman K Young, et al. 2008 BRCA1/2 mutation analysis in male breast cancer families from North West England Fam Cancer 7 113 117 10.1007/s10689-007-9153-9 17636422 10.1007/s10689-007-9153-9 1:CAS:528:DC%2BD1cXnt1Cju7Y%3D (Pubitemid 351871902)
-
(2008)
Familial Cancer
, vol.7
, Issue.2
, pp. 113-117
-
-
Evans, D.G.R.1
Bulman, M.2
Young, K.3
Howard, E.4
Bayliss, S.5
Wallace, A.6
Lalloo, F.7
-
26
-
-
0037130889
-
Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program
-
12237282 1:CAS:528:DC%2BD38Xnt1Gnurg%3D
-
MS Brose TR Rebbeck KA Calzone, et al. 2002 Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program J Natl Cancer Inst 94 1365 1372 12237282 1:CAS:528:DC%2BD38Xnt1Gnurg%3D
-
(2002)
J Natl Cancer Inst
, vol.94
, pp. 1365-1372
-
-
Brose, M.S.1
Rebbeck, T.R.2
Calzone, K.A.3
-
27
-
-
44849107960
-
G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: Evaluation of its pathogenicity and inferences on its genealogical history
-
DOI 10.1007/s10549-007-9729-y
-
T Anagnostopoulos M Pertesi I Konstantopoulou, et al. 2008 G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history Breast Cancer Res Treat 110 377 385 10.1007/s10549-007-9729-y 17902052 10.1007/s10549-007-9729-y 1:CAS:528:DC%2BD1cXmslyhu7Y%3D (Pubitemid 351793884)
-
(2008)
Breast Cancer Research and Treatment
, vol.110
, Issue.2
, pp. 377-385
-
-
Anagnostopoulos, T.1
Pertesi, M.2
Konstantopoulou, I.3
Armaou, S.4
Kamakari, S.5
Nasioulas, G.6
Athanasiou, A.7
Dobrovic, A.8
Young, M.-A.9
Goldgar, D.10
Fountzilas, G.11
Yannoukakos, D.12
-
28
-
-
0033772932
-
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland
-
DOI 10.1038/sj.ejhg.5200529
-
L Sarantaus P Huusko H Eerola, et al. 2000 Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland Eur J Hum Genet 8 757 763 10.1038/sj.ejhg.5200529 11039575 10.1038/sj.ejhg.5200529 1:STN:280:DC%2BD3cvovVKitw%3D%3D (Pubitemid 30767676)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.10
, pp. 757-763
-
-
Sarantaus, L.1
Huusko, P.2
Eerola, H.3
Launonen, V.4
Vehmanen, P.5
Rapakko, K.6
Gillanders, E.7
Syrjakoski, K.8
Kainu, T.9
Vahteristo, P.10
Krahe, R.11
Paakkonen, K.12
Hartikainen, J.13
Blomqvist, C.14
Lopponen, T.15
Holli, K.16
Ryynanen, M.17
Butzow, R.18
Borg, A.19
Arver, B.W.20
Holmberg, E.21
Mannermaa, A.22
Kere, J.23
Kallioniemi, O.-P.24
Winqvist, R.25
Nevanlinna, H.26
more..
-
29
-
-
16944365091
-
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families
-
9150151 1:CAS:528:DyaK2sXjtlOqsr8%3D
-
T Peelen M van Vliet A Petrij-Bosch, et al. 1997 A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families Am J Hum Genet 60 1041 1049 9150151 1:CAS:528:DyaK2sXjtlOqsr8%3D
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1041-1049
-
-
Peelen, T.1
Van Vliet, M.2
Petrij-Bosch, A.3
-
30
-
-
19144362921
-
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: Results of an international study
-
8571953 1:CAS:528:DyaK28XhsFWitb8%3D
-
SL Neuhausen S Mazoyer L Friedman, et al. 1996 Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study Am J Hum Genet 58 271 280 8571953 1:CAS:528: DyaK28XhsFWitb8%3D
-
(1996)
Am J Hum Genet
, vol.58
, pp. 271-280
-
-
Neuhausen, S.L.1
Mazoyer, S.2
Friedman, L.3
-
31
-
-
34249932412
-
Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes
-
DOI 10.1200/JCO.2006.06.9443
-
PM Machado RD Brandão BM Cavaco, 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 Clin Oncol 25 2027 2034 10.1200/JCO.2006.06.9443 17513806 10.1200/JCO.2006.06.9443 1:CAS:528:DC%2BD2sXmvVWms74%3D (Pubitemid 46972787)
-
(2007)
Journal of Clinical Oncology
, vol.25
, Issue.15
, pp. 2027-2034
-
-
Machado, P.M.1
Brandao, R.D.2
Cavaco, B.M.3
Eugenio, J.4
Bento, S.5
Nave, M.6
Rodrigues, P.7
Fernandes, A.8
Vaz, F.9
|