-
1
-
-
0025613812
-
Linkage of early-onset familial breast cancer to chromosome 17q21.
-
Hall JM, Lee MK, Newman B et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990: 250: 1684-1689.
-
(1990)
Science
, vol.250
, pp. 1684-1689
-
-
Hall, J.M.1
Lee, M.K.2
Newman, B.3
-
2
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
-
Miki Y, Swensen J, Shattuck-Eidens D et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994: 266: 66-71.
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
Swensen, J.2
Shattuck-Eidens, D.3
-
3
-
-
0031035045
-
A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17.
-
Puget N, Torchard D, Serova-Sinilnikova OM et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res 1997: 57: 828-831.
-
(1997)
Cancer Res
, vol.57
, pp. 828-831
-
-
Puget, N.1
Torchard, D.2
Serova-Sinilnikova, O.M.3
-
4
-
-
18744401644
-
Genomic rearrangements in the BRCA1 and BRCA2 genes.
-
Review
-
Mazoyer S. Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 2005: 25: 415-422 (Review).
-
(2005)
Hum Mutat
, vol.25
, pp. 415-422
-
-
Mazoyer, S.1
-
5
-
-
78650972420
-
Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation.
-
e-pub ahead of print
-
Sluiter MD, van Rensburg EJ. Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Res Treat 2010 (e-pub ahead of print).
-
(2010)
Breast Cancer Res Treat
-
-
Sluiter, M.D.1
van Rensburg, E.J.2
-
6
-
-
0030902227
-
Population genetics of BRCA1 and BRCA2.
-
Szabo CI, King MC. Population genetics of BRCA1 and BRCA2. Am J Hum Genet 1997: 60: 1013-1020.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1013-1020
-
-
Szabo, C.I.1
King, M.C.2
-
7
-
-
35748929114
-
Founder mutations in BRCA1 and BRCA2 genes.
-
Symposium Article
-
Ferla R, Calò V, Cascio S et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 2007: 18(Suppl 6): vi93-vi98 (Symposium Article).
-
(2007)
Ann Oncol
, vol.18
, Issue.SUPPL. 6
-
-
Ferla, R.1
Calò, V.2
Cascio, S.3
-
8
-
-
0029050356
-
BRCA1 mutations in Ashkenazi Jewish women.
-
Tonin P, Serova O, Lenoir G et al. BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 1995: 57: 189.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 189
-
-
Tonin, P.1
Serova, O.2
Lenoir, G.3
-
9
-
-
19144362921
-
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.
-
Neuhausen SL, Mazoyer S, Friedman L et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 1996: 58: 271-280.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 271-280
-
-
Neuhausen, S.L.1
Mazoyer, S.2
Friedman, L.3
-
10
-
-
0029819184
-
The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2.
-
Peelen T, Cornelis RS, van Vliet M et al. The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2. Eur J Hum Genet 1996: 4: 225-230.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 225-230
-
-
Peelen, T.1
Cornelis, R.S.2
van Vliet, M.3
-
11
-
-
0032231382
-
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families.
-
Tonin PN, Mes-Masson AM, Futreal PA et al. Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet 1998: 63: 1341-1351.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1341-1351
-
-
Tonin, P.N.1
Mes-Masson, A.M.2
Futreal, P.A.3
-
12
-
-
17144438856
-
Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients.
-
Bergthorsson JT, Jonasdottir A, Johannesdottir G et al. Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients. Hum Mutat 1998: (Suppl 1): S195-S197.
-
(1998)
Hum Mutat
, Issue.SUPPL. 1
-
-
Bergthorsson, J.T.1
Jonasdottir, A.2
Johannesdottir, G.3
-
13
-
-
0035201751
-
Genetic epidemiology of BRCA1 mutations in Norway.
-
Møller P, Heimdal K, Apold J et al. Genetic epidemiology of BRCA1 mutations in Norway. Eur J Cancer 2001: 37: 2428-2434.
-
(2001)
Eur J Cancer
, vol.37
, pp. 2428-2434
-
-
Møller, P.1
Heimdal, K.2
Apold, J.3
-
14
-
-
2942572799
-
A high proportion of founder BRCA1 mutations in Polish breast cancer families.
-
Górski B, Jakubowska A, Huzarski T et al. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer 2004: 110: 683-686.
-
(2004)
Int J Cancer
, vol.110
, pp. 683-686
-
-
Górski, B.1
Jakubowska, A.2
Huzarski, T.3
-
15
-
-
44849107960
-
G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.
-
Anagnostopoulos T, Pertesi M, Konstantopoulou I et al. 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 2008: 110: 377-385.
-
(2008)
Breast Cancer Res Treat
, vol.110
, pp. 377-385
-
-
Anagnostopoulos, T.1
Pertesi, M.2
Konstantopoulou, I.3
-
16
-
-
0029804093
-
Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.
-
Smith TM, Lee MK, Szabo CI et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 1996: 6: 1029-1049.
-
(1996)
Genome Res
, vol.6
, pp. 1029-1049
-
-
Smith, T.M.1
Lee, M.K.2
Szabo, C.I.3
-
17
-
-
62549134411
-
Mechanisms for human genomic rearrangements.
-
Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics 2008: 1: 4.
-
(2008)
Pathogenetics
, vol.1
, pp. 4
-
-
Gu, W.1
Zhang, F.2
Lupski, J.R.3
-
18
-
-
0036206745
-
Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot.
-
Puget N, Gad S, Perrin-Vidoz L et al. Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 2002: 70: 858-865.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 858-865
-
-
Puget, N.1
Gad, S.2
Perrin-Vidoz, L.3
-
19
-
-
16944363592
-
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.
-
Petrij-Bosch A, Peelen T, van Vliet M et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997: 17: 341-345.
-
(1997)
Nat Genet
, vol.17
, pp. 341-345
-
-
Petrij-Bosch, A.1
Peelen, T.2
van Vliet, M.3
-
20
-
-
28744446802
-
Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.
-
Hartmann C, John AL, Klaes R et al. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 2004: 24: 534.
-
(2004)
Hum Mutat
, vol.24
, pp. 534
-
-
Hartmann, C.1
John, A.L.2
Klaes, R.3
-
21
-
-
67349101217
-
Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.
-
Hansen TO, Jønson L, Albrechtsen A et al. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families. Breast Cancer Res Treat 2009: 115: 315-323.
-
(2009)
Breast Cancer Res Treat
, vol.115
, pp. 315-323
-
-
Hansen, T.O.1
Jønson, L.2
Albrechtsen, A.3
-
22
-
-
34548076029
-
Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families.
-
Weitzel JN, Lagos VI, Herzog JS et al. Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 2007: 16: 1615-1620.
-
(2007)
Cancer Epidemiol Biomarkers Prev
, vol.16
, pp. 1615-1620
-
-
Weitzel, J.N.1
Lagos, V.I.2
Herzog, J.S.3
-
23
-
-
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.
-
Ticha I, Kleibl Z, Stribrna J et al. 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 2010.
-
(2010)
Breast Cancer Res Treat
-
-
Ticha, I.1
Kleibl, Z.2
Stribrna, J.3
-
24
-
-
0033909581
-
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations.
-
The BRCA1 Exon 13 Duplication Screening Group
-
The BRCA1 Exon 13 Duplication Screening Group. The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. Am J Hum Genet 2000: 67: 207-212.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 207-212
-
-
-
25
-
-
13144292425
-
Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer.
-
Belogianni I, Apessos A, Mihalatos M et al. Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. BMC Cancer 2004: 4: 61.
-
(2004)
BMC Cancer
, vol.4
, pp. 61
-
-
Belogianni, I.1
Apessos, A.2
Mihalatos, M.3
-
26
-
-
33846317838
-
Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients.
-
Armaou S, Konstantopoulou I, Anagnostopoulos T et al. Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients. Eur J Cancer 2007: 43: 443-453.
-
(2007)
Eur J Cancer
, vol.43
, pp. 443-453
-
-
Armaou, S.1
Konstantopoulou, I.2
Anagnostopoulos, T.3
-
27
-
-
38649139360
-
Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.
-
Konstantopoulou I, Rampias T, Ladopoulou A et al. Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients. Breast Cancer Res Treat 2008: 107: 431-441.
-
(2008)
Breast Cancer Res Treat
, vol.107
, pp. 431-441
-
-
Konstantopoulou, I.1
Rampias, T.2
Ladopoulou, A.3
-
28
-
-
67649866244
-
Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases.
-
Armaou S, Pertesi M, Fostira F et al. Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases. Br J Cancer 2009: 101: 32-37.
-
(2009)
Br J Cancer
, vol.101
, pp. 32-37
-
-
Armaou, S.1
Pertesi, M.2
Fostira, F.3
-
29
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells.
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
30
-
-
34250211432
-
A brief review of short tandem repeat mutation.
-
Review
-
Fan H, Chu JY. A brief review of short tandem repeat mutation. Genomics Proteomics Bioinformatics 2007: 5 (1): 7-14 (Review).
-
(2007)
Genomics Proteomics Bioinformatics
, vol.5
, Issue.1
, pp. 7-14
-
-
Fan, H.1
Chu, J.Y.2
-
31
-
-
0032168989
-
Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations.
-
Kruglyak S, Durrett RT, Schug MD et al. Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations. Proc Natl Acad Sci USA 1998: 95 (18): 10774-10778.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, Issue.18
, pp. 10774-10778
-
-
Kruglyak, S.1
Durrett, R.T.2
Schug, M.D.3
|