-
1
-
-
18644382608
-
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
-
Gad S, Caux-Moncoutier V, Pages-Berhouet S, et al. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 2002;21:6841-7.
-
(2002)
Oncogene
, vol.21
, pp. 6841-6847
-
-
Gad, S.1
Caux-Moncoutier, V.2
Pages-Berhouet, S.3
-
2
-
-
34548107829
-
The contribution of germline rearrangements to the spectrum of BRCA2 mutations
-
Casilli F, Tournier I, Sinilnikova OM, et al. The contribution of germline rearrangements to the spectrum of BRCA2 mutations. J Med Genet 2006;43:e49.
-
(2006)
J Med Genet
, vol.43
-
-
Casilli, F.1
Tournier, I.2
Sinilnikova, O.M.3
-
3
-
-
18744401644
-
Genomic rearrangements in the BRCA1 and BRCA2 genes
-
Mazoyer S. Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 2005;25:415-22.
-
(2005)
Hum Mutat
, vol.25
, pp. 415-422
-
-
Mazoyer, S.1
-
4
-
-
33645084562
-
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high riskof breast cancer
-
Walsh T, Casadei S, Coats KH, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high riskof breast cancer. JAMA 2006;295:1379-88.
-
(2006)
JAMA
, vol.295
, pp. 1379-1388
-
-
Walsh, T.1
Casadei, S.2
Coats, K.H.3
-
5
-
-
34247490187
-
Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer
-
Gutierrez-Enriquez S, de La Hoya M, Martinez-Bouzas C, et al. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat 2007;103:103-7.
-
(2007)
Breast Cancer Res Treat
, vol.103
, pp. 103-107
-
-
Gutierrez-Enriquez, S.1
de La Hoya, M.2
Martinez-Bouzas, C.3
-
6
-
-
33746640064
-
Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
-
de la Hoya M, Gutierrez-Enriquez S, Velasco E, et al. Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem 2006;52:1480-5.
-
(2006)
Clin Chem
, vol.52
, pp. 1480-1485
-
-
de la Hoya, M.1
Gutierrez-Enriquez, S.2
Velasco, E.3
-
7
-
-
0036778597
-
The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors
-
Kolomietz E, Meyn MS, Pandita A, Squire JA. The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 2002;35:97-112.
-
(2002)
Genes Chromosomes Cancer
, vol.35
, pp. 97-112
-
-
Kolomietz, E.1
Meyn, M.S.2
Pandita, A.3
Squire, J.A.4
-
8
-
-
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;6:1029-49.
-
(1996)
Genome Res
, vol.6
, pp. 1029-1049
-
-
Smith, T.M.1
Lee, M.K.2
Szabo, C.I.3
-
9
-
-
0036498727
-
Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers
-
Scheuer L, Kauff N, Robson M, et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 2002;20:1260-8.
-
(2002)
J Clin Oncol
, vol.20
, pp. 1260-1268
-
-
Scheuer, L.1
Kauff, N.2
Robson, M.3
-
10
-
-
0032910698
-
Racial differences in testing motivation and psychological distress following pretest education for BRCA1 gene testing
-
Lerman C, Hughes C, Benkendorf JL, et al. Racial differences in testing motivation and psychological distress following pretest education for BRCA1 gene testing. Cancer Epidemiol Biomarkers Prev 1999;8:361 -7.
-
(1999)
Cancer Epidemiol Biomarkers Prev
, vol.8
, pp. 361-367
-
-
Lerman, C.1
Hughes, C.2
Benkendorf, J.L.3
-
11
-
-
0042821770
-
Early use of clinical BRCA1/2 testing: Associations with race and breast cancer risk
-
Armstrong K, Weber B, Stopfer J, et al. Early use of clinical BRCA1/2 testing: associations with race and breast cancer risk. Am J Med Genet A 2003;117:154-60.
-
(2003)
Am J Med Genet A
, vol.117
, pp. 154-160
-
-
Armstrong, K.1
Weber, B.2
Stopfer, J.3
-
12
-
-
0033292008
-
Risk communication in genetic testing for cancer susceptibility
-
Croyle RT, Lerman C. Risk communication in genetic testing for cancer susceptibility. J Natl Cancer Inst Monogr 1999;25:59-66.
-
(1999)
J Natl Cancer Inst Monogr
, vol.25
, pp. 59-66
-
-
Croyle, R.T.1
Lerman, C.2
-
13
-
-
0030826189
-
Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk
-
Hughes C, Gomez-Caminero A, Benkendorf J, et al. Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk. Patient Educ Couns 1997;32:51-62.
-
(1997)
Patient Educ Couns
, vol.32
, pp. 51-62
-
-
Hughes, C.1
Gomez-Caminero, A.2
Benkendorf, J.3
-
14
-
-
0029836328
-
Ethnic differences in riskpe rception among women at increased riskfor breast cancer
-
Hughes C, Lerman C, Lustbader E. Ethnic differences in riskpe rception among women at increased riskfor breast cancer. Breast Cancer Res Treat 1996;40:25-35.
-
(1996)
Breast Cancer Res Treat
, vol.40
, pp. 25-35
-
-
Hughes, C.1
Lerman, C.2
Lustbader, E.3
-
15
-
-
22244470367
-
Prevalence of BRCA mutations and founder effect in high-risk Hispanic families
-
Weitzel JN, Lagos V, Blazer KR, et al. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 2005;14:1666-71.
-
(2005)
Cancer Epidemiol Biomarkers Prev
, vol.14
, pp. 1666-1671
-
-
Weitzel, J.N.1
Lagos, V.2
Blazer, K.R.3
-
16
-
-
0343918505
-
BRCA1 mutations in women attending clinics that evaluate the riskof breast cancer
-
Couch F, DeShano ML, Blackwood A, et al. BRCA1 mutations in women attending clinics that evaluate the riskof breast cancer. N Engl J Med 1997;336:1409-15.
-
(1997)
N Engl J Med
, vol.336
, pp. 1409-1415
-
-
Couch, F.1
DeShano, M.L.2
Blackwood, A.3
-
17
-
-
0037087536
-
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals
-
Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002;20:1480-90.
-
(2002)
J Clin Oncol
, vol.20
, pp. 1480-1490
-
-
Frank, T.S.1
Deffenbaugh, A.M.2
Reid, J.E.3
-
18
-
-
0031917403
-
Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2
-
Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998;62:145-58.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 145-158
-
-
Parmigiani, G.1
Berry, D.2
Aguilar, O.3
-
19
-
-
0037083566
-
BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic
-
Shih HA, Couch FJ, Nathanson KL, et al. BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. J Clin Oncol 2002;20:994-9.
-
(2002)
J Clin Oncol
, vol.20
, pp. 994-999
-
-
Shih, H.A.1
Couch, F.J.2
Nathanson, K.L.3
-
20
-
-
85085221834
-
Detection of large rearrangement mutations in BRCA1 and BRCA2 in 528 high risk families from North America by quantitative PCR based gene dose analysis. American Society of Human Genetics
-
Toronto, Canada;
-
Judkins T, Hendrickson BC, Gonzales D, Eliason K, McCulloch J, Scholl T. Detection of large rearrangement mutations in BRCA1 and BRCA2 in 528 high risk families from North America by quantitative PCR based gene dose analysis. American Society of Human Genetics, 54th Annual Meeting. Toronto, Canada; 2004.
-
(2004)
54th Annual Meeting
-
-
Judkins, T.1
Hendrickson, B.C.2
Gonzales, D.3
Eliason, K.4
McCulloch, J.5
Scholl, T.6
-
21
-
-
0030016279
-
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
-
Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996;33:550-8.
-
(1996)
J Med Genet
, vol.33
, pp. 550-558
-
-
Yau, S.C.1
Bobrow, M.2
Mathew, C.G.3
Abbs, S.J.4
-
22
-
-
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, et al. 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 2000;60:2760-3.
-
(2000)
Cancer Res
, vol.60
, pp. 2760-2763
-
-
Charbonnier, F.1
Raux, G.2
Wang, Q.3
-
23
-
-
85085224327
-
Improved quantitative PCR-based gene dose analysis for the clinical laboratory: Assay design parameters and quality assurance metrics
-
Toronto, Canada;
-
Hendrickson BC, Judkins T, Kouzmine A, et al. Improved quantitative PCR-based gene dose analysis for the clinical laboratory: Assay design parameters and quality assurance metrics. American Society of Human Genetics 54th Annual Meeting. Toronto, Canada; 2004.
-
(2004)
American Society of Human Genetics 54th Annual Meeting
-
-
Hendrickson, B.C.1
Judkins, T.2
Kouzmine, A.3
-
24
-
-
0033361899
-
A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans
-
Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans. Am J Hum Genet 1999;64:1702-8.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1702-1708
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
FitzPatrick, D.5
-
25
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
26
-
-
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;58:271-80.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 271-280
-
-
Neuhausen, S.L.1
Mazoyer, S.2
Friedman, L.3
-
27
-
-
17344372404
-
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study
-
Neuhausen SL, Godwin AK, Gershoni-Baruch R, et al. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet 1998;62:1381-8.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1381-1388
-
-
Neuhausen, S.L.1
Godwin, A.K.2
Gershoni-Baruch, R.3
-
28
-
-
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
-
Agata S, Viel A, Puppa LD, et al. 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 Chromosomes Cancer 2006;45:791-7.
-
(2006)
Genes Chromosomes Cancer
, vol.45
, pp. 791-797
-
-
Agata, S.1
Viel, A.2
Puppa, L.D.3
-
29
-
-
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. 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 2006;168:44-9.
-
(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
-
30
-
-
33645106126
-
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
-
Woodward AM, Davis TA, Silva AG, Kirk JA , Leary JA. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 2005;42:e31.
-
(2005)
J Med Genet
, vol.42
-
-
Woodward, A.M.1
Davis, T.A.2
Silva, A.G.3
Kirk, J.A.4
Leary, J.A.5
-
31
-
-
33845528114
-
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families
-
Peixoto A, Salgueiro N, Santos C, et al. BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. Fam Cancer 2006;5:379-87.
-
(2006)
Fam Cancer
, vol.5
, pp. 379-387
-
-
Peixoto, A.1
Salgueiro, N.2
Santos, C.3
-
32
-
-
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, et al. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 1999;59:455-61.
-
(1999)
Cancer Res
, vol.59
, pp. 455-461
-
-
Puget, N.1
Stoppa-Lyonnet, D.2
Sinilnikova, O.M.3
-
33
-
-
33645728181
-
BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder
-
Makriyianni I, Hamel N, Ward S, Foulkes WD, Graw S. BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder. J Med Genet 2005;42:e207.
-
(2005)
J Med Genet
, vol.42
-
-
Makriyianni, I.1
Hamel, N.2
Ward, S.3
Foulkes, W.D.4
Graw, S.5
-
34
-
-
34548087514
-
-
Central Intelligence Agency , Retrieved January 8, 2007, from CIA World Factbookweb site
-
Central Intelligence Agency (2007). The world factbook 2006. Retrieved January 8, 2007, from CIA World Factbookweb site (https://cia.gov/cia/ publications/factbook/geos/mx.html).
-
(2007)
The world factbook 2006
-
-
-
35
-
-
0034846129
-
The genetic structure of Mexican Mestizos of different locations: Tracking back their origins through MHC genes, blood group systems, and microsatellites
-
Gorodezky C, Alaez C, Vazquez-Garcia MN, et al. The genetic structure of Mexican Mestizos of different locations: tracking back their origins through MHC genes, blood group systems, and microsatellites. Hum Immunol 2001;62:979-91.
-
(2001)
Hum Immunol
, vol.62
, pp. 979-991
-
-
Gorodezky, C.1
Alaez, C.2
Vazquez-Garcia, M.N.3
-
36
-
-
8744274341
-
The Amerindian's genes in the Mexican population are associated with development of gallstone disease
-
Mendez-Sanchez N, King-Martinez AC, Ramos MH, Pichardo-Bahena R, Uribe M. The Amerindian's genes in the Mexican population are associated with development of gallstone disease. Am J Gastroenterol 2004;99:2166-70.
-
(2004)
Am J Gastroenterol
, vol.99
, pp. 2166-2170
-
-
Mendez-Sanchez, N.1
King-Martinez, A.C.2
Ramos, M.H.3
Pichardo-Bahena, R.4
Uribe, M.5
-
37
-
-
0033941783
-
mtDNA affinities of the peoples of North-Central Mexico
-
Green LD, Derr JN, Knight A. mtDNA affinities of the peoples of North-Central Mexico. Am J Hum Genet 2000;66:989-98.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 989-998
-
-
Green, L.D.1
Derr, J.N.2
Knight, A.3
-
38
-
-
18344389032
-
Genetic admixture in three Mexican Mestizo populations based on D1S80 and HLADQA1 loci
-
Cerda-Flores RM, Villalobos-Torres MC, Barrera-Saldana HA, et al. Genetic admixture in three Mexican Mestizo populations based on D1S80 and HLADQA1 loci. Am J Hum Biol 2002;14:257-63.
-
(2002)
Am J Hum Biol
, vol.14
, pp. 257-263
-
-
Cerda-Flores, R.M.1
Villalobos-Torres, M.C.2
Barrera-Saldana, H.A.3
-
39
-
-
33750495339
-
Genetic ancestry and risk factors for breast cancer among Latinas in the San Francisco bay area
-
Ziv E, John EM, Choudhry S, et. al. Genetic ancestry and risk factors for breast cancer among Latinas in the San Francisco bay area. Cancer Epidemiol Biomakers Prev 2006;15:1878-85.
-
(2006)
Cancer Epidemiol Biomakers Prev
, vol.15
, pp. 1878-1885
-
-
Ziv, E.1
John, E.M.2
Choudhry, S.3
et., al.4
-
40
-
-
33846565039
-
Genetics admixture among Hispanics and candidate gene polymorphisms: Potential for confounding in a breast cancer study?
-
Sweeney C, Wolff RK, Byers T, et. al. Genetics admixture among Hispanics and candidate gene polymorphisms: potential for confounding in a breast cancer study? Cancer Epidemiol Biomakers Prev 2007;16:142-50.
-
(2007)
Cancer Epidemiol Biomakers Prev
, vol.16
, pp. 142-150
-
-
Sweeney, C.1
Wolff, R.K.2
Byers, T.3
et., al.4
-
41
-
-
2942756911
-
-
ACS, 8623.00. Atlanta GA, American Cancer Society;, 2005
-
ACS. Cancer Facts and Figures for Hispanics/Latinos 2003-2005, 8623.00. Atlanta (GA): American Cancer Society; 2003.
-
(2003)
Cancer Facts and Figures for Hispanics/Latinos
-
-
|