메뉴 건너뛰기




Volumn 7, Issue 5, 2012, Pages

Full-Exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BREAST CANCER; CLINICAL ARTICLE; CONTROLLED STUDY; ETHNIC GROUP; EXON; FEMALE; GENE LOCATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; INTRON; MALE; MEXICAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PYROSEQUENCING; STOP CODON; TUMOR SUPPRESSOR GENE; WOMEN'S HEALTH; BREAST; BREAST TUMOR; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MEXICO; MUTATION; OVARY; OVARY TUMOR; PEDIGREE;

EID: 84861399847     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0037432     Document Type: Article
Times cited : (34)

References (53)
  • 2
    • 4544374528 scopus 로고    scopus 로고
    • BRCA1 and BRCA2: 1994 and beyond
    • doi: 10.1038/nrc1431
    • Narod SA, Foulkes WD, (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4: 665-676 doi:10.1038/nrc1431.
    • (2004) Nat Rev Cancer , vol.4 , pp. 665-676
    • Narod, S.A.1    Foulkes, W.D.2
  • 3
    • 77952541315 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2
    • doi: 10.1097/GIM.0b013e3181d38f2f
    • Petrucelli N, Daly MB, Feldman GL, (2010) Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genetics in Medicine 12: 245-259 doi:10.1097/GIM.0b013e3181d38f2f.
    • (2010) Genetics in Medicine , vol.12 , pp. 245-259
    • Petrucelli, N.1    Daly, M.B.2    Feldman, G.L.3
  • 4
    • 33645225423 scopus 로고    scopus 로고
    • The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome
    • Medeiros F, Muto MG, Lee Y, Elvin JA, Callahan MJ, et al. (2006) The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome. Am J Surg Pathol 30: 230-236.
    • (2006) Am J Surg Pathol , vol.30 , pp. 230-236
    • Medeiros, F.1    Muto, M.G.2    Lee, Y.3    Elvin, J.A.4    Callahan, M.J.5
  • 5
    • 15744394400 scopus 로고    scopus 로고
    • BRCA1 and pancreatic cancer: pedigree findings and their causal relationships
    • doi: 10.1016/j.cancergencyto.2004.01.032
    • Lynch HT, Deters CA, Snyder CL, Lynch JF, Villeneuve P, et al. (2005) BRCA1 and pancreatic cancer: pedigree findings and their causal relationships. Cancer Genet Cytogenet 158: 119-125 doi:10.1016/j.cancergencyto.2004.01.032.
    • (2005) Cancer Genet Cytogenet , vol.158 , pp. 119-125
    • Lynch, H.T.1    Deters, C.A.2    Snyder, C.L.3    Lynch, J.F.4    Villeneuve, P.5
  • 6
    • 0037222306 scopus 로고    scopus 로고
    • Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene
    • Edwards SM, Kote-Jarai Z, Meitz J, Hamoudi R, Hope Q, et al. (2003) Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 72: 1-12.
    • (2003) Am J Hum Genet , vol.72 , pp. 1-12
    • Edwards, S.M.1    Kote-Jarai, Z.2    Meitz, J.3    Hamoudi, R.4    Hope, Q.5
  • 7
    • 78650078754 scopus 로고    scopus 로고
    • Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer
    • Pruthi S, Gostout BS, Lindor NM, (2010) Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer. Mayo Clinic Proceedings 85: 1111-1120.
    • (2010) Mayo Clinic Proceedings , vol.85 , pp. 1111-1120
    • Pruthi, S.1    Gostout, B.S.2    Lindor, N.M.3
  • 8
    • 79551643321 scopus 로고    scopus 로고
    • Hereditary breast cancer: clinical features and risk reduction strategies
    • doi: 10.1093/annonc/mdq663
    • Paradiso A, Formenti S, (2011) Hereditary breast cancer: clinical features and risk reduction strategies. Annals of Oncology 22: i31-i36 doi:10.1093/annonc/mdq663.
    • (2011) Annals of Oncology , vol.22
    • Paradiso, A.1    Formenti, S.2
  • 9
    • 79959587205 scopus 로고    scopus 로고
    • Clinical management of hereditary breast cancer syndromes
    • doi: 10.1007/s10911-011-9200-x
    • Clark AS, Domchek SM, (2011) Clinical management of hereditary breast cancer syndromes. J Mammary Gland Biol Neoplasia 16: 17-25 doi:10.1007/s10911-011-9200-x.
    • (2011) J Mammary Gland Biol Neoplasia , vol.16 , pp. 17-25
    • Clark, A.S.1    Domchek, S.M.2
  • 10
    • 34249717959 scopus 로고    scopus 로고
    • Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review
    • doi: 10.1038/sj.ejhg.5201806
    • Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D, (2007) Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. Eur J Hum Genet 15: 619-627 doi:10.1038/sj.ejhg.5201806.
    • (2007) Eur J Hum Genet , vol.15 , pp. 619-627
    • Gerhardus, A.1    Schleberger, H.2    Schlegelberger, B.3    Gadzicki, D.4
  • 11
    • 82955248030 scopus 로고    scopus 로고
    • Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling
    • doi: 10.1097/GIM.0b013e31822a8113
    • Wang G, Beattie MS, Ponce NA, Phillips KA, (2011) Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling. Genetics in Medicine 13: 1045-1050 doi:10.1097/GIM.0b013e31822a8113.
    • (2011) Genetics in Medicine , vol.13 , pp. 1045-1050
    • Wang, G.1    Beattie, M.S.2    Ponce, N.A.3    Phillips, K.A.4
  • 12
    • 79951805438 scopus 로고    scopus 로고
    • 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, et al. (2011) Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat 32 (3): 335-344.
    • (2011) Hum Mutat , vol.32 , Issue.3 , pp. 335-344
    • de Leeneer, K.1    Hellemans, J.2    de Schrijver, J.3    Baetens, M.4    Poppe, B.5
  • 14
    • 80053052971 scopus 로고    scopus 로고
    • Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
    • Théry J, Krieger S, Gaildrat P, Révillion F, (2011) Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. Eur J Hum Genet. 19 (10): 1052-1058.
    • (2011) Eur J Hum Genet , vol.19 , Issue.10 , pp. 1052-1058
    • Théry, J.1    Krieger, S.2    Gaildrat, P.3    Révillion, F.4
  • 15
    • 0029125296 scopus 로고
    • Inherited breast and ovarian cancer
    • Szabo CI, King M-C, (1995) Inherited breast and ovarian cancer. Hum Mol Genet 4 Spec No pp. 1811-1817.
    • (1995) Hum Mol Genet , vol.4 , pp. 1811-1817
    • Szabo, C.I.1    King, M.-C.2
  • 16
    • 0028843102 scopus 로고
    • Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
    • Easton DF, Ford D, Bishop DT, (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56: 265-271.
    • (1995) Am J Hum Genet , vol.56 , pp. 265-271
    • Easton, D.F.1    Ford, D.2    Bishop, D.T.3
  • 17
    • 34248170114 scopus 로고    scopus 로고
    • Meta-analysis of BRCA1 and BRCA2 penetrance
    • doi: 10.1200/JCO.2006.09.1066
    • Chen S, Parmigiani G, (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of Clinical Oncology 25: 1329-1333 doi:10.1200/JCO.2006.09.1066.
    • (2007) Journal of Clinical Oncology , vol.25 , pp. 1329-1333
    • Chen, S.1    Parmigiani, G.2
  • 18
    • 77449112281 scopus 로고    scopus 로고
    • Preventing future cancers by testing women with ovarian cancer for BRCA mutations
    • doi: 10.1200/JCO.2008.21.4684
    • Kwon JS, Daniels MS, Sun CC, Lu KH, (2010) Preventing future cancers by testing women with ovarian cancer for BRCA mutations. Journal of Clinical Oncology 28: 675-682 doi:10.1200/JCO.2008.21.4684.
    • (2010) Journal of Clinical Oncology , vol.28 , pp. 675-682
    • Kwon, J.S.1    Daniels, M.S.2    Sun, C.C.3    Lu, K.H.4
  • 19
    • 78649662629 scopus 로고    scopus 로고
    • The role of BRCA mutation testing in determining breast cancer therapy
    • doi: 10.1038/nrclinonc.2010.175
    • Trainer AH, Lewis CR, Tucker K, Meiser B, Friedlander M, et al. (2010) The role of BRCA mutation testing in determining breast cancer therapy. Nature Publishing Group 7: 708-717 doi:10.1038/nrclinonc.2010.175.
    • (2010) Nature Publishing Group , vol.7 , pp. 708-717
    • Trainer, A.H.1    Lewis, C.R.2    Tucker, K.3    Meiser, B.4    Friedlander, M.5
  • 20
    • 77955019276 scopus 로고    scopus 로고
    • Oral poly (ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial
    • Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, et al. (2010) Oral poly (ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 376: 235-244.
    • (2010) Lancet , vol.376 , pp. 235-244
    • Tutt, A.1    Robson, M.2    Garber, J.E.3    Domchek, S.M.4    Audeh, M.W.5
  • 21
    • 35748929114 scopus 로고    scopus 로고
    • Founder mutations in BRCA1 and BRCA2 genes
    • doi: 10.1093/annonc/mdm234
    • Ferla R, Calò V, Cascio S, Rinaldi G, Badalamenti G, et al. (2007) Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 18 (Suppl 6): vi93-8 doi:10.1093/annonc/mdm234.
    • (2007) Ann Oncol , vol.18 , Issue.SUPPL. 6
    • Ferla, R.1    Calò, V.2    Cascio, S.3    Rinaldi, G.4    Badalamenti, G.5
  • 22
    • 67149099839 scopus 로고    scopus 로고
    • A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencing
    • doi: 10.2353/jmoldx.2009.080137
    • Zhang L, Kirchhoff T, Yee CJ, Offit K, (2009) A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencing. J Mol Diagn 11: 176-181 doi:10.2353/jmoldx.2009.080137.
    • (2009) J Mol Diagn , vol.11 , pp. 176-181
    • Zhang, L.1    Kirchhoff, T.2    Yee, C.J.3    Offit, K.4
  • 23
    • 18544397294 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico
    • doi: 10.1002/humu.9084
    • Ruiz-Flores P, Sinilnikova OM, Badzioch M, Calderon-Garcidueñas AL, Chopin S, et al. (2002) BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Hum Mutat 20: 474-475 doi:10.1002/humu.9084.
    • (2002) Hum Mutat , vol.20 , pp. 474-475
    • Ruiz-Flores, P.1    Sinilnikova, O.M.2    Badzioch, M.3    Calderon-Garcidueñas, A.L.4    Chopin, S.5
  • 25
    • 80054960864 scopus 로고    scopus 로고
    • Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness
    • doi: 10.1186/bcr3049
    • Lips EH, Laddach N, Savola SP, Vollebergh MA, Oonk AM, et al. (2011) Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness. Breast Cancer Res 13: R107 doi:10.1186/bcr3049.
    • (2011) Breast Cancer Res , vol.13
    • Lips, E.H.1    Laddach, N.2    Savola, S.P.3    Vollebergh, M.A.4    Oonk, A.M.5
  • 26
    • 34249088685 scopus 로고    scopus 로고
    • BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study
    • doi: 10.1016/j.breast.2006.12.003
    • Musolino A, Bella MA, Bortesi B, Michiara M, Naldi N, et al. (2007) BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study. Breast 16: 280-292 doi:10.1016/j.breast.2006.12.003.
    • (2007) Breast , vol.16 , pp. 280-292
    • Musolino, A.1    Bella, M.A.2    Bortesi, B.3    Michiara, M.4    Naldi, N.5
  • 27
    • 0041592486 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study
    • doi: 10.1002/ijc.11271
    • de Sanjosé S, Léoné M, Bérez V, Izquierdo A, Font R, et al. (2003) Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer 106: 588-593 doi:10.1002/ijc.11271.
    • (2003) Int J Cancer , vol.106 , pp. 588-593
    • de Sanjosé, S.1    Léoné, M.2    Bérez, V.3    Izquierdo, A.4    Font, R.5
  • 28
    • 34447298637 scopus 로고    scopus 로고
    • Genetic epidemiology of BRCA mutations-family history detects less than 50% of the mutation carriers
    • Møller P, Hagen AI, Apold J, Maehle L, Clark N, et al. (2007) Genetic epidemiology of BRCA mutations-family history detects less than 50% of the mutation carriers. Eur J Cancer 43: 1713-1717.
    • (2007) Eur J Cancer , vol.43 , pp. 1713-1717
    • Møller, P.1    Hagen, A.I.2    Apold, J.3    Maehle, L.4    Clark, N.5
  • 29
    • 0035125062 scopus 로고    scopus 로고
    • Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
    • doi: 10.1086/318181 Breast Cancer Linkage Consortium
    • Thompson D, Easton D, Breast Cancer Linkage Consortium, (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68: 410-419 doi:10.1086/318181.
    • (2001) Am J Hum Genet , vol.68 , pp. 410-419
    • Thompson, D.1    Easton, D.2
  • 30
    • 82255186364 scopus 로고    scopus 로고
    • Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO)
    • doi: 10.1007/s10549-011-1655-3
    • Lecarpentier J, Noguès C, Mouret-Fourme E, Stoppa-Lyonnet D, Lasset C, et al. (2011) Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO). Breast Cancer Res Treat 130: 927-938 doi:10.1007/s10549-011-1655-3.
    • (2011) Breast Cancer Res Treat , vol.130 , pp. 927-938
    • Lecarpentier, J.1    Noguès, C.2    Mouret-Fourme, E.3    Stoppa-Lyonnet, D.4    Lasset, C.5
  • 31
    • 72449127102 scopus 로고    scopus 로고
    • Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
    • doi: 10.1007/s10549-009-0394-1
    • Milne RL, Osorio A, Ramón y Cajal T, Baiget M, Lasa A, et al. (2010) Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 119: 221-232 doi:10.1007/s10549-009-0394-1.
    • (2010) Breast Cancer Res Treat , vol.119 , pp. 221-232
    • Milne, R.L.1    Osorio, A.2    Ramón y Cajal, T.3    Baiget, M.4    Lasa, A.5
  • 32
    • 33746928252 scopus 로고    scopus 로고
    • Diet, lifestyle and BRCA-related breast cancer risk among French-Canadians
    • doi: 10.1007/s10549-006-9161-8
    • Nkondjock A, Robidoux A, Paredes Y, Narod SA, Ghadirian P, (2006) Diet, lifestyle and BRCA-related breast cancer risk among French-Canadians. Breast Cancer Res Treat 98: 285-294 doi:10.1007/s10549-006-9161-8.
    • (2006) Breast Cancer Res Treat , vol.98 , pp. 285-294
    • Nkondjock, A.1    Robidoux, A.2    Paredes, Y.3    Narod, S.A.4    Ghadirian, P.5
  • 33
    • 79956044149 scopus 로고    scopus 로고
    • Accuracy and quality assessment of 454 GS-FLX Titanium pyrosequencing
    • doi: 10.1186/1471-2164-12-245
    • Gilles A, Meglécz E, Pech N, Ferreira S, Malausa T, et al. (2011) Accuracy and quality assessment of 454 GS-FLX Titanium pyrosequencing. BMC Genomics 12: 245 doi:10.1186/1471-2164-12-245.
    • (2011) BMC Genomics , vol.12 , pp. 245
    • Gilles, A.1    Meglécz, E.2    Pech, N.3    Ferreira, S.4    Malausa, T.5
  • 34
    • 17144439453 scopus 로고    scopus 로고
    • Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method
    • Hofmann W, Görgens H, John A, Horn D, Hüttner C, et al. (2003) Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method. Hum Mutat 22: 103-104.
    • (2003) Hum Mutat , vol.22 , pp. 103-104
    • Hofmann, W.1    Görgens, H.2    John, A.3    Horn, D.4    Hüttner, C.5
  • 35
    • 0038364017 scopus 로고    scopus 로고
    • 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, 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.
    • (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
  • 36
    • 69949110747 scopus 로고    scopus 로고
    • Genomic rearrangements in BRCA1 and BRCA2: A literature review
    • doi: 10.1590/S1415-47572009005000049
    • Ewald IP, Ribeiro PLI, Palmero EI, Cossio SL, Giugliani R, et al. (2009) Genomic rearrangements in BRCA1 and BRCA2: A literature review. Genet Mol Biol 32: 437-446 doi:10.1590/S1415-47572009005000049.
    • (2009) Genet Mol Biol , vol.32 , pp. 437-446
    • Ewald, I.P.1    Ribeiro, P.L.I.2    Palmero, E.I.3    Cossio, S.L.4    Giugliani, R.5
  • 37
    • 70249138056 scopus 로고    scopus 로고
    • Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden
    • doi: 10.2353/jmoldx.2009.090032
    • De Leeneer K, Coene I, Poppe B, De Paepe A, Claes K, (2009) Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden. J Mol Diagn 11: 415-419 doi:10.2353/jmoldx.2009.090032.
    • (2009) J Mol Diagn , vol.11 , pp. 415-419
    • de Leeneer, K.1    Coene, I.2    Poppe, B.3    de Paepe, A.4    Claes, K.5
  • 38
    • 84857918420 scopus 로고    scopus 로고
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
    • doi: 10.1007/s10549-011-1842-2
    • Blanco A, la Hoya de M, Balmaña J, Ramón y Cajal T, Teulé A, et al. (2011) Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer. Breast Cancer Res Treat doi:10.1007/s10549-011-1842-2.
    • (2011) Breast Cancer Res Treat
    • Blanco, A.1    de la Hoya, M.2    Balmaña, J.3    Ramón y Cajal, T.4    Teulé, A.5
  • 39
    • 82455220239 scopus 로고    scopus 로고
    • Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations
    • doi: 10.1007/s10549-011-1548-5
    • Manoukian S, Peissel B, Frigerio S, Lecis D, Bartkova J, et al. (2011) Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations. Breast Cancer Res Treat 130: 207-215 doi:10.1007/s10549-011-1548-5.
    • (2011) Breast Cancer Res Treat , vol.130 , pp. 207-215
    • Manoukian, S.1    Peissel, B.2    Frigerio, S.3    Lecis, D.4    Bartkova, J.5
  • 40
    • 77951720395 scopus 로고    scopus 로고
    • Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    • doi: 10.1038/ng.569
    • Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, et al. (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42: 410-414 doi:10.1038/ng.569.
    • (2010) Nat Genet , vol.42 , pp. 410-414
    • Meindl, A.1    Hellebrand, H.2    Wiek, C.3    Erven, V.4    Wappenschmidt, B.5
  • 41
    • 82255186379 scopus 로고    scopus 로고
    • Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility
    • doi: 10.1007/s10549-011-1677-x
    • Vuorela M, Pylkäs K, Hartikainen JM, Sundfeldt K, Lindblom A, et al. (2011) Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. Breast Cancer Res Treat 130: 1003-1010 doi:10.1007/s10549-011-1677-x.
    • (2011) Breast Cancer Res Treat , vol.130 , pp. 1003-1010
    • Vuorela, M.1    Pylkäs, K.2    Hartikainen, J.M.3    Sundfeldt, K.4    Lindblom, A.5
  • 42
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • doi: 10.1038/83762
    • Liu HX, Cartegni L, Zhang MQ, Krainer AR, (2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 27: 55-58 doi:10.1038/83762.
    • (2001) Nat Genet , vol.27 , pp. 55-58
    • Liu, H.X.1    Cartegni, L.2    Zhang, M.Q.3    Krainer, A.R.4
  • 43
    • 33847314487 scopus 로고    scopus 로고
    • Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis
    • doi: 10.1158/0008-5472.CAN-06-3297
    • Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, et al. (2007) Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res 67: 1494-1501 doi:10.1158/0008-5472.CAN-06-3297.
    • (2007) Cancer Res , vol.67 , pp. 1494-1501
    • Carvalho, M.A.1    Marsillac, S.M.2    Karchin, R.3    Manoukian, S.4    Grist, S.5
  • 44
    • 45749087347 scopus 로고    scopus 로고
    • Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach
    • doi: 10.1038/ejhg.2008.13
    • Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, et al. (2008) Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Eur J Hum Genet 16: 820-832 doi:10.1038/ejhg.2008.13.
    • (2008) Eur J Hum Genet , vol.16 , pp. 820-832
    • Tischkowitz, M.1    Hamel, N.2    Carvalho, M.A.3    Birrane, G.4    Soni, A.5
  • 45
    • 33845899137 scopus 로고    scopus 로고
    • Human Catechol-O-Methyltransferase Haplotypes Modulate Protein Expression by Altering mRNA Secondary Structure
    • doi: 10.1126/science.1131262
    • Nackley AG, Shabalina SA, Tchivileva IE, Satterfield K, Korchynskyi O, et al. (2006) Human Catechol-O-Methyltransferase Haplotypes Modulate Protein Expression by Altering mRNA Secondary Structure. Science 314: 1930-1933 doi:10.1126/science.1131262.
    • (2006) Science , vol.314 , pp. 1930-1933
    • Nackley, A.G.1    Shabalina, S.A.2    Tchivileva, I.E.3    Satterfield, K.4    Korchynskyi, O.5
  • 46
    • 0037320652 scopus 로고    scopus 로고
    • Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor
    • doi: 10.1093/hmg/ddg055
    • Duan J, (2003) Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12: 205-216 doi:10.1093/hmg/ddg055.
    • (2003) Hum Mol Genet , vol.12 , pp. 205-216
    • Duan, J.1
  • 47
    • 0036724556 scopus 로고    scopus 로고
    • Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan
    • Liede A, Malik IA, Aziz Z, Rios Pd P de L, Kwan E, et al. (2002) Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. Am J Hum Genet 71: 595-606.
    • (2002) Am J Hum Genet , vol.71 , pp. 595-606
    • Liede, A.1    Malik, I.A.2    Aziz, Z.3    de Rios, P.L.4    Kwan, E.5
  • 48
    • 4644325780 scopus 로고    scopus 로고
    • Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families
    • Evans DGR, Neuhausen SL, Bulman M, Young K, Gokhale D, et al. (2004) Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families. Journal of Medical Genetics 41: e21.
    • (2004) Journal of Medical Genetics , vol.41
    • Evans, D.G.R.1    Neuhausen, S.L.2    Bulman, M.3    Young, K.4    Gokhale, D.5
  • 49
    • 33750591960 scopus 로고    scopus 로고
    • Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India
    • doi: 10.1186/1471-2350-7-75
    • Saxena S, Chakraborty A, Kaushal M, Kotwal S, Bhatanager D, et al. (2006) Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet 7: 75 doi:10.1186/1471-2350-7-75.
    • (2006) BMC Med Genet , vol.7 , pp. 75
    • Saxena, S.1    Chakraborty, A.2    Kaushal, M.3    Kotwal, S.4    Bhatanager, D.5
  • 50
    • 32244439893 scopus 로고    scopus 로고
    • BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain
    • doi: 10.1016/j.canlet.2005.03.006
    • Salazar R, Cruz-Hernandez JJ, Sanchez-Valdivieso E, Rodriguez CA, Gomez-Bernal A, et al. (2006) BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain. Cancer Letters 233: 172-177 doi:10.1016/j.canlet.2005.03.006.
    • (2006) Cancer Letters , vol.233 , pp. 172-177
    • Salazar, R.1    Cruz-Hernandez, J.J.2    Sanchez-Valdivieso, E.3    Rodriguez, C.A.4    Gomez-Bernal, A.5
  • 51
    • 33847259648 scopus 로고    scopus 로고
    • Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
    • doi: 10.1136/jmg.2006.044388
    • Simard J, Dumont M, Moisan A-M, Gaborieau V, Malouin H, et al. (2007) Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. Journal of Medical Genetics 44: 107-121 doi:10.1136/jmg.2006.044388.
    • (2007) Journal of Medical Genetics , vol.44 , pp. 107-121
    • Simard, J.1    Dumont, M.2    Moisan, A.-M.3    Gaborieau, V.4    Malouin, H.5
  • 52
    • 77149138300 scopus 로고    scopus 로고
    • Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study
    • doi: 10.1002/humu.21202
    • Borg A, Haile RW, Malone KE, Capanu M, Diep A, et al. (2010) Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Hum Mutat 31: E1200-40 doi:10.1002/humu.21202.
    • (2010) Hum Mutat , vol.31
    • Borg, A.1    Haile, R.W.2    Malone, K.E.3    Capanu, M.4    Diep, A.5
  • 53
    • 0030577157 scopus 로고    scopus 로고
    • Characterization of the BRCA1 gene and its significance in hereditary breast cancer
    • Díez Gilbert O, Machuca Cordano I, Angel Navarro M, (1996) [Characterization of the BRCA1 gene and its significance in hereditary breast cancer]. Med Clin (Barc) 107: 623-627.
    • (1996) Med Clin (Barc) , vol.107 , pp. 623-627
    • Díez Gilbert, O.1    Machuca Cordano, I.2    Angel Navarro, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.