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Volumn 21, Issue 7, 2016, Pages 832-839

Founder and recurrent mutations in BRCA1 and BRCA2 genes in Latin American Countries: State of the art and literature review

Author keywords

BRCA1; BRCA2; Breast cancer; Hereditary cancer; Hispanics; Latin America

Indexed keywords

BRCA2 GENE; BREAST CANCER; CHILE; COLOMBIA; DENATURING GRADIENT GEL ELECTROPHORESIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; GENE; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; MEXICO; OVARY CANCER; PERU; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SCREENING TEST; SOUTH AND CENTRAL AMERICA; TUMOR SUPPRESSOR GENE; URUGUAY; VENEZUELA; HISPANIC; HUMAN; MUTATION;

EID: 84978488585     PISSN: 10837159     EISSN: 1549490X     Source Type: Journal    
DOI: 10.1634/theoncologist.2015-0416     Document Type: Review
Times cited : (72)

References (57)
  • 1
    • 35748929114 scopus 로고    scopus 로고
    • Founder mutations in BRCA1 and BRCA2 genes
    • Ferla R, Calò V, Cascio S et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 2007;18 (suppl 6): vi93-vi98.
    • (2007) Ann Oncol , vol.18 , pp. vi93-vi98
    • Ferla, R.1    Calò, V.2    Cascio, S.3
  • 2
    • 36448996703 scopus 로고    scopus 로고
    • Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    • Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 2007;7: 937-948.
    • (2007) Nat Rev Cancer , vol.7 , pp. 937-948
    • Fackenthal, J.D.1    Olopade, O.I.2
  • 3
    • 84880115555 scopus 로고    scopus 로고
    • In brief: BRCA1 and BRCA2
    • Foulkes WD, Shuen AY. In brief: BRCA1 and BRCA2. J Pathol 2013;230: 347-349.
    • (2013) J Pathol , vol.230 , pp. 347-349
    • Foulkes, W.D.1    Shuen, A.Y.2
  • 4
    • 84890131723 scopus 로고    scopus 로고
    • BRCA1 and BRCA2-update and implications on the genetics of breast cancer: A clinical perspective
    • Foulkes WD. BRCA1 and BRCA2-update and implications on the genetics of breast cancer: a clinical perspective. Clin Genet 2014;85: 1-4.
    • (2014) Clin Genet , vol.85 , pp. 1-4
    • Foulkes, W.D.1
  • 5
    • 84858814526 scopus 로고    scopus 로고
    • Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: Update on genetic modifiers
    • Barnes DR, Antoniou AC. Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: Update on genetic modifiers. J InternMed 2012;271: 331-343.
    • (2012) J InternMed , vol.271 , pp. 331-343
    • Barnes, D.R.1    Antoniou, A.C.2
  • 6
    • 84872579612 scopus 로고    scopus 로고
    • Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: A report from the Clinical Cancer Genetics Community Research Network
    • Weitzel JN, Clague J, Martir-Negron A et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: A report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol 2013;31: 210-216.
    • (2013) J Clin Oncol , vol.31 , pp. 210-216
    • Weitzel, J.N.1    Clague, J.2    Martir-Negron, A.3
  • 7
    • 0642367442 scopus 로고    scopus 로고
    • Cancer incidence in relatives of a population-based set of cases of early-onset breast cancer with a known BRCA1 and BRCA2 mutation status
    • Loman N, Bladström A, Johannsson O et al. Cancer incidence in relatives of a population-based set of cases of early-onset breast cancer with a known BRCA1 and BRCA2 mutation status. Breast Cancer Res 2003;5: R175-R186.
    • (2003) Breast Cancer Res , vol.5 , pp. R175-R186
    • Loman, N.1    Bladström, A.2    Johannsson, O.3
  • 8
    • 77951206427 scopus 로고    scopus 로고
    • Triplenegative breast cancer: Molecular features, pathogenesis, treatment and current lines of research
    • Bosch A, Eroles P, Zaragoza R et al. Triplenegative breast cancer: Molecular features, pathogenesis, treatment and current lines of research. Cancer Treat Rev 2010;36: 206-215.
    • (2010) Cancer Treat Rev , vol.36 , pp. 206-215
    • Bosch, A.1    Eroles, P.2    Zaragoza, R.3
  • 9
    • 84884539933 scopus 로고    scopus 로고
    • Triple-negative breast cancer and the need for new therapeutic targets
    • Engebraaten O, Vollan HK, Børresen-Dale AL. Triple-negative breast cancer and the need for new therapeutic targets. AmJ Pathol 2013;183: 1064-1074.
    • (2013) AmJ Pathol , vol.183 , pp. 1064-1074
    • Engebraaten, O.1    Vollan, H.K.2    Børresen-Dale, A.L.3
  • 10
    • 79953086387 scopus 로고    scopus 로고
    • Founder BRCA1/2 mutations in the Europe: Implications for hereditary breastovarian cancer prevention and control
    • Janavičius R. Founder BRCA1/2 mutations in the Europe: Implications for hereditary breastovarian cancer prevention and control. EPMA J 2010;1: 397-412.
    • (2010) EPMA J , vol.1 , pp. 397-412
    • Janavičius, R.1
  • 11
    • 84873519343 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 analysis of Argentinean breast/ ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative South-American origin
    • Solano AR, Aceto GM, Delettieres D et al. BRCA1 and BRCA2 analysis of Argentinean breast/ ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative South-American origin. Springerplus 2012; 1: 20.
    • (2012) Springerplus , vol.1 , pp. 20
    • Solano, A.R.1    Aceto, G.M.2    Delettieres, D.3
  • 12
    • 34249040579 scopus 로고    scopus 로고
    • Highproportion of BRCA1/2 founder mutations in Hispanic breast/ ovarian cancer families from Colombia
    • Torres D, RashidMU,Gil F et al. Highproportion of BRCA1/2 founder mutations in Hispanic breast/ ovarian cancer families from Colombia. Breast Cancer Res Treat 2007;103: 225-232.
    • (2007) Breast Cancer Res Treat , vol.103 , pp. 225-232
    • Torres, D.1    Rashid, M.U.2    Gil, F.3
  • 13
    • 44949118602 scopus 로고    scopus 로고
    • Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome
    • da Costa ECB, Vargas FR, Moreira AS et al. Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome. Cancer Genet Cytogenet 2008; 184: 62-66.
    • (2008) Cancer Genet Cytogenet , vol.184 , pp. 62-66
    • da Costa, E.C.B.1    Vargas, F.R.2    Moreira, A.S.3
  • 14
    • 34250664312 scopus 로고    scopus 로고
    • Prevalence ofBRCA1 and BRCA2mutations in breast cancer patients from Brazil
    • Gomes MC, Costa MM, Borojevic R et al. Prevalence ofBRCA1 and BRCA2mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 2007;103: 349-353.
    • (2007) Breast Cancer Res Treat , vol.103 , pp. 349-353
    • Gomes, M.C.1    Costa, M.M.2    Borojevic, R.3
  • 15
    • 34249932412 scopus 로고    scopus 로고
    • Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes
    • Machado PM, Brandão RD, Cavaco BM et al. 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 2007;25: 2027-2034.
    • (2007) J Clin Oncol , vol.25 , pp. 2027-2034
    • Machado, P.M.1    Brandão, R.D.2    Cavaco, B.M.3
  • 16
    • 84901670506 scopus 로고    scopus 로고
    • Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
    • Ashton-Prolla P, Vargas FR. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genet Mol Biol 2014;37 (suppl): 234-240.
    • (2014) Genet Mol Biol , vol.37 , pp. 234-240
    • Ashton-Prolla, P.1    Vargas, F.R.2
  • 17
    • 68249160900 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil
    • Esteves VF, Thuler LC, Amêndola LC et al; Brazilian Network of Breast and Ovarian Familial Cancer Aggregation. Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil. Braz J Med Biol Res 2009;42: 453-457.
    • (2009) Braz J Med Biol Res , vol.42 , pp. 453-457
    • Esteves, V.F.1    Thuler, L.C.2    Amêndola, L.C.3
  • 18
    • 84948387036 scopus 로고    scopus 로고
    • Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: Characterizing a northeast Brazilian population
    • Felix GES, Abe-Sandes C, Machado-Lopes TMB et al. Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: Characterizing a northeast Brazilian population. Hum Genome Var 2014;1: 14012.
    • (2014) Hum Genome Var , vol.1 , pp. 14012
    • Felix, G.E.S.1    Abe-Sandes, C.2    Machado-Lopes, T.M.B.3
  • 19
    • 33646492478 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in a South American population
    • Jara L, Ampuero S, Santibáñez E et al. BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet 2006;166: 36-45.
    • (2006) Cancer Genet Cytogenet , vol.166 , pp. 36-45
    • Jara, L.1    Ampuero, S.2    Santibáñez, E.3
  • 20
    • 32444447811 scopus 로고    scopus 로고
    • Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations
    • Gallardo M, Silva A, Rubio L et al. Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat 2006;95: 81-87.
    • (2006) Breast Cancer Res Treat , vol.95 , pp. 81-87
    • Gallardo, M.1    Silva, A.2    Rubio, L.3
  • 21
    • 84899478727 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia
    • Hernández JE, Llacuachaqui M, Palacio GV et al. Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia. Hered Cancer Clin Pract 2014;12: 11.
    • (2014) Hered Cancer Clin Pract , vol.12 , pp. 11
    • Hernández, J.E.1    Llacuachaqui, M.2    Palacio, G.V.3
  • 22
    • 84856018003 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia
    • Rodríguez AO, Llacuachaqui M, Pardo GG et al. BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. Gynecol Oncol 2012;124: 236-243.
    • (2012) Gynecol Oncol , vol.124 , pp. 236-243
    • Rodríguez, A.O.1    Llacuachaqui, M.2    Pardo, G.G.3
  • 23
    • 84861407375 scopus 로고    scopus 로고
    • BRCA1 and BRCA2mutations among familial breast cancer patients from Costa Rica
    • Gutiérrez Espeleta GA, Llacuachaqui M, García-Jiménez L et al. BRCA1 and BRCA2mutations among familial breast cancer patients from Costa Rica. Clin Genet 2012;82: 484-488.
    • (2012) Clin Genet , vol.82 , pp. 484-488
    • Gutiérrez Espeleta, G.A.1    Llacuachaqui, M.2    García-Jiménez, L.3
  • 24
    • 48349145301 scopus 로고    scopus 로고
    • Prevalence ofBRCA1 and BRCA2mutations in breast cancer patients from Cuba
    • Rodriguez RC, Esperon AA, Ropero R et al. Prevalence ofBRCA1 and BRCA2mutations in breast cancer patients from Cuba. Fam Cancer 2008;7: 275-279.
    • (2008) Fam Cancer , vol.7 , pp. 275-279
    • Rodriguez, R.C.1    Esperon, A.A.2    Ropero, R.3
  • 25
    • 84921503732 scopus 로고    scopus 로고
    • Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico
    • Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C et al. Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer 2015;121: 372-378.
    • (2015) Cancer , vol.121 , pp. 372-378
    • Villarreal-Garza, C.1    Alvarez-Gómez, R.M.2    Pérez-Plasencia, C.3
  • 27
    • 84861399847 scopus 로고    scopus 로고
    • Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer
    • Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V et al. Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer. PLoS One 2012;7: e37432.
    • (2012) PLoS One , vol.7
    • Vaca-Paniagua, F.1    Alvarez-Gomez, R.M.2    Fragoso-Ontiveros, V.3
  • 28
    • 84941631312 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru
    • Abugattas J, Llacuachaqui M, Allende YS et al. Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. Clin Genet 2015;88: 371-375.
    • (2015) Clin Genet , vol.88 , pp. 371-375
    • Abugattas, J.1    Llacuachaqui, M.2    Allende, Y.S.3
  • 29
    • 65649112508 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer
    • Hall MJ, Reid JE, Burbidge LA et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer 2009;115: 2222-2233.
    • (2009) Cancer , vol.115 , pp. 2222-2233
    • Hall, M.J.1    Reid, J.E.2    Burbidge, L.A.3
  • 30
    • 78650970551 scopus 로고    scopus 로고
    • A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas
    • Donenberg T, Lunn J, Curling D et al. A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat 2011;125: 591-596.
    • (2011) Breast Cancer Res Treat , vol.125 , pp. 591-596
    • Donenberg, T.1    Lunn, J.2    Curling, D.3
  • 31
    • 79959268485 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germlinemutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants
    • Delgado L, Fernández G, GrotiuzGet al. BRCA1 and BRCA2 germlinemutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Res Treat 2011;128: 211-218.
    • (2011) Breast Cancer Res Treat , vol.128 , pp. 211-218
    • Delgado, L.1    Fernández, G.2    Grotiuz, G.3
  • 32
    • 84866135226 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela
    • Lara K, Consigliere N, Pérez J et al. BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Biol Res 2012;45: 117-130.
    • (2012) Biol Res , vol.45 , pp. 117-130
    • Lara, K.1    Consigliere, N.2    Pérez, J.3
  • 33
    • 77952324523 scopus 로고    scopus 로고
    • Genome-wide patterns of population structure and admixture among Hispanic/Latino populations
    • Bryc K, Velez C, Karafet T et al. Genome-wide patterns of population structure and admixture among Hispanic/Latino populations. Proc Natl Acad Sci USA 2010;107(suppl 2): 8954-8961.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 8954-8961
    • Bryc, K.1    Velez, C.2    Karafet, T.3
  • 34
    • 0034143970 scopus 로고    scopus 로고
    • Admixture studies in Latin America: From the 20th to the 21st century
    • Sans M. Admixture studies in Latin America: From the 20th to the 21st century. Hum Biol 2000; 72: 155-177.
    • (2000) Hum Biol , vol.72 , pp. 155-177
    • Sans, M.1
  • 35
    • 41949133594 scopus 로고    scopus 로고
    • Geographic patterns of genome admixture in Latin American Mestizos
    • Wang S, Ray N, Rojas W et al. Geographic patterns of genome admixture in Latin American Mestizos. PLoS Genet 2008;4: e1000037.
    • (2008) PLoS Genet , vol.4
    • Wang, S.1    Ray, N.2    Rojas, W.3
  • 36
    • 77950815407 scopus 로고    scopus 로고
    • European ancestry is positively associated with breast cancer risk in Mexican women
    • Fejerman L, Romieu I, John EM et al. European ancestry is positively associated with breast cancer risk in Mexican women. Cancer Epidemiol Biomarkers Prev 2010;19: 1074-1082.
    • (2010) Cancer Epidemiol Biomarkers Prev , vol.19 , pp. 1074-1082
    • Fejerman, L.1    Romieu, I.2    John, E.M.3
  • 38
    • 78649663174 scopus 로고    scopus 로고
    • BRCAmutations in themanagement of breast cancer: The state of the art
    • Narod SA. BRCAmutations in themanagement of breast cancer: The state of the art. Nat Rev Clin Oncol 2010;7: 702-707.
    • (2010) Nat Rev Clin Oncol , vol.7 , pp. 702-707
    • Narod, S.A.1
  • 39
    • 0037087536 scopus 로고    scopus 로고
    • 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: 1480-1490.
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 40
    • 0032980465 scopus 로고    scopus 로고
    • Frequency of BRCA1 mutation 5382insC in German breast cancer patients
    • Backe J, Hofferbert S, Skawran B et al. Frequency of BRCA1 mutation 5382insC in German breast cancer patients. Gynecol Oncol 1999;72: 402-406.
    • (1999) Gynecol Oncol , vol.72 , pp. 402-406
    • Backe, J.1    Hofferbert, S.2    Skawran, B.3
  • 41
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    • Roa BB, Boyd AA, Volcik K et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14: 185-187.
    • (1996) Nat Genet , vol.14 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Volcik, K.3
  • 42
    • 0142091570 scopus 로고    scopus 로고
    • The Norwegian founder mutations in BRCA1: High penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer
    • Heimdal K, Maehle L, Apold J et al. The Norwegian founder mutations in BRCA1: High penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer. Eur J Cancer 2003;39: 2205-2213.
    • (2003) Eur J Cancer , vol.39 , pp. 2205-2213
    • Heimdal, K.1    Maehle, L.2    Apold, J.3
  • 43
    • 0033772932 scopus 로고    scopus 로고
    • Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland
    • Sarantaus L, Huusko P, Eerola H et al. Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet 2000;8: 757-763.
    • (2000) Eur J Hum Genet , vol.8 , pp. 757-763
    • Sarantaus, L.1    Huusko, P.2    Eerola, H.3
  • 44
    • 0034813329 scopus 로고    scopus 로고
    • A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer
    • Einbeigi Z, Bergman A, Kindblom LG et al. A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer. Eur J Cancer 2001;37: 1904-1909.
    • (2001) Eur J Cancer , vol.37 , pp. 1904-1909
    • Einbeigi, Z.1    Bergman, A.2    Kindblom, L.G.3
  • 45
    • 3142662152 scopus 로고    scopus 로고
    • BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect
    • Muller D, Bonaiti-Pellié C, Abecassis J et al. BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect. Fam Cancer 2004;3: 15-20.
    • (2004) Fam Cancer , vol.3 , pp. 15-20
    • Muller, D.1    Bonaiti-Pellié, C.2    Abecassis, J.3
  • 47
    • 10244267577 scopus 로고    scopus 로고
    • BRCA1 germline mutational spectrum in Italian families from Tuscany: A high frequency of novel mutations
    • Caligo MA, Ghimenti C, Cipollini G et al. BRCA1 germline mutational spectrum in Italian families from Tuscany: A high frequency of novel mutations. Oncogene 1996;13: 1483-1488.
    • (1996) Oncogene , vol.13 , pp. 1483-1488
    • Caligo, M.A.1    Ghimenti, C.2    Cipollini, G.3
  • 48
    • 0033028701 scopus 로고    scopus 로고
    • Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history
    • Tonin PN, Mes-Masson AM, Narod SA et al. Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history. Clin Genet 1999;55: 318-324.
    • (1999) Clin Genet , vol.55 , pp. 318-324
    • Tonin, P.N.1    Mes-Masson, A.M.2    Narod, S.A.3
  • 49
    • 33751583981 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2mutations in Pakistani breast and ovarian cancer patients
    • RashidMU,Zaidi A,TorresDet al. Prevalence of BRCA1 and BRCA2mutations in Pakistani breast and ovarian cancer patients. Int J Cancer 2006;119: 2832-2839.
    • (2006) Int J Cancer , vol.119 , pp. 2832-2839
    • Rashid, M.U.1    Zaidi, A.2    Torres, D.3
  • 50
    • 0035203330 scopus 로고    scopus 로고
    • Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families
    • Ikeda N, Miyoshi Y,Yoneda K et al. Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. Int J Cancer 2001;91: 83-88.
    • (2001) Int J Cancer , vol.91 , pp. 83-88
    • Ikeda, N.1    Miyoshi, Y.2    Yoneda, K.3
  • 51
    • 0036512383 scopus 로고    scopus 로고
    • Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population
    • Khoo US, Chan KY, Cheung AN et al. Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population. Hum Mutat 2002;19: 307-308.
    • (2002) Hum Mutat , vol.19 , pp. 307-308
    • Khoo, U.S.1    Chan, K.Y.2    Cheung, A.N.3
  • 52
    • 1542442226 scopus 로고    scopus 로고
    • Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore
    • Lee AS, Ho GH, Oh PC et al. Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore. Hum Mutat 2003;22: 178.
    • (2003) Hum Mutat , vol.22 , pp. 178
    • Lee, A.S.1    Ho, G.H.2    Oh, P.C.3
  • 53
    • 0036533601 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines
    • De Leon Matsuda ML, Liede A, Kwan E et al. BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines. Int J Cancer 2002;98: 596-603.
    • (2002) Int J Cancer , vol.98 , pp. 596-603
    • De Leon Matsuda, M.L.1    Liede, A.2    Kwan, E.3
  • 54
    • 22244470367 scopus 로고    scopus 로고
    • 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: 1666-1671.
    • (2005) Cancer Epidemiol Biomarkers Prev , vol.14 , pp. 1666-1671
    • Weitzel, J.N.1    Lagos, V.2    Blazer, K.R.3
  • 55
    • 34249717959 scopus 로고    scopus 로고
    • Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: A systematic review
    • Gerhardus A, Schleberger H, Schlegelberger B et al. Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: A systematic review. Eur J Hum Genet 2007;15: 619-627.
    • (2007) Eur J Hum Genet , vol.15 , pp. 619-627
    • Gerhardus, A.1    Schleberger, H.2    Schlegelberger, B.3
  • 56
    • 69949110747 scopus 로고    scopus 로고
    • Genomic rearrangements in BRCA1 and BRCA2: A literature review
    • Ewald IP, Ribeiro PL, Palmero EI et al. Genomic rearrangements in BRCA1 and BRCA2: A literature review. Genet Mol Biol 2009;32: 437-446.
    • (2009) Genet Mol Biol , vol.32 , pp. 437-446
    • Ewald, I.P.1    Ribeiro, P.L.2    Palmero, E.I.3
  • 57
    • 84867884099 scopus 로고    scopus 로고
    • Clinical significance of large rearrangements in BRCA1 and BRCA2
    • Judkins T, Rosenthal E, Arnell C et al. Clinical significance of large rearrangements in BRCA1 and BRCA2. Cancer 2012;118: 5210-5216.
    • (2012) Cancer , vol.118 , pp. 5210-5216
    • Judkins, T.1    Rosenthal, E.2    Arnell, C.3


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