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Volumn 11, Issue 1, 2012, Pages 57-67

BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients

Author keywords

BRCA1 gene; BRCA2 gene; Breast cancer; Genetic polymorphisms

Indexed keywords

ADENINE; ARGININE; ASPARAGINE; BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA2 PROTEIN; CYSTEINE; GLUTAMIC ACID; GLUTAMINE; GLYCINE; ISOLEUCINE; LEUCINE; PHENYLALANINE; PROLINE; SERINE; THREONINE; THYMINE; VALINE;

EID: 84858296064     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-011-9477-3     Document Type: Article
Times cited : (22)

References (48)
  • 1
    • 50549096296 scopus 로고    scopus 로고
    • Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals
    • De Silva W, Karunanayake EH, Tennekoon KH (2008) Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals. BMC Cancer 8:214
    • (2008) BMC Cancer , vol.8 , pp. 214
    • De Silva, W.1    Karunanayake, E.H.2    Tennekoon, K.H.3
  • 2
    • 59849128663 scopus 로고    scopus 로고
    • Outcome of breast cancer in Iran: A study of Tehran Cancer Registry data
    • Mousavi SM, Mohagheghi MA, Mousavi-Jerrahi A et al (2008) Outcome of breast cancer in Iran: a study of Tehran Cancer Registry data. Asian Pac J Cancer Prev 9(2):275-278
    • (2008) Asian Pac J Cancer Prev , vol.9 , Issue.2 , pp. 275-278
    • Mousavi, S.M.1    Mohagheghi, M.A.2    Mousavi-Jerrahi, A.3
  • 3
    • 0030843969 scopus 로고    scopus 로고
    • Breast cancer and hormone replacement therapy: Collaborative reanalysis of data from 51 epidemiological studies of 52705 women with breast cancer and 108411 women without breast cancer
    • Collaborative Group on Hormonal Factors in Breast Cancer
    • Collaborative Group on Hormonal Factors in Breast Cancer (1997) Breast cancer and hormone replacement therapy: collaborative reanalysis of data from 51 epidemiological studies of 52705 women with breast cancer and 108411 women without breast cancer. Lancet 350:1047-1059
    • (1997) Lancet , vol.350 , pp. 1047-1059
  • 4
    • 50249093852 scopus 로고    scopus 로고
    • Breast cancer risks in Korean women. A literature review
    • Lee SM, Park JH, Park HJ (2008) Breast cancer risks in Korean women. A literature review. Int Nurs Rev 55:355-359
    • (2008) Int Nurs Rev , vol.55 , pp. 355-359
    • Lee, S.M.1    Park, J.H.2    Park, H.J.3
  • 5
    • 0029163088 scopus 로고
    • Breast cancer: Cause and prevention
    • Hulka BS, Stark AT (1995) Breast cancer: cause and prevention. Lancet 346:883-887
    • (1995) Lancet , vol.346 , pp. 883-887
    • Hulka, B.S.1    Stark, A.T.2
  • 6
    • 0027218972 scopus 로고
    • Breast cancer epidemiology: Summary and future directions
    • Kelsey JL (1993) Breast cancer epidemiology: summary and future directions. Epidemiol Rev 15:256-263
    • (1993) Epidemiol Rev , vol.15 , pp. 256-263
    • Kelsey, J.L.1
  • 7
    • 0025999033 scopus 로고
    • The human gene for vascular endothelial growth factor. Multiple protein forms are encoded through alternative exon splicing
    • Tischer E, Mitchell R, Hartman T et al (1991) The human gene for vascular endothelial growth factor. Multiple protein forms are encoded through alternative exon splicing. J Biol Chem 266:11947-11954
    • (1991) J Biol Chem , vol.266 , pp. 11947-11954
    • Tischer, E.1    Mitchell, R.2    Hartman, T.3
  • 8
    • 2742525287 scopus 로고
    • Inheritance of human breast cancer: Evidence for autosomal dominant transmission in high risk families
    • Newman B, Austin MA, Lee M, King MC (1988) Inheritance of human breast cancer: evidence for autosomal dominant transmission in high risk families. Proc Natl Acad Sci USA 85:3044-3048
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 3044-3048
    • Newman, B.1    Austin, M.A.2    Lee, M.3    King, M.C.4
  • 9
    • 1642576139 scopus 로고    scopus 로고
    • Associations between Breast Cancer Susceptibility Gene Polymorphisms and Clinicopathological Features
    • DOI 10.1158/1078-0432.CCR-0834-3
    • Han W, Kang D, Park I, Kim SW, Bae JY, Chung K, Noh D (2004) Associations between breast cancer susceptibility gene polymorphisms and clinicopathological features. Clin Cancer Res 10:124-130 (Pubitemid 38114170)
    • (2004) Clinical Cancer Research , vol.10 , Issue.1 I , pp. 124-130
    • Han, W.1    Kang, D.2    Park, I.A.3    Kim, S.W.4    Bae, J.Y.5    Chung, K.-W.6    Noh, D.-Y.7
  • 12
    • 13144292425 scopus 로고    scopus 로고
    • 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, Labropoulos S, Petounis A, Gaki V, Keramopoulos A, Pandis N (2004) 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 4:61-70
    • (2004) BMC Cancer , vol.4 , pp. 61-70
    • Belogianni, I.1    Apessos, A.2    Mihalatos, M.3    Labropoulos, S.4    Petounis, A.5    Gaki, V.6    Keramopoulos, A.7    Pandis, N.8
  • 13
    • 0033570046 scopus 로고    scopus 로고
    • Ethnic differences in cancer risk resulting from genetic variation
    • Neuhausen SL (1999) Ethnic differences in cancer risk resulting from genetic variation. Cancer 86:2575-2582
    • (1999) Cancer , vol.86 , pp. 2575-2582
    • Neuhausen, S.L.1
  • 14
    • 0030060104 scopus 로고    scopus 로고
    • Cancer mortality in relatives of women with breast cancer: The OPCS study
    • Peto J, Easton DF, Matthews FE, Ford D, Swerdlow AJ (1996) Cancer mortality in relatives of women with breast cancer: the OPCS study. Int J Cancer 65:273-283
    • (1996) Int J Cancer , vol.65 , pp. 273-283
    • Peto, J.1    Easton, D.F.2    Matthews, F.E.3    Ford, D.4    Swerdlow, A.J.5
  • 16
    • 0038207961 scopus 로고    scopus 로고
    • Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
    • DOI 10.1002/gcc.10221
    • Claes K, Poppe B, Machackova E, Coene I, Foretova L, De Paepe A, Messiaen L (2003) Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 37:314-320 (Pubitemid 36667570)
    • (2003) Genes Chromosomes and Cancer , vol.37 , Issue.3 , pp. 314-320
    • Claes, K.1    Poppe, B.2    Machackova, E.3    Coene, I.4    Foretova, L.5    De Paepe, A.6    Messiaen, L.7
  • 19
    • 0036450901 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancer in Asia: Genetic epidemiology of BRCA1 and BRCA2
    • DOI 10.1002/humu.10154
    • Liede A, Narod SA (2002) Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 20:413-424 (Pubitemid 35453558)
    • (2002) Human Mutation , vol.20 , Issue.6 , pp. 413-424
    • Liede, A.1    Narod, S.A.2
  • 21
    • 2442650570 scopus 로고    scopus 로고
    • Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients
    • DOI 10.1200/JCO.2004.04.179
    • Choi DH, Lee MH, Bale AE, Carter D, Haffty BG (2004) Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol 22:1638-1645 (Pubitemid 41079802)
    • (2004) Journal of Clinical Oncology , vol.22 , Issue.9 , pp. 1638-1645
    • Choi, D.H.1    Lee, M.H.2    Dale, A.E.3    Carter, D.4    Haffty, B.G.5
  • 22
    • 1442329632 scopus 로고    scopus 로고
    • Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast-ovarian cancer families
    • Valarmathi MT, Sawheney M, Deo SSV, Shukla NK, Das SN (2004) Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast-ovarian cancer families. Hum Mutat 23:205-211
    • (2004) Hum Mutat , vol.23 , pp. 205-211
    • Valarmathi, M.T.1    Sawheney, M.2    Deo, S.S.V.3    Shukla, N.K.4    Das, S.N.5
  • 25
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 26
    • 0042316754 scopus 로고    scopus 로고
    • Standardizing mutation nomenclature: Why bother?
    • den Dunnen JT, Paalman MH (2004) Standardizing mutation nomenclature: why bother? Hum Mutat 22:181-182
    • (2004) Hum Mutat , vol.22 , pp. 181-182
    • Den Dunnen, J.T.1    Paalman, M.H.2
  • 27
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • DOI 10.1093/nar/gkg509
    • Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-3814 (Pubitemid 37442253)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 28
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:3894-3900 (Pubitemid 35012462)
    • (2002) Nucleic Acids Research , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 29
    • 25144496606 scopus 로고    scopus 로고
    • PMUT: A web-based tool for the annotation of pathological mutations on proteins
    • DOI 10.1093/bioinformatics/bti486
    • Ferrer-Costa C, Gelpi JL, Zamakola L (2005) PMUT: a webbased tool for the annotation of pathological mutations on proteins. Bioinformatics 21:3176-3178 (Pubitemid 41418475)
    • (2005) Bioinformatics , vol.21 , Issue.14 , pp. 3176-3178
    • Ferrer-Costa, C.1    Gelpi, J.L.2    Zamakola, L.3    Parraga, I.4    De La, C.X.5    Orozco, M.6
  • 32
    • 0035030368 scopus 로고    scopus 로고
    • Breast cancer genetics: What we know and what we need
    • DOI 10.1038/87876
    • Nathanson KN, Wooster R, Webber BL (2001) Breast cancer genetics: what we know and what we need. Nat Med 7:552-556 (Pubitemid 32448321)
    • (2001) Nature Medicine , vol.7 , Issue.5 , pp. 552-556
    • Nathanson, K.N.1    Wooster, R.2    Weber, B.L.3
  • 33
    • 36448996703 scopus 로고    scopus 로고
    • Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    • DOI 10.1038/nrc2054, PII NRC2054
    • Fackenthal JD, Olopade OI (2007) Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 7:937-948 (Pubitemid 350165853)
    • (2007) Nature Reviews Cancer , vol.7 , Issue.12 , pp. 937-948
    • Fackenthal, J.D.1    Olopade, O.I.2
  • 34
    • 0142178215 scopus 로고    scopus 로고
    • Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
    • DOI 10.1126/science.1088759
    • King MC, Marks JH, Mandell JB (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643-646 (Pubitemid 37310920)
    • (2003) Science , vol.302 , Issue.5645 , pp. 643-646
    • King, M.-C.1    Marks, J.H.2    Mandell, J.B.3
  • 35
    • 0034307185 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 are necessary for the transcription-coupled repair of the oxidative 8-oxoguanine lesion in human cells
    • Page FL, Randrianarison V, Marot D, Cabannes J, Perricaudet M, Feunteun J, Sarasin A (2000) BRCA1 and BRCA2 are necessary for the transcription-coupled repair of the oxidative 8-oxoguanine lesion in human cells. Cancer Res 60:5548-5552
    • (2000) Cancer Res , vol.60 , pp. 5548-5552
    • Page, F.L.1    Randrianarison, V.2    Marot, D.3    Cabannes, J.4    Perricaudet, M.5    Feunteun, J.6    Sarasin, A.7
  • 36
    • 0037684805 scopus 로고    scopus 로고
    • The multiple nuclear functions of BRCA1: Transcription, ubiquitination and DNA repair
    • DOI 10.1016/S0955-0674(03)00042-5
    • Starita LM, Parvin JD (2003) The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair. Curr Opin Cell Biol 15(3):345-350 (Pubitemid 36638654)
    • (2003) Current Opinion in Cell Biology , vol.15 , Issue.3 , pp. 345-350
    • Starita, L.M.1    Parvin, J.D.2
  • 37
    • 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 (Pubitemid 39215065)
    • (2004) Nature Reviews Cancer , vol.4 , Issue.9 , pp. 665-676
    • Narod, S.A.1    Foulkes, W.D.2
  • 39
    • 0033799478 scopus 로고    scopus 로고
    • Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing
    • Unger MA, Nathanson KL, Calzone K, Antin-Ozerkis D, Shih HA, Martin AM, Lenoir GM, Mazoyer S, Weber BL (2000) Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 67:841-850
    • (2000) Am J Hum Genet , vol.67 , pp. 841-850
    • Unger, M.A.1    Nathanson, K.L.2    Calzone, K.3    Antin-Ozerkis, D.4    Shih, H.A.5    Martin, A.M.6    Lenoir, G.M.7    Mazoyer, S.8    Weber, B.L.9
  • 40
    • 0031018633 scopus 로고    scopus 로고
    • AT-tributable risks?
    • DOI 10.1038/ng0397-226
    • Bishop DT, Hopper JL (1997) AT-tributable risks? Nature Genet 15:226 (Pubitemid 27098713)
    • (1997) Nature Genetics , vol.15 , Issue.3 , pp. 226
    • Bishop, D.T.1    Hopper, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.