메뉴 건너뛰기




Volumn 2, Issue 3, 2004, Pages

Intronic TP53 Germline Sequence Variants Modify the Risk in German Breast/Ovarian Cancer Families

Author keywords

familial breast ovarian cancer; germline mutations; polymorphisms; TP53

Indexed keywords


EID: 64849097085     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-2-3-139     Document Type: Article
Times cited : (4)

References (40)
  • 1
    • 0033559933 scopus 로고    scopus 로고
    • Estimates of the worldwide incidence of 25 major cancers in 1990
    • 1:STN:280:DyaK1M7ntlajuw%3D%3D, 10074914
    • D.M. Parkin P. Pisani J. Ferlay Estimates of the worldwide incidence of 25 major cancers in 1990 Int J Cancer 1999 80 827 841 10.1002/(SICI)1097-0215(19990315)80:6<827::AID-IJC6>3.0.CO;2-P 1:STN:280:DyaK1M7ntlajuw%3D%3D 10074914
    • (1999) Int J Cancer , vol.80 , pp. 827-841
    • Parkin, D.M.1    Pisani, P.2    Ferlay, J.3
  • 4
    • 0028006563 scopus 로고
    • Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
    • 1:CAS:528:DyaK2cXmsFejsLY%3D, 8091231
    • R. Wooster S.L. Neuhausen J. Mangion Y. Quirk D. Ford N. Collins K. Nguyen S. Seal T. Tran D. Averill Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13 Science 1994 265 2088 2090 10.1126/science.8091231 1:CAS:528:DyaK2cXmsFejsLY%3D 8091231
    • (1994) Science , vol.265 , pp. 2088-2090
    • Wooster, R.1    Neuhausen, S.L.2    Mangion, J.3    Quirk, Y.4    Ford, D.5    Collins, N.6    Nguyen, K.7    Seal, S.8    Tran, T.9    Averill, D.10
  • 6
    • 0033281771 scopus 로고    scopus 로고
    • How many more breast cancer predisposition genes are there?
    • 138504, 1:CAS:528:DC%2BD3cXlsFKgs7s%3D, 11250676
    • D.F. Easton How many more breast cancer predisposition genes are there? Breast Cancer Res 1999 1 14 17 138504 10.1186/bcr6 1:CAS:528:DC%2BD3cXlsFKgs7s%3D 11250676
    • (1999) Breast Cancer Res , vol.1 , pp. 14-17
    • Easton, D.F.1
  • 7
    • 0025633582 scopus 로고
    • Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
    • 1:CAS:528:DyaK3MXjslSisw%3D%3D, 1978757
    • D. Malkin F.P. Li L.C. Strong J.F. Fraumeni Jr C.E. Nelson D.H. Kim J. Kassel M.A. Gryka F.Z. Bischoff M.A. Tainsky Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms Science 1990 250 1233 1238 10.1126/science.1978757 1:CAS:528:DyaK3MXjslSisw%3D%3D 1978757
    • (1990) Science , vol.250 , pp. 1233-1238
    • Malkin, D.1    Li, F.P.2    Strong, L.C.3    Fraumeni, J.F.4    Nelson, C.E.5    Kim, D.H.6    Kassel, J.7    Gryka, M.A.8    Bischoff, F.Z.9    Tainsky, M.A.10
  • 8
    • 0025648762 scopus 로고
    • Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome
    • 1:CAS:528:DyaK3MXls1OnsQ%3D%3D, 2259385
    • S. Srivastava Z.Q. Zou K. Pirollo W. Blattner E.H. Chang Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome Nature 1990 348 747 749 10.1038/348747a0 1:CAS:528:DyaK3MXls1OnsQ%3D%3D 2259385
    • (1990) Nature , vol.348 , pp. 747-749
    • Srivastava, S.1    Zou, Z.Q.2    Pirollo, K.3    Blattner, W.4    Chang, E.H.5
  • 11
    • 0028115720 scopus 로고
    • Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer
    • 1:CAS:528:DyaK2cXhtVemt7s%3D, 8302608
    • K.W. Jolly D. Malkin E.C. Douglass T.F. Brown A.E. Sinclair A.T. Look Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer Oncogene 1994 9 97 102 1:CAS:528:DyaK2cXhtVemt7s%3D 8302608
    • (1994) Oncogene , vol.9 , pp. 97-102
    • Jolly, K.W.1    Malkin, D.2    Douglass, E.C.3    Brown, T.F.4    Sinclair, A.E.5    Look, A.T.6
  • 12
    • 0026587603 scopus 로고
    • Constitutional p53 mutation in a non-Li-Fraumeni cancer family
    • 1977555, 1:STN:280:DyaK383it1yntQ%3D%3D, 1562462
    • J. Prosser D. Porter C. Coles A. Condie A.M. Thompson U. Chetty C.M. Steel H.J. Evans Constitutional p53 mutation in a non-Li-Fraumeni cancer family Br J Cancer 1992 65 527 528 1977555 10.1038/bjc.1992.109 1:STN:280:DyaK383it1yntQ%3D%3D 1562462
    • (1992) Br J Cancer , vol.65 , pp. 527-528
    • Prosser, J.1    Porter, D.2    Coles, C.3    Condie, A.4    Thompson, A.M.5    Chetty, U.6    Steel, C.M.7    Evans, H.J.8
  • 13
    • 0026787458 scopus 로고
    • Molecular genetics and biochemical mechanisms in bladder cancer. Oncogenes, tumor suppressor genes, and growth factors
    • 1:STN:280:DyaK3s%2FmvFOhsg%3D%3D, 1441021
    • D. Sidransky E. Messing Molecular genetics and biochemical mechanisms in bladder cancer. Oncogenes, tumor suppressor genes, and growth factors Urol Clin North Am 1992 19 629 639 1:STN:280:DyaK3s%2FmvFOhsg%3D%3D 1441021
    • (1992) Urol Clin North Am , vol.19 , pp. 629-639
    • Sidransky, D.1    Messing, E.2
  • 14
    • 0029787301 scopus 로고    scopus 로고
    • A novel p53 germline alteration identified in a late onset breast cancer kindred
    • 1:CAS:528:DyaK28XkvVSqur0%3D, 8710380
    • X.F. Sun O. Johannsson S. Hakansson G. Sellberg B. Nordenskjold H. Olsson A. Borg A novel p53 germline alteration identified in a late onset breast cancer kindred Oncogene 1996 13 407 411 1:CAS:528:DyaK28XkvVSqur0%3D 8710380
    • (1996) Oncogene , vol.13 , pp. 407-411
    • Sun, X.F.1    Johannsson, O.2    Hakansson, S.3    Sellberg, G.4    Nordenskjold, B.5    Olsson, H.6    Borg, A.7
  • 15
    • 0030957152 scopus 로고    scopus 로고
    • Li-Fraumeni syndrome - a molecular and clinical review
    • 2223793, 1:CAS:528:DyaK2sXkslaiu7Y%3D, 9218725
    • J.M. Varley D.G. Evans J.M. Birch Li-Fraumeni syndrome - a molecular and clinical review Br J Cancer 1997 76 1 14 2223793 10.1038/bjc.1997.328 1:CAS:528:DyaK2sXkslaiu7Y%3D 9218725
    • (1997) Br J Cancer , vol.76 , pp. 1-14
    • Varley, J.M.1    Evans, D.G.2    Birch, J.M.3
  • 16
    • 0025872582 scopus 로고
    • Tissue-specific expression of p53 in transgenic mice is regulated by intron sequences
    • 1:CAS:528:DyaK3MXktVahsbg%3D
    • G. Lozano A.J. Levine Tissue-specific expression of p53 in transgenic mice is regulated by intron sequences Mol Carcinogen 1991 4 3 9 10.1002/mc.2940040103 1:CAS:528:DyaK3MXktVahsbg%3D
    • (1991) Mol Carcinogen , vol.4 , pp. 3-9
    • Lozano, G.1    Levine, A.J.2
  • 18
    • 0034652588 scopus 로고    scopus 로고
    • Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial breast cancer
    • 1:CAS:528:DC%2BD3cXhs1ShsLk%3D, 10706125
    • T.A. Lehman B.G. Haffty C.J. Carbone L.R. Bishop A.A. Gumbs S. Krishnan P.G. Shields R. Modali B.C. Turner Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial breast cancer Cancer Res 2000 60 1062 1069 1:CAS:528:DC%2BD3cXhs1ShsLk%3D 10706125
    • (2000) Cancer Res , vol.60 , pp. 1062-1069
    • Lehman, T.A.1    Haffty, B.G.2    Carbone, C.J.3    Bishop, L.R.4    Gumbs, A.A.5    Krishnan, S.6    Shields, P.G.7    Modali, R.8    Turner, B.C.9
  • 19
    • 0030777784 scopus 로고    scopus 로고
    • Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families
    • 1051113, 1:STN:280:DyaK1c%2FltleltQ%3D%3D, 9391879
    • U. Hamann M. Haner U. Stosiek G. Bastert R.J. Scott Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families J Med Genet 1997 34 884 888 1051113 10.1136/jmg.34.11.884 1:STN:280:DyaK1c%2FltleltQ%3D%3D 9391879
    • (1997) J Med Genet , vol.34 , pp. 884-888
    • Hamann, U.1    Haner, M.2    Stosiek, U.3    Bastert, G.4    Scott, R.J.5
  • 20
    • 0031023312 scopus 로고    scopus 로고
    • German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene
    • 1:CAS:528:DyaK2sXhsVOisLs%3D, 9115962
    • U. Hamann H. Brauch A.M. Garvin G. Bastert R.J. Scott German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene Genes Chromosomes Cancer 1997 18 126 132 10.1002/(SICI)1098-2264(199702)18:2<126::AID-GCC7>3.0.CO;2-4 1:CAS:528:DyaK2sXhsVOisLs%3D 9115962
    • (1997) Genes Chromosomes Cancer , vol.18 , pp. 126-132
    • Hamann, U.1    Brauch, H.2    Garvin, A.M.3    Bastert, G.4    Scott, R.J.5
  • 21
    • 0034091778 scopus 로고    scopus 로고
    • Survival and tumor characteristics of German hereditary breast cancer patients
    • 1:STN:280:DC%2BD3c3nsFSmtw%3D%3D, 10817354
    • U. Hamann H.P. Sinn Survival and tumor characteristics of German hereditary breast cancer patients Breast Cancer Res Treat 2000 59 185 192 10.1023/A:1006350518190 1:STN:280:DC%2BD3c3nsFSmtw%3D%3D 10817354
    • (2000) Breast Cancer Res Treat , vol.59 , pp. 185-192
    • Hamann, U.1    Sinn, H.P.2
  • 22
    • 17944403958 scopus 로고    scopus 로고
    • Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany
    • 1735066, 1:STN:280:DC%2BD387otFSiug%3D%3D, 11897832
    • U. Hamann X. Liu S. Lange H.U. Ulmer A. Benner R.J. Scott Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany J Med Genet 2002 39 E12 1735066 10.1136/jmg.39.3.e12 1:STN:280:DC%2BD387otFSiug%3D%3D 11897832
    • (2002) J Med Genet , vol.39 , pp. E12
    • Hamann, U.1    Liu, X.2    Lange, S.3    Ulmer, H.U.4    Benner, A.5    Scott, R.J.6
  • 24
    • 0029766202 scopus 로고    scopus 로고
    • German family study on hereditary breast-ovarian cancer
    • 1050694, 1:STN:280:DyaK2s%2Fhs1GhtA%3D%3D, 8863152
    • U. Hamann H. Becher T. Zimmermann K. Pella G. Bastert J. Chang-Claude German family study on hereditary breast-ovarian cancer J Med Genet 1996 33 633 635 1050694 10.1136/jmg.33.8.633 1:STN:280:DyaK2s%2Fhs1GhtA%3D%3D 8863152
    • (1996) J Med Genet , vol.33 , pp. 633-635
    • Hamann, U.1    Becher, H.2    Zimmermann, T.3    Pella, K.4    Bastert, G.5    Chang-Claude, J.6
  • 27
    • 3543046171 scopus 로고    scopus 로고
    • Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family
    • 1:CAS:528:DyaK1cXktFKltrw%3D, 9703430
    • S.C. Evans B. Mims K.M. McMasters C.J. Foster M. deAndrade C.I. Amos L.C. Strong G. Lozano Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family Hum Genet 1998 102 681 686 10.1007/s004390050761 1:CAS:528:DyaK1cXktFKltrw%3D 9703430
    • (1998) Hum Genet , vol.102 , pp. 681-686
    • Evans, S.C.1    Mims, B.2    McMasters, K.M.3    Foster, C.J.4    deAndrade, M.5    Amos, C.I.6    Strong, L.C.7    Lozano, G.8
  • 28
    • 0031771435 scopus 로고    scopus 로고
    • Aberrant cytoplasmic expression of the p16 protein in breast cancer is associated with accelerated tumour proliferation
    • 2063248, 1:CAS:528:DyaK1MXhslKltQ%3D%3D, 9862580
    • R. Emig A. Magener V. Ehemann A. Meyer F. Stilgenbauer M. Volkmann D. Wallwiener H.P. Sinn Aberrant cytoplasmic expression of the p16 protein in breast cancer is associated with accelerated tumour proliferation Br J Cancer 1998 78 1661 1668 2063248 10.1038/bjc.1998.739 1:CAS:528:DyaK1MXhslKltQ%3D%3D 9862580
    • (1998) Br J Cancer , vol.78 , pp. 1661-1668
    • Emig, R.1    Magener, A.2    Ehemann, V.3    Meyer, A.4    Stilgenbauer, F.5    Volkmann, M.6    Wallwiener, D.7    Sinn, H.P.8
  • 29
    • 0029085820 scopus 로고
    • Absence of significant germ line p53 mutations in ovarian cancer patients
    • 1:CAS:528:DyaK2MXoslejsbc%3D, 7672703
    • R.E. Buller J.S. Skilling S. Kaliszewski T. Niemann B. Anderson Absence of significant germ line p53 mutations in ovarian cancer patients Gynecol Oncol 1995 58 368 374 10.1006/gyno.1995.1244 1:CAS:528:DyaK2MXoslejsbc%3D 7672703
    • (1995) Gynecol Oncol , vol.58 , pp. 368-374
    • Buller, R.E.1    Skilling, J.S.2    Kaliszewski, S.3    Niemann, T.4    Anderson, B.5
  • 30
    • 0030058617 scopus 로고    scopus 로고
    • The p53 gene in breast cancer: prognostic value of complementary DNA sequencing versus immunohistochemistry
    • 1:STN:280:DyaK283jtF2gsA%3D%3D, 8632491
    • S. Sjogren M. Inganas T. Norberg A. Lindgren H. Nordgren L. Holmberg J. Bergh The p53 gene in breast cancer: prognostic value of complementary DNA sequencing versus immunohistochemistry J Natl Cancer Inst 1996 88 173 182 10.1093/jnci/88.3-4.173 1:STN:280:DyaK283jtF2gsA%3D%3D 8632491
    • (1996) J Natl Cancer Inst , vol.88 , pp. 173-182
    • Sjogren, S.1    Inganas, M.2    Norberg, T.3    Lindgren, A.4    Nordgren, H.5    Holmberg, L.6    Bergh, J.7
  • 31
    • 0031589724 scopus 로고    scopus 로고
    • Polymorphisms in the p53 gene in thyroid tumours and blood samples of children from areas in Belarus
    • 1:CAS:528:DyaK2sXns1Wnu70%3D, 9434876
    • S. Hillebrandt C. Streffer E.P. Demidchik J. Biko C. Reiners Polymorphisms in the p53 gene in thyroid tumours and blood samples of children from areas in Belarus Mutat Res 1997 381 201 207 10.1016/S0027-5107(97)00169-3 1:CAS:528:DyaK2sXns1Wnu70%3D 9434876
    • (1997) Mutat Res , vol.381 , pp. 201-207
    • Hillebrandt, S.1    Streffer, C.2    Demidchik, E.P.3    Biko, J.4    Reiners, C.5
  • 35
    • 0032077330 scopus 로고    scopus 로고
    • A novel germ-line mutation in the noncoding region of the p53 gene in a Li-Fraumeni family
    • 1:CAS:528:DyaK1cXjtVansrY%3D, 9595036
    • D. Barel S. Avigad C. Mor M. Fogel I.J. Cohen R. Zaizov A novel germ-line mutation in the noncoding region of the p53 gene in a Li-Fraumeni family Cancer Genet Cytogenet 1998 103 1 6 10.1016/S0165-4608(97)00258-6 1:CAS:528:DyaK1cXjtVansrY%3D 9595036
    • (1998) Cancer Genet Cytogenet , vol.103 , pp. 1-6
    • Barel, D.1    Avigad, S.2    Mor, C.3    Fogel, M.4    Cohen, I.J.5    Zaizov, R.6
  • 37
    • 0029620615 scopus 로고
    • A novel polymorphism in intron 6 of the human p53 gene: a possible association with cancer predisposition and susceptibility
    • 1:CAS:528:DyaK28XitFCkug%3D%3D, 8534372
    • S. Peller Y. Kopilova S. Slutzki A. Halevy K. Kvitko V. Rotter A novel polymorphism in intron 6 of the human p53 gene: a possible association with cancer predisposition and susceptibility DNA Cell Biol 1995 14 983 990 10.1089/dna.1995.14.983 1:CAS:528:DyaK28XitFCkug%3D%3D 8534372
    • (1995) DNA Cell Biol , vol.14 , pp. 983-990
    • Peller, S.1    Kopilova, Y.2    Slutzki, S.3    Halevy, A.4    Kvitko, K.5    Rotter, V.6
  • 38
    • 0028333951 scopus 로고
    • Ubiquitous and tenacious methylation of the CpG site in codon 248 of the p53 gene may explain its frequent appearance as a mutational hot spot in human cancer
    • 358788, 1:CAS:528:DyaK2cXktlaiurg%3D, 8196660
    • A.N. Magewu P.A. Jones Ubiquitous and tenacious methylation of the CpG site in codon 248 of the p53 gene may explain its frequent appearance as a mutational hot spot in human cancer Mol Cell Biol 1994 14 4225 4232 358788 10.1128/MCB.14.6.4225 1:CAS:528:DyaK2cXktlaiurg%3D 8196660
    • (1994) Mol Cell Biol , vol.14 , pp. 4225-4232
    • Magewu, A.N.1    Jones, P.A.2
  • 40
    • 0003412927 scopus 로고    scopus 로고
    • Sobin L.H., Wittekind Ch, (eds), 5, New York, Wiley & Sons
    • UICC L.H. Sobin C. Wittekind Ch TNM classification of malignant tumours 1997 5 New York Wiley & Sons
    • (1997) TNM classification of malignant tumours


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.