메뉴 건너뛰기




Volumn 16, Issue R1, 2007, Pages

Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: New lessons from old players

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP C PROTEIN; FANCONI ANEMIA GROUP D2 PROTEIN; FANCONI ANEMIA GROUP E PROTEIN; FANCONI ANEMIA GROUP F PROTEIN; FANCONI ANEMIA GROUP G PROTEIN; FANCONI ANEMIA GROUP L PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN P53;

EID: 34547785606     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm026     Document Type: Review
Times cited : (72)

References (56)
  • 1
    • 4043181214 scopus 로고    scopus 로고
    • Cancer genes and the pathways they control
    • Vogelstein, B. and Kinzler, K.W. (2004) Cancer genes and the pathways they control. Nat. Med., 10, 789-799.
    • (2004) Nat. Med , vol.10 , pp. 789-799
    • Vogelstein, B.1    Kinzler, K.W.2
  • 6
    • 0033523268 scopus 로고    scopus 로고
    • Cancer risks in BRCA2 mutation carriers
    • The Breast Cancer Linkage Consortium
    • The Breast Cancer Linkage Consortium. (1999) Cancer risks in BRCA2 mutation carriers. J. Natl Cancer Inst., 91, 1310-1316.
    • (1999) J. Natl Cancer Inst , vol.91 , pp. 1310-1316
  • 8
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    • Roa, B.B., Boyd, A.A., Volcik, K. and Richards, C.S. (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat. Genet., 14, 185-187.
    • (1996) Nat. Genet , vol.14 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Volcik, K.3    Richards, C.S.4
  • 13
    • 0037439356 scopus 로고    scopus 로고
    • Cancer in Fanconi anemia, 1927-2001
    • Alter, B.P. (2003) Cancer in Fanconi anemia, 1927-2001. Cancer, 97, 425-440.
    • (2003) Cancer , vol.97 , pp. 425-440
    • Alter, B.P.1
  • 15
    • 33846415079 scopus 로고    scopus 로고
    • Clinical and molecular features associated with biallelic mutations in FANCD1.BRCA2
    • Alter, B.P., Rosenberg, P.S. and Brody, L.C. (2007) Clinical and molecular features associated with biallelic mutations in FANCD1.BRCA2. J. Med. Genet., 44, 1-9.
    • (2007) J. Med. Genet , vol.44 , pp. 1-9
    • Alter, B.P.1    Rosenberg, P.S.2    Brody, L.C.3
  • 16
    • 0035125062 scopus 로고    scopus 로고
    • Thompson, D., Easton, D.F. and Breast Cancer Linkage Consortium (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am. J. Hum. Genet., 68, 410-419.
    • Thompson, D., Easton, D.F. and Breast Cancer Linkage Consortium (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am. J. Hum. Genet., 68, 410-419.
  • 19
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • Fishel, R., Lescoe, M.K., Rao, M.R., Copeland, N.G., Jenkins, N.A., Garber, J., Kane, M. and Kolodner, R. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75, 1027-1038.
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.K.2    Rao, M.R.3    Copeland, N.G.4    Jenkins, N.A.5    Garber, J.6    Kane, M.7    Kolodner, R.8
  • 23
    • 0033825587 scopus 로고    scopus 로고
    • Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1
    • Syngal, S., Fox, E.A., Eng, C., Kolodner, R.D. and Garber, J.E. (2000) Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J. Med. Genet., 37, 641-645.
    • (2000) J. Med. Genet , vol.37 , pp. 641-645
    • Syngal, S.1    Fox, E.A.2    Eng, C.3    Kolodner, R.D.4    Garber, J.E.5
  • 27
    • 0031910118 scopus 로고    scopus 로고
    • A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype
    • Nicolaides, N.C., Littman, S.J., Modrich, P., Kinzler, K.W. and Vogelstein, B. (1998) A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. Mol. Cell Biol., 18, 1635-1641.
    • (1998) Mol. Cell Biol , vol.18 , pp. 1635-1641
    • Nicolaides, N.C.1    Littman, S.J.2    Modrich, P.3    Kinzler, K.W.4    Vogelstein, B.5
  • 29
    • 0001510499 scopus 로고    scopus 로고
    • Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene
    • De Rosa, M., Fasano, C., Panariello, L., Scarano, M.I., Belli, G., Iannelli, A., Ciciliano, F. and Izzo, P. (2000) Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene, 19, 1719-1723.
    • (2000) Oncogene , vol.19 , pp. 1719-1723
    • De Rosa, M.1    Fasano, C.2    Panariello, L.3    Scarano, M.I.4    Belli, G.5    Iannelli, A.6    Ciciliano, F.7    Izzo, P.8
  • 30
    • 0037081077 scopus 로고    scopus 로고
    • A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots
    • Whiteside, D., McLeod, R., Graham, G., Steckley, J.L., Booth, K., Somerville, M.J. and Andrew, S.E. (2002) A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. Cancer Res., 62, 359-362.
    • (2002) Cancer Res , vol.62 , pp. 359-362
    • Whiteside, D.1    McLeod, R.2    Graham, G.3    Steckley, J.L.4    Booth, K.5    Somerville, M.J.6    Andrew, S.E.7
  • 31
    • 16544395180 scopus 로고    scopus 로고
    • Ahomozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer
    • Menko, F.H., Kaspers, G.L., Meijer, G.A., Claes, K., van Hagen, J.M. and Gille, J.J. (2004)Ahomozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer. Fam. Cancer, 3, 123-127.
    • (2004) Fam. Cancer , vol.3 , pp. 123-127
    • Menko, F.H.1    Kaspers, G.L.2    Meijer, G.A.3    Claes, K.4    van Hagen, J.M.5    Gille, J.J.6
  • 32
    • 2342506542 scopus 로고    scopus 로고
    • Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome
    • De Vos, M., Hayward, B.E., Picton, S., Sheridan, E. and Bonthron, D.T. (2004) Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am. J. Hum. Genet., 74 954-964.
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 954-964
    • De Vos, M.1    Hayward, B.E.2    Picton, S.3    Sheridan, E.4    Bonthron, D.T.5
  • 33
    • 33846660119 scopus 로고    scopus 로고
    • Medulloblastoma, acute myelocytic leukaemia and colonic carcinomas in a child with biallelic MSH6 mutations
    • Scott, R.H., Mansour, S., Pritchard-Jones, K., Kumar, D., MacSweeney, F. and Rahman, N. (2007) Medulloblastoma, acute myelocytic leukaemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat. Clin. Pract. Oncol., 4, 130-134.
    • (2007) Nat. Clin. Pract. Oncol , vol.4 , pp. 130-134
    • Scott, R.H.1    Mansour, S.2    Pritchard-Jones, K.3    Kumar, D.4    MacSweeney, F.5    Rahman, N.6
  • 34
    • 14644396669 scopus 로고    scopus 로고
    • Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium
    • Plaschke, J., Engel, C., Kruger, S., Holinski-Feder, E., Pagenstecher, C., Mangold, E., Moeslein, G., Schulmann, K., Gebert, J., von Knebel Doeberitz, M. et al. (2004) Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. J. Clin. Oncol., 22, 4486-4494.
    • (2004) J. Clin. Oncol , vol.22 , pp. 4486-4494
    • Plaschke, J.1    Engel, C.2    Kruger, S.3    Holinski-Feder, E.4    Pagenstecher, C.5    Mangold, E.6    Moeslein, G.7    Schulmann, K.8    Gebert, J.9    von Knebel Doeberitz, M.10
  • 37
    • 26244435498 scopus 로고    scopus 로고
    • Molecular pathology of ataxia telangiectasia
    • Taylor, A.M. and Byrd, P.J. (2005) Molecular pathology of ataxia telangiectasia. J. Clin. Pathol., 58, 1009-1015.
    • (2005) J. Clin. Pathol , vol.58 , pp. 1009-1015
    • Taylor, A.M.1    Byrd, P.J.2
  • 40
    • 17344362697 scopus 로고    scopus 로고
    • ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: Expression of mutant ATM and the risk of leukaemia, lymphoma, and breast cancer
    • Stankovic, T., Kidd, A.M., Sutcliffe, A., McGuire, G.M., Robinson, P., Weber, P., Bedenham, T., Bradwell, A.R., Easton, D.F., Lennox, G.G. et al. (1998) ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: Expression of mutant ATM and the risk of leukaemia, lymphoma, and breast cancer. Am. J. Hum. Genet., 62 334-345.
    • (1998) Am. J. Hum. Genet , vol.62 , pp. 334-345
    • Stankovic, T.1    Kidd, A.M.2    Sutcliffe, A.3    McGuire, G.M.4    Robinson, P.5    Weber, P.6    Bedenham, T.7    Bradwell, A.R.8    Easton, D.F.9    Lennox, G.G.10
  • 41
    • 0023244806 scopus 로고
    • Breast and other cancers in families with ataxia-telangiectasia
    • Swift, M., Reitnauer, P.J., Morrell, D. and Chase, C.L. (1987) Breast and other cancers in families with ataxia-telangiectasia. N. Engl. J. Med., 316, 1289-1294.
    • (1987) N. Engl. J. Med , vol.316 , pp. 1289-1294
    • Swift, M.1    Reitnauer, P.J.2    Morrell, D.3    Chase, C.L.4
  • 44
    • 33749023605 scopus 로고    scopus 로고
    • ATM and breast cancer susceptibility
    • Ahmed, A. and Rahman, N. (2006) ATM and breast cancer susceptibility. Oncogene, 25, 5906-5911.
    • (2006) Oncogene , vol.25 , pp. 5906-5911
    • Ahmed, A.1    Rahman, N.2
  • 45
    • 33744481750 scopus 로고    scopus 로고
    • Molecular pathogenesis of Fanconi anemia: Recent progress
    • Taniguichi, T. and D'Andrea, A.D. (2006) Molecular pathogenesis of Fanconi anemia: Recent progress. Blood, 107, 4223-4233.
    • (2006) Blood , vol.107 , pp. 4223-4233
    • Taniguichi, T.1    D'Andrea, A.D.2
  • 46
    • 33846569450 scopus 로고
    • Biallelic mutations in PALB2, which encodes a BRCA2 interacting protein, cause Fanconi anemia subtype FA-N and predispose to childhood cancer
    • 10.1038/ng
    • Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M. et al. (2006) Biallelic mutations in PALB2, which encodes a BRCA2 interacting protein, cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat. Genet., 10.1038/ng1947.
    • (1947) Nat. Genet
    • Reid, S.1    Schindler, D.2    Hanenberg, H.3    Barker, K.4    Hanks, S.5    Kalb, R.6    Neveling, K.7    Kelly, P.8    Seal, S.9    Freund, M.10
  • 47
    • 0019200064 scopus 로고
    • Reassessment of cancer predisposition of Fanconi anemia heterozygotes
    • Swift, M., Caldwell, R.J. and Chase, C. (1980) Reassessment of cancer predisposition of Fanconi anemia heterozygotes. J. Natl Cancer Inst. 65, 863-867.
    • (1980) J. Natl Cancer Inst , vol.65 , pp. 863-867
    • Swift, M.1    Caldwell, R.J.2    Chase, C.3
  • 48
    • 9144268932 scopus 로고    scopus 로고
    • Evaluation of Fanconi anemia genes in familial breast cancer predisposition
    • and The Breast Cancer Susceptibility Collaboration UK
    • Seal, S., Barfoot, R., Jayatilake, H., Smith, P., Renwick, A., Baskcomb, L., McGuffog, L., Evans, D.G., Eccles, D. et al. and The Breast Cancer Susceptibility Collaboration (UK) (2003) Evaluation of Fanconi anemia genes in familial breast cancer predisposition. Cancer Res. 63, 8596-8599.
    • (2003) Cancer Res , vol.63 , pp. 8596-8599
    • Seal, S.1    Barfoot, R.2    Jayatilake, H.3    Smith, P.4    Renwick, A.5    Baskcomb, L.6    McGuffog, L.7    Evans, D.G.8    Eccles, D.9
  • 52
    • 1442281478 scopus 로고    scopus 로고
    • The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations
    • Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S. and Livingston, D.M. (2004) The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc. Natl Acad. Sci. USA, 101, 2357-2362.
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 2357-2362
    • Cantor, S.1    Drapkin, R.2    Zhang, F.3    Lin, Y.4    Han, J.5    Pamidi, S.6    Livingston, D.M.7
  • 56
    • 3042582651 scopus 로고    scopus 로고
    • CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 9,154 breast cancer cases and 8,881 controls from nine studies
    • The CHEK2 breast cancer consortium
    • The CHEK2 breast cancer consortium (2004) CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 9,154 breast cancer cases and 8,881 controls from nine studies. Am. J. Hum. Genet., 74, 1175-1182.
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 1175-1182


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.