메뉴 건너뛰기




Volumn 7, Issue 12, 1998, Pages 1907-1912

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases

(19)  Houlston, Richard n   Bevan, Stephen n   Williams, Andrew a   Young, Joanne b   Dunlop, Malcolm c   Rozen, Paul d   Eng, Charis e   Markie, David f   Woodford Richens, Kelly g   Rodriguez Bigas, Miguel A h   Leggett, Barbara b   Neale, Kay i   Phillips, Robin i   Sheridan, Eamon j   Hodgson, Shirley k   Iwama, Takeo l   Eccles, Diana m   Bodmer, Walter g   Tomlinson, Ian g  


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 18Q; COWDEN SYNDROME; DIGESTIVE SYSTEM CANCER; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; JUVENILE POLYP; MALE; MISSENSE MUTATION; PEDIGREE; POLYPOSIS; PRIORITY JOURNAL;

EID: 7844251203     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.12.1907     Document Type: Article
Times cited : (117)

References (26)
  • 1
    • 0024853253 scopus 로고
    • Inherited disorders associated with colorectal cancer
    • Murday, V. and Slack, J. (1989) Inherited disorders associated with colorectal cancer. Cancer Surv., 8, 139-157.
    • (1989) Cancer Surv. , vol.8 , pp. 139-157
    • Murday, V.1    Slack, J.2
  • 2
    • 0031971514 scopus 로고    scopus 로고
    • Molecular classification of the inherited hamartoma syndromes: Clearing the muddied waters
    • Eng, C. and Ji, H.-L. (1998) Molecular classification of the inherited hamartoma syndromes: clearing the muddied waters. Am. J. Hum. Genet., 62, 1020-1022.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1020-1022
    • Eng, C.1    Ji, H.-L.2
  • 3
    • 0031048855 scopus 로고    scopus 로고
    • Clinical and molecular features of the Hereditary Mixed Polyposis Syndrome
    • Whitelaw, S.C. et al. (1997) Clinical and molecular features of the Hereditary Mixed Polyposis Syndrome. Gastroenterology, 112, 327-334.
    • (1997) Gastroenterology , vol.112 , pp. 327-334
    • Whitelaw, S.C.1
  • 4
    • 19144370572 scopus 로고    scopus 로고
    • Genetic mapping of the hereditary mixed polyposis syndrome to chromosome 6q
    • Thomas, H.J.W. et al. (1996) Genetic mapping of the hereditary mixed polyposis syndrome to chromosome 6q. Am. J. Hum. Genet., 58, 770-776.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 770-776
    • Thomas, H.J.W.1
  • 5
    • 0027163231 scopus 로고
    • Association between meningioma and Cowden's disease
    • Lyons, C.J., Wilson, C.B. and Horton, J.C. (1993) Association between meningioma and Cowden's disease. Neurology, 43, 1436-1437.
    • (1993) Neurology , vol.43 , pp. 1436-1437
    • Lyons, C.J.1    Wilson, C.B.2    Horton, J.C.3
  • 6
    • 0031004088 scopus 로고    scopus 로고
    • Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
    • Liaw, D. et al. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genet., 16, 64-67.
    • (1997) Nature Genet. , vol.16 , pp. 64-67
    • Liaw, D.1
  • 7
    • 0030936323 scopus 로고    scopus 로고
    • PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast and prostate cancer
    • Li, J. et al. (1997) PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast and prostate cancer. Science, 275, 1943-1947.
    • (1997) Science , vol.275 , pp. 1943-1947
    • Li, J.1
  • 8
    • 17144436629 scopus 로고    scopus 로고
    • Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers
    • Steck, P.A. et al. (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genet., 15, 356-362.
    • (1997) Nature Genet. , vol.15 , pp. 356-362
    • Steck, P.A.1
  • 9
    • 0030801275 scopus 로고    scopus 로고
    • Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas
    • Rhei, E. et al. (1997) Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. Cancer Res., 57, 3657-3659.
    • (1997) Cancer Res. , vol.57 , pp. 3657-3659
    • Rhei, E.1
  • 10
    • 0030777104 scopus 로고    scopus 로고
    • Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma
    • Guldberg, P. et al. (1997) Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma. Cancer Res., 57, 3660-3663.
    • (1997) Cancer Res. , vol.57 , pp. 3660-3663
    • Guldberg, P.1
  • 11
    • 0030761409 scopus 로고    scopus 로고
    • Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies
    • Tashiro, H. et al. (1997) Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. Cancer Res., 57, 3935-3940.
    • (1997) Cancer Res. , vol.57 , pp. 3935-3940
    • Tashiro, H.1
  • 12
    • 0030799909 scopus 로고    scopus 로고
    • Somatic mutations of PTEN in glioblastoma multiforme
    • Wang, S.I. et al. (1997) Somatic mutations of PTEN in glioblastoma multiforme. Cancer Res., 57, 4183-4186.
    • (1997) Cancer Res. , vol.57 , pp. 4183-4186
    • Wang, S.I.1
  • 13
    • 0030817576 scopus 로고    scopus 로고
    • PTEN gene mutations are seen in high-grade but not in low-grade gliomas
    • Rasheed, B.K. et al. (1997) PTEN gene mutations are seen in high-grade but not in low-grade gliomas. Cancer Res., 57, 4187-4190.
    • (1997) Cancer Res. , vol.57 , pp. 4187-4190
    • Rasheed, B.K.1
  • 14
    • 0030730905 scopus 로고    scopus 로고
    • Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors
    • Dahia, P.L. et al. (1997) Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Cancer Res., 57, 4710-4713.
    • (1997) Cancer Res. , vol.57 , pp. 4710-4713
    • Dahia, P.L.1
  • 15
    • 0030781053 scopus 로고    scopus 로고
    • PTEN/MMAC1 mutations in endometrial cancers
    • Risinger, J.I. et al. (1997) PTEN/MMAC1 mutations in endometrial cancers. Cancer Res., 57, 4736-4738.
    • (1997) Cancer Res. , vol.57 , pp. 4736-4738
    • Risinger, J.I.1
  • 16
    • 0031827021 scopus 로고    scopus 로고
    • Genetic pathways of colorectal carcinogenesis rarely involve the PTEN and LKB1 genes outside the inherited hamartoma syndromes
    • Wang, Z.-J. et al. (1998) Genetic pathways of colorectal carcinogenesis rarely involve the PTEN and LKB1 genes outside the inherited hamartoma syndromes. Am. J. Pathol., 153, 363-366.
    • (1998) Am. J. Pathol. , vol.153 , pp. 363-366
    • Wang, Z.-J.1
  • 17
    • 0031203265 scopus 로고    scopus 로고
    • Germline mutations in PTEN are present in Bannayan-Zonana syndrome
    • Marsh, D.J. et al. (1997) Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nature Genet., 16, 333-334.
    • (1997) Nature Genet. , vol.16 , pp. 333-334
    • Marsh, D.J.1
  • 18
    • 15444339425 scopus 로고    scopus 로고
    • Exclusion of PTEN/MMAC1/TEP1 and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome (JPS)
    • Marsh, D.J. et al. (1997) Exclusion of PTEN/MMAC1/TEP1 and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome (JPS). Cancer Res., 57, 5017-5020.
    • (1997) Cancer Res. , vol.57 , pp. 5017-5020
    • Marsh, D.J.1
  • 19
    • 0031612533 scopus 로고    scopus 로고
    • PTEN germ-line mutations in juvenile polyposis coli
    • Olschwang, S. et al. (1998) PTEN germ-line mutations in juvenile polyposis coli. Nature Genet., 18, 12-14.
    • (1998) Nature Genet. , vol.18 , pp. 12-14
    • Olschwang, S.1
  • 20
    • 15844386165 scopus 로고    scopus 로고
    • Mutations of the human homologue of Drosophila patched in the naevoid basal cell carcinoma syndrome
    • Hahn, H. et al. (1996) Mutations of the human homologue of Drosophila patched in the naevoid basal cell carcinoma syndrome. Cell, 85, 841-851.
    • (1996) Cell , vol.85 , pp. 841-851
    • Hahn, H.1
  • 21
    • 0031960959 scopus 로고    scopus 로고
    • A gene for familial juvenile polyposis maps to chromosome 18q21.1
    • Howe, J.R. et al. (1998) A gene for familial juvenile polyposis maps to chromosome 18q21.1. Am. J. Hum. Genet., 62, 1129-1136.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1129-1136
    • Howe, J.R.1
  • 22
    • 0032524069 scopus 로고    scopus 로고
    • Mutations in the SMAD4/DPC4 gene in juvenile polyposis
    • Howe, J.R. et al. (1998) Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science, 280, 1086-1088.
    • (1998) Science , vol.280 , pp. 1086-1088
    • Howe, J.R.1
  • 23
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly, A., Rock, M.J. and Prockop, D.J. (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl Acad. Sci. USA, 90, 10325-10329.
    • (1993) Proc. Natl Acad. Sci. USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 24
    • 0029808666 scopus 로고    scopus 로고
    • Somatic alterations of the DPC4 gene in human colorectal cancers in vivo
    • Tagaki, Y. et al. (1996) Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. Gastroenterology, 111, 1369-1372.
    • (1996) Gastroenterology , vol.111 , pp. 1369-1372
    • Tagaki, Y.1
  • 25
    • 0030800924 scopus 로고    scopus 로고
    • Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas
    • MacGrogan, D. et al. (1997) Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas. Oncogene, 15, 1111-1114.
    • (1997) Oncogene , vol.15 , pp. 1111-1114
    • MacGrogan, D.1
  • 26
    • 0030938595 scopus 로고    scopus 로고
    • Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma
    • Moskaluk, C.A. et al. (1997) Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma. Diagn. Mol Pathol., 6, 85-90.
    • (1997) Diagn. Mol Pathol. , vol.6 , pp. 85-90
    • Moskaluk, C.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.