Journal ArticleDOI
Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene.
Li Kuo Su,Kenneth W. Kinzler,Bert Vogelstein,Antoinette C. Preisinger,Amy R. Moser,Cindy Luongo,Karen A. Gould,William F. Dove +7 more
TLDR
In this paper, a mouse lineage that exhibits an autosomal dominantly inherited predisposition to multiple intestinal neoplasia (Min) was described and linkage analysis showed that the murine homolog of the APC gene (mApc) was tightly linked to the Min locus.Abstract:
Germ-line mutations of the APC gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominantly inherited disease in humans. Patients with FAP develop multiple benign colorectal tumors. Recently, a mouse lineage that exhibits an autosomal dominantly inherited predisposition to multiple intestinal neoplasia (Min) was described. Linkage analysis showed that the murine homolog of the APC gene (mApc) was tightly linked to the Min locus. Sequence comparison of mApc between normal and Min-affected mice identified a nonsense mutation, which cosegregated with the Min phenotype. This mutation is analogous to those found in FAP kindreds and in sporadic colorectal cancers.read more
Citations
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Wnt/beta-catenin signaling in development and disease.
TL;DR: A remarkable interdisciplinary effort has unraveled the WNT (Wingless and INT-1) signal transduction cascade over the last two decades, finding that Germline mutations in the Wnt pathway cause several hereditary diseases, and somatic mutations are associated with cancer of the intestine and a variety of other tissues.
Journal ArticleDOI
Lessons from Hereditary Colorectal Cancer
TL;DR: The authors are grateful to the members of their laboratories for their contributions to the reviewed studies and to F. Giardiello and S. Hamilton for photographs of colorectal lesions.
Journal ArticleDOI
Wnt signaling and cancer
TL;DR: In this review, the wnt pathway will be covered from the perspective of cancer, with emphasis placed on molecular defects known to promote neoplastic transformation in humans and in animal models.
Journal ArticleDOI
Epidermal growth factor-related peptides and their receptors in human malignancies
Journal ArticleDOI
Suppression of Intestinal Polyposis in ApcΔ716 Knockout Mice by Inhibition of Cyclooxygenase 2 (COX-2)
Masanobu Oshima,Joseph E. Dinchuk,Stacia Kargman,Hiroko Oshima,Bruno C. Hancock,Elizabeth Kwong,James M. Trzaskos,Jilly F. Evans,Makoto Mark Taketo,Makoto Mark Taketo +9 more
TL;DR: Results provide direct genetic evidence that COX-2 plays a key role in tumorigenesis and indicate that COx-2-selective inhibitors can be a novel class of therapeutic agents for colorectal polyposis and cancer.
References
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Journal ArticleDOI
Genetic alterations during colorectal-tumor development.
Bert Vogelstein,Eric R. Fearon,Stanley R. Hamilton,Scott E. Kern,Ann C. Preisinger,Mark Leppert,A M Smits,Johannes L. Bos +7 more
TL;DR: It is found that ras-gene mutations occurred in 58 percent of adenomas larger than 1 cm and in 47 percent of carcinomas, which are consistent with a model of colorectal tumorigenesis in which the steps required for the development of cancer often involve the mutational activation of an oncogene coupled with the loss of several genes that normally suppress tumors.
Journal ArticleDOI
Identification and characterization of the familial adenomatous polyposis coli gene
Joanna Groden,Andrew Thliveris,Andrew Thliveris,Wade S. Samowitz,M. Carlson,Lawrence Gelbert,Lawrence Gelbert,Hans Albertsen,Geoff Joslyn,Geoff Joslyn,Jeff Stevens,Jeff Stevens,Lisa Spirio,Margaret Robertson,Margaret Robertson,Leslie Sargeant,Leslie Sargeant,Karen Krapcho,Karen Krapcho,E. Wolff,E. Wolff,Randall W. Burt,John P. Hughes,Janet A. Warrington,John Douglas Mcpherson,John J. Wasmuth,Denis Le Paslier,Hadi Abderrahim,Daniel Cohen,Mark Leppert,Mark Leppert,Ray White,Ray White +32 more
TL;DR: DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes located within a 100 kb region deleted in two of the patients, and data have established that DP2.5 is the APC gene.
Journal ArticleDOI
Mutations in the p53 gene occur in diverse human tumour types
Janice M. Nigro,Suzanne J. Baker,Antonette C. Preisinger,J M Jessup,R. Hostetter,Karen R. Cleary,S H Bigner,Nancy E. Davidson,Stephen B. Baylin,Peter Devilee +9 more
TL;DR: It is suggested that most tumours with allelic deletions of chromosome 17p contain p53 point mutations resulting in amino-acid substitutions, and p53 gene mutations are clustered in four 'hot-spots' which exactly coincide with the four most highly conserved regions of the gene.
Journal ArticleDOI
Identification of FAP locus genes from chromosome 5q21
Kenneth W. Kinzler,Mef Nilbert,Li Kuo Su,Bert Vogelstein,Tracy M. Bryan,Daniel B. Levy,Kelly J. Smith,Antonette C. Preisinger,Hedge Philip John,Douglas McKechnie,Rachel Finniear,Alex Markham,John Groffen,Mark S. Boguski,Stephen F. Altschul,Akira Horii,Hiroshi Ando,Yasuo Miyoshi,Yoshio Miki,Isamu Nishisho,Yusuke Nakamura +20 more
TL;DR: The APC gene was identified in a contig initiated from the MCC gene and was found to encode an unusually large protein, and these two closely spaced genes encode proteins predicted to contain coiled-coil regions, which were also expressed in a wide variety of tissues.
Journal ArticleDOI
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients
Isamu Nishisho,Yusuke Nakamura,Yasuo Miyoshi,Yoshio Miki,Hiroshi Ando,Akira Horii,Kumiko Koyama,Joji Utsunomiya,Shozo Baba,Hedge Philip John,Alex Markham,Anne J. Krush,Gloria M. Petersen,Stanley R. Hamilton,Mef Nilbert,Daniel B. Levy,Tracy M. Bryan,Antonette C. Preisinger,Kelly J. Smith,Li Kuo Su,Kenneth W. Kinzler,Bert Vogelstein +21 more
TL;DR: The data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS.
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Identification and characterization of the familial adenomatous polyposis coli gene
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Identification of FAP locus genes from chromosome 5q21
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