caa a22 4500 467984778 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193581 doi (NATIONALLICENCE)springer-10.1007/BF00193581 Molecular nature of chromosome 5q loss in colorectal tumors and desmoids from patients with familial adenomatous polyposis [Elektronische Daten] [Mieko Okamoto, Chieko Sato, Yuko Kohno, Takeo Mori, Takeo Iwama, Akira Tonomura, Yoshio Miki, Joji Utsunomiya, Yusuke Nakamura, Ray White, Michiko Miyaki] Summary: Familial adenomatous polyposis (FAP), which includes familial polyposis coli (FPC) and the Gardner syndrome (GS), is a genetically determined premalignant disease of the colon inherited by a locus (APC) mapping within 5q15-q22. To elucidate the role of 5q loss in FAP tumorigenesis, we analysed 51 colorectal tumors and seven desmoids from 19 cases of FPC and five GS patients, as well as 15 sporadic colon cancers. RFLP analysis revealed a high incidence of allelic deletion in hereditary colon cancers as well as in sporadic colon cancers with a peak at the APC locus. APC loss resulted primarily from interstitial deletion or mitotic recombination. Combined tumor and pedigree analysis in a GS family revealed loss of normal 5q alleles in three tumors, including a desmoid tumor, which suggests the involvement of hemizygosity or homozygosity of the defective APC gene in colon carcinogenesis and, possibly, in extracolonic neoplasms associated with FAP. Springer-Verlag, 1990 Okamoto Mieko Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut Sato Chieko Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut Kohno Yuko Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut Mori Takeo Division of Surgery, The Tokyo Metropolitan Komagome Hospital, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut Iwama Takeo Department of Surgery, Research Center for Polyposis and Intestinal Disease, 113, Tokyo, Japan aut Tonomura Akira Department of Cytogenetics, Tokyo Medical and Dental University, Yushima, 113, Tokyo, Japan aut Miki Yoshio Second Department of Surgery, Hyogo College of Medicine, 663, Nishinomiya-shi, Japan aut Utsunomiya Joji Second Department of Surgery, Hyogo College of Medicine, 663, Nishinomiya-shi, Japan aut Nakamura Yusuke Howard Hughes Medical Institute and Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut White Ray Howard Hughes Medical Institute and Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut Miyaki Michiko Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut Human Genetics Springer-Verlag 85/6(1990-10-01), 595-599 0340-6717 85:6<595 1990 85 439 https://doi.org/10.1007/BF00193581 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193581 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Okamoto Mieko Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Sato Chieko Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Kohno Yuko Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Mori Takeo Division of Surgery, The Tokyo Metropolitan Komagome Hospital, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Iwama Takeo Department of Surgery, Research Center for Polyposis and Intestinal Disease, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Tonomura Akira Department of Cytogenetics, Tokyo Medical and Dental University, Yushima, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Miki Yoshio Second Department of Surgery, Hyogo College of Medicine, 663, Nishinomiya-shi, Japan aut NATIONALLICENCE 700 1- Utsunomiya Joji Second Department of Surgery, Hyogo College of Medicine, 663, Nishinomiya-shi, Japan aut NATIONALLICENCE 700 1- Nakamura Yusuke Howard Hughes Medical Institute and Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- White Ray Howard Hughes Medical Institute and Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- Miyaki Michiko Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science, Honkomagome 3-18-22, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 595-599 0340-6717 85:6<595 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer