Germline mutations of the APC gene in two Japanese adenomatous polyposis patients

Japanese Journal of Human Genetics

Volumn 42, Issue 3, 1997, Pages 433-439

  Nimura, Yoshinori ^a   Furuwatari, Chizumi ^a   Fujimori, Minoru ^a   Fujimori, Yoshiro ^a   Nakata, Shinji ^a   Ito, Ken Ichi ^a   Hama, Yoshihisa ^a   Shingu, Kiyoshi ^a   Adachi, Wataru ^a   Ooiso, Yoshifumi ^a   Furihata, Ken Ichi ^a   Katsuyama, Tsutomu ^a   Amano, Jun ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

APC; FAP; Non radioactive PCR SSCP

Indexed keywords

CYTOSINE; GENE PRODUCT; GUANINE; LEUCINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COLON POLYPOSIS; COLORECTAL CANCER; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; GERM LINE; HUMAN; HUMAN CELL; JAPAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030660299     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02766945     Document Type: Article

References (13)

1. Ando H, Miyoshi Y, Nagase H, Baba S, Nakamura Y (1993): Detection of 12 germ-line mutations in the adenomatous polyposis coli gene by polymerase chain reaction. Gastroenterology 104: 989-993
2. Gelbert L, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Paslier DL, Abderrahim H, Cohen D, Leppert M, White R (1991): Identification and characterization of the familial adenomatous polyposis coli gène. Cell 66: 589-600
3. Horii A, Nakatsuru S, Miyoshi Y, Ichii S, Nagase H, Kato Y, Yanagisawa A, Nakamura Y (1992a): The APC gene, responsible for familial adenomatous polyposis, is mutated in human gastric cancer. Cancer Res 52: 3231-3233
4. Horii A, Nakatsuru S, Miyoshi Y, Ichii S, Nagase H, Ando H, Yanagisawa A, Tsuchiya E, Kato Y, Nakamura Y (1992b): Frequent somatic mutations of the APC gene in human pancreatic cancer. Cancer Res 52: 6696-6698
5. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Gruden J, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Paslier DL, Abderrahim H, Cohen D, Leppert M, White R (1991): Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 66: 601-613
6. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechinie D, Finniear R, Markham A, Groffen J, Boguski MS, Altschul SF, Horii A, Ando H, Miyoshi Y, Miki Y, Nishisho I, Nakamura Y (1991): Identification of FAP locus genes from chromosome 5q21. Science 253: 661-665
7. Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomiya J, Kinzler KW, Vogelstein B, Nakamura Y (1992): Disruption of the APC gene by a retrotransposal insertion of LI sequence in a colon cancer. Cancer Res 52: 643-645
8. Miyoshi Y, Ando H, Nagase H, Nishisho I, Horii A, Miki Y, Mori T, Utsunomiya J, Baba S, Petersen G, Hamilton SR, Kinzler KW, Vogelstein B, Nakamura Y (1992a): Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sei USA 89: 4452-4456
9. Nagase H, Miyoshi Y, Horii A. Aoki T, Ogawa M, Utsunomiya J, Baba S, Sasazuki T, Nakamura Y (1992a): Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 52: 4055-4057
10. Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B, Mäher E, Ogawa M, Maruyama M, Utsunomiya J, Baba S, Sasazuki T, Nakamura Y (1992b): Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutât 1: 467-473
11. Nagase H, Nakamura Y (1993): Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutât 2: 425-434
12. Nakatsuru S, Yanagisawa A, Ichii S, Tahara E, Kato Y, Nakamura Y, Horii A (1992): Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma. Hum Mol Genet 8: 559-563
13. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S. Hedge P, Markham A, Krush AJ, Petersen G, Hamilton SR, Nilbert MC, Levy DB, Bryan TM, Preisinger AC, Smith KJ, Su LK, Kinzler KW, Vogelstein B (1991): Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253: 665-669