Two novel mutations in exons 5 and 15 of the Adenomatous Polyposis Coli (APC) gene

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Delatycki, Martin ^a   Nasioulas, Steven ^a   Forshaw, Karina ^a   Forrest, Susan ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; COMPLEMENTARY DNA; CYTOSKELETON PROTEIN; ADENOSINE; RESTRICTION ENDONUCLEASE;

ARTICLE; CHEMISTRY; COLON POLYPOSIS; EXON; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; CASE REPORT; GENE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; BASE SEQUENCE; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; HUMANS; MUTAGENESIS, INSERTIONAL; MUTATION; SEQUENCE DELETION;

EID: 0032238896     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110198     Document Type: Article

References (13)

1. Bodmer WF, Bailey CJ, Bodmer J, Bussey HJR, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, Sheer D, Sol¬omon E, Spurr NK (1987) Localization of the gene for Familial Adenomatous Polyposis on chromosome 5. Nature 328:614-616.
2. Groden J, 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, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification and characterization of the Famil¬ial Adenomatous Polyposis Coli gene. Cell 66:589-600.
3. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Groden J, Stevens J, Spiro L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R (1991) Iden¬tification of deletion mutations and three new genes at the Familial Polyposis locus. Cell 66:601-613.
4. Kinzler KW, Nilbert MC, Su L-K, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie 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. Sci¬ence 253:661-665.
5. Leppert M, Dobbs M, Scambler P, O'Connoll P, Nakamura Y, Stauffer D, Woodward S, Burt R, Hughes JP, Gardner E, Lathrop M, Wasmuth J, Lalouel J-M, White R (1987) The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 238:1411-1413.
6. Nagase N, Nakamura Y (1993) Mutations of the APC (Adenoma-tous Polyposis Coli) gene. Hum Mutat 2:425-434.
7. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P, Markham A, Krush AJ, Pe-tersen G, Hamilton SR, Nilbert MC, Levy DB, Bryan TM, Preisinger AC, Smith KJ, Su L-K, Kinzler KW, Vogelstein B (1991) Mutations of chromosome 5q21 genes in FAP and colorectal can¬cer patients. Science 253:665-669.
8. Palmirotta R, Curia MC, Esposito DL, Valanzano R, Messerini L, Ficari F, Brandi ML, Tonelli F, Mariani-Costantini R, Battista P, Cama A (1995) Novel mutations and inactivation of both al-leles of the APC gene in desmoid tumours. Hum Molec Genet 4:1979-1981.
9. Polakis P (1995) Mutations in the APC gene and their implications for protein structure and function. Current Opinion in Genetics and Development 5:66-71.
10. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, Hamilton SR, Vogelstein B, Kinzler KW (1993) Molecular diag¬nosis of Familial Adenomatous Polyposis. New Eng J Med 329:1982-1987.
11. Roest PAM, Roberts RG, Sugino S, van Omnen G-JB, den Dunnen JT (1993) Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Molec Genet 2:1719-1721.
12. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H, Watson P, Lynch P, Laurent-Puig P, Burt R, Hughes J, Thomas G, Leppert M, White R (1993) Alleles of the PAC Gene: An attenuated form of familial polyposis. Cell 75:951-957.
13. van der Luijt R, Khan PM, Vasen H, van Leeuwen C, Tops C, Roest P, den Dunnen J, Fodde R (1994) Rapid detection of translation-termination mutations at the Adenomatous Polyposis Coli gene by direct protein truncation test. Genomics 20:1-4.