Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques

Human Mutation

Volumn 9, Issue 4, 1997, Pages 370-373

  Gismondi, Viviana ^a   Bafico, Anna ^a   Biticchi, Roberta ^a   Pedemonte, Simona ^a   Molina, Francesco ^b   Heouaine, Abdelhamid ^a   Sala, Paola ^a   Bertario, Lucio ^c   Presciuttini, Silvano ^c   Strigini, Paolo ^c   Groden, Joanna ^d   Varesco, Liliana ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b ADVANCED BIOTECHNOLOGY CENTER   (Italy)

^c Italian Polyposis Registry   (Italy)

^d UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOUS POLYP; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; ITALY; PRIORITY JOURNAL;

EID: 16944365156     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)9:4<370::aid-humu14>3.0.co;2-%23     Document Type: Article

References (11)

1. Bapat S, Berk T, Mitri A, Cohen Z, Gallinger S, Stern H (1994) Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP). Hum Mutat 4:253-256.
2. Beaudet AL, and Tsui L (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
3. Burt RW (1992) Polyposis Syndromes. In Yamada T, Alpers DH, Owyang C, Powell DW, Silverstein FE (ed): Textbook of Gastroenterology. Philadelphia: JB Lippincott Company, pp 1614-1696.
4. Cama A, Palmirotta R, Esposito D, Curia MC, Ranieri A, Ficari F, Valanzano R, Battista P, Frati L, Tonelli F, Mariani-Costantini R (1994a) A novel deletion in exon 15 of the adenomatous polyposis coli gene in an Italian kindred. Hum Mutat 3:301-304.
5. Cama A, Esposito D, Palmirotta R, Curia MC, Ranieri A, Ficari F, Valanzano R, Modesti A, Battista P, Tonelli F, Mariani-Costantini R (1994b) A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis. Hum Mutat 3:305-308.
6. Cama A, Palmirotta R, Curia MC, Esposito D, Ranieri A, Ficari F, Valanzano R, Battista P, Modesti A, Tonelli F, Mariani-Costantini R (1995) Multiplex PCR analysis and genotype-phenotype correlations of frequent APC mutations. Hum Mutat 5:144-152.
7. Cottrell S, Bicknell D, Kaklamanis L, Bodmer WF (1992) Molec-ular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 340:626-630.
8. Fodde R, van der Luijt R, Wijnen J, Tops C, van der Klift H, van Leeuwen - Corne-Iisse I, Griffioen G, Vasen H, Meera Khan P (1992) Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics 13:1162-1168.
9. Gayther SA, Wells D, SenGupta SB, Chapman P, Neale K, Tsioupra K, Delhanty J (1994) Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet 3:53-56.
10. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albersen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho, 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 familial adenomatous polyposis coli gene. Cell 66:589-600.
11. Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Joslyn G, Samowitz W, Spirio L, Carlson M, Burt R, Leppert M, White R (1993) Mutational analysis of patients with adenomatous polyposis: Identical inactivating mutations in unrelated individuals. Am J Hum Genet 52:263-272.