Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 1921-1924

  Scott, Rodney J ^a   Froggatt, Nicola J ^b   Trembath, Richard C ^c   Evans, D Gareth R ^d   Hodgson, Shirley V ^e   Maher, Eamonn R ^a,f  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d ST MARY S HOSPITAL   (United Kingdom)

^e GUY S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DESMOID TUMOR; FAMILIAL COLON POLYPOSIS; FEMALE; FIBROMATOSIS; FRAMESHIFT MUTATION; HAPLOTYPE; HUMAN; MALE; PRIORITY JOURNAL;

EID: 0029849048     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.1921     Document Type: Article

References (25)

1. Klemmer S, Pascoe L and Decosse J (1987). Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am. J. Med. Genet., 28, 385-392.
2. Kinzler KW, Nilbert MC, Su LK, et al. (1991). Identification of FAP locus genes from chromosome 5q21. Science, 253, 661-665.
3. Groden J, Thliveris A, Samowitz W, et al. (1991). Identification and characterization of the familial adenomatous polyposis coli gene. Cell, 66, 589-600.
4. Joslyn G, Carlson M, Thliveris A, et al. (1991). Identification of deletion mutations and three new genes al the familial polyposis locus. Cell, 66, 601-631.
5. Nagase H and Nakamura Y (1993). Mutations of the APC (adenomatous polyposis coli) gene. Hum. Mutat., 2, 425-434.
6. Maher ER, Morson B, Beach R and Hodgson SV (1992). Phenotypic variation in Hereditary Non-Polyposis Colon Cancer Syndrome (HNPCC): Association with infiltrative fibromatosis (desmoid tumour). Cancer, 69, 2049-2051.
7. Scott RJ, van der Luijt R., Spycher M, et al. (1995). Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. Gut, 36,731-736.
8. Dobbie Z, Spycher M, Mary J-L, et al. (1996). Correlation between development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J. Med Genet., 33, 274-280
9. Foulkes WD (1995). A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. Q. J. Med., 88, 853-863.
10. Spirio L, Olschwang S, Groden J, et al. (1993). Alleles of the APC gene: An attenuated form of familial polyposis. Cell, 75, 951-957.
11. Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R and Thomas G (1993). Restriction of ocular fundus lesions Io a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell, 75, 959-968.
12. Caspari R, Olschwang S, Friedl W, et al. (1995). Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum. Mol Genet., 4, 337-340.
13. Gayther SA, Wells D, SenGupta SB, et al. (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.
14. Davies DR, Armstrong JG, Thakker N, et al. (1995). Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am. J. Hum. Genet., 57, 1151-1158.
15. Joyce J, Froggatt NJ, Davies R, et al. (1995). Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer. Clin. Genet., 48, 299-303.
16. Eccles DM, van der Luijt R, Breukel C, et al. (1996). Familial desmoid disease with variable and attenuated polyposis due to 3′ mutation in the APC gene. Am. J. Hum. Genet., in press.
17. Dietrich WF, Lander ES, Smith JS, et al. (1993). Genetic identification of Mom-1. a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell, 75, 631-639.
18. Powell SM, Peterson GM and Krush AJ (1993). Molecular diagnosis of familial adenomatous polyposis. N. Engl. J. Med., 329, 1982-1987.
19. Su L-K, Vogelslein B and Kinzler KW (1993). Association of the APC tumour suppressor protein with catenins. Science, 262, 1734-1737.
20. Rubinfeld B, Souza B, Albert I, et al. (1993). Association of the APC gene product with B-catenin. Science, 262, 1731-1734.
21. Munemitsu S, Souza B, Muller O, Albert I, Rubinfeld B and Polakis P (1994). The APC gene product associates with microtubules in vivo and promotes their assembly in vitro. Cancer Res., 54, 3676-3681.
22. Smith KJ, Levy DB, Maupin P, Pollard TD, Vogelstein B and Kinzler KW (1994). Wild-type but not mutant APC associates with the microtubule cytoskeleton. Cancer Res., 54, 3672-3675.
23. Su L-K, Johnson KA, Smith KJ, Hill DE, Vogelstein B and Kinzler KW (1993). Association between wild-type and mutant APC gene products. Cancer Res., 53, 2728-2731.
24. Breukel C, Tops C, van Leeuwen C, et al. (1991). CA repeat polymorphism at the D5S82 locus, proximal to adenomatous polyposis coli (APC). Nucleic Acids Res., 19, 5804.
25. Spirio L, Joslyn G, Nelson L, Leppert M and White R (1991). A CA repeat 30-70 kb downstream from the adenomatous polyposis coli (APC) gene. Nucleic Acids Res., 19, 6348.