Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is a dominantly inherited disorder characterized by the presence of more than 100 adenomatous polyps in the colon and rectum starting in the second decade of life. FAP is associated with extra colonic manifestations, including desmoid tumors.

[1]  A. Wyllie,et al.  APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis. , 1994, British Journal of Cancer.

[2]  J. Delabie,et al.  Some desmoid tumors are characterized by trisomy 8 , 1994, Genes, chromosomes & cancer.

[3]  T. Iwama,et al.  Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. , 1993, Cancer research.

[4]  M. Leppert,et al.  A CA-repeat polymorphism close to the adenomatous polyposis coli (APC) gene offers improved diagnostic testing for familial APC. , 1993, American journal of human genetics.

[5]  A. Sandberg,et al.  Clonal chromosomal abnormalities in desmoid tumors. Implications for histopathogenesis , 1992, Cancer.

[6]  J. Heighway.  PCR primers to convert c-Ki-ras to a four allele RsaI system (KRAS2). , 1991, Nucleic acids research.

[7]  A. Krush,et al.  Gardner syndrome: study and follow-up of a family. , 1991, American journal of medical genetics.

[8]  Y. Nakamura,et al.  CA repeat polymorphism at the D5S82 locus, proximal to adenomatous polyposis coli (APC). , 1991, Nucleic acids research.

[9]  Margaret Robertson,et al.  Identification and characterization of the familial adenomatous polyposis coli gene , 1991, Cell.

[10]  S. Altschul,et al.  Identification of FAP locus genes from chromosome 5q21. , 1991, Science.

[11]  T. Sekiya,et al.  Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[12]  P. Winship,et al.  An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide. , 1989, Nucleic acids research.

[13]  Y. Nakamura,et al.  The gene for familial polyposis coli maps to the long arm of chromosome 5. , 1987, Science.

[14]  F. C. Lucibello,et al.  Localization of the gene for familial adenomatous polyposis on chromosome 5 , 1987, Nature.

[15]  J. Goligher,et al.  The occurrence of desmoids in patients with familial polyposis coli , 1970, The British journal of surgery.