Description:
TURCOT SYNDROME
FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
ENGLISH
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Gene |
APC |
| Chromosomal Location |
5q21-q22 |
| Allelic Variant 1 |
611731.0022; TURCOT SYNDROME WITH MEDULLOBLASTOMA |
| Identified Mutation |
GLN215TER; Hamilton et al. [New Eng. J. Med. 332: 839-847 (1995)] studied 14 families with Turcot syndrome and the family originally described by Turcot et al. [Dis. Colon Rectum 2: 465-468, (1959)]. Genetic abnormalities were identified in 13 of the 14 families. Germline APC mutations were detected in 10. The predominant brain tumor in these 10 families was medulloblastoma (11 of 14 patients, or 79%). In a formal risk analysis for brain tumors in familial adenomatous polyposis, Hamilton et al. (1995) found a relative risk of cerebellar medulloblastoma 92 times that found in the general population. In the other 4 of the 14 families, the type of brain tumor was glioblastoma. The glioblastomas and colorectal tumors in 3 of these 4 families and in the original family studied by Turcot et al. (1959) had replication errors characteristic of hereditary nonpolyposis colorectal cancer. In their family 2, Hamilton et al. (1995) found a truncating point mutation in APC at codon 215; a CAG-to-TAG nonsense mutation resulted in gln215-to-ter. |
| Remarks |
Many affected members in pedigree; 46, XX; 10% of cells show random chromosome loss; 18% of cells show chromosome breaks; centromeres are fragile on chromosomes #1, #9, and #16; donor subject has a C>T change at nucleotide 643 in exon 5 of the APC gene (643C>T) resulting in the conversion of a glutamine at codon 215 to a stop codon [Gln215Ter (Q215X)] |
|