Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene

American Journal of Human Genetics

Volumn 66, Issue 4, 2000, Pages 1403-1406

  Taylor, Michael D ^a   Gokgoz, Nalan ^c   Andrulis, Irene L ^c   Mainprize, Todd G ^a   Drake, James M ^b   Rutka, James T ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 22Q; CONTROLLED STUDY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT DISEASE; MALE; PENETRANCE; POSTERIOR CRANIAL FOSSA TUMOR; PRESCHOOL CHILD; PRIORITY JOURNAL; RHABDOID TUMOR; SYNDROME DELINEATION; TUMOR SUPPRESSOR GENE;

EID: 0033912065     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302833     Document Type: Article

References (16)

1. Biegel JA, Allen CS, Kawasaki K, Shimizu N, Budarf ML, Bell CJ (1996) Narrowing the critical region for a rhabdoid tumor locus in 22q11. Genes Chromosomes Cancer 16: 94-105
2. Biegel JA, Rorke LB, Packer RJ, Emanuel BS (1990) Monosomy 22 in rhabdoid or atypical tumors of the brain. J Neurosurg 73:710-714
3. Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74-79
4. Bigner SH, Friedman HS, Vogelstein B, Oakes WJ, Bigner DD (1990) Amplification of the c-myc gene in human medulloblastoma cell lines and xenografts. Cancer Res 50: 2347-2450 (erratum [1990] Cancer Res 50:3809)
5. Bonnin JM, Rubinstein LJ, Palmer NF, Beckwith JB (1984) The association of embryonal tumors originating in the kidney and in the brain: a report of seven cases. Cancer 54: 2137-2146
6. Cheng SW, Davies KP, Yung E, Beltran RJ, Yu J, Kalpana GV (1999) c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function. Nat Genet 22:102-105
7. Fort DW, Tonk VS, Tomlinson GE, Timmons CF, Schneider NR (1994) Rhabdoid tumor of the kidney with primitive neuroectodermal tumor of the central nervous system: associated tumors with different histologic, cytogenetic, and molecular findings. Genes Chromosomes Cancer 11: 146-152
8. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, et al (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-851
9. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, et al (1995) The molecular basis of Turcot's syndrome. N Engl J Med 332:839-847
10. Li FP, Fraumeni JF Jr (1969) Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 43:1365-1373
11. Lynch HT, Shurin SB, Dahms BB, Izant RJ Jr, Lynch J, Danes BS (1983) Paravertebral malignant rhabdoid tumor in infancy: in vitro studies of a familial tumor. Cancer 52: 290-296
12. Morozov A, Yung E, Kalpana GV (1998) Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region. Proc Natl Acad Sci USA 95:1120-1125
13. Muchardt C, Sardet C, Bourachot B, Onufryk C, Yaniv M (1995) A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm. Nucleic Acids Res 23:1127-1132
14. Parellada JA, Gupta P, Rose W (1998) Rhabdoid tumor of the kidney with primitive neuroectodermal tumor of the central nervous system. Eur J Radiol 28:219-221
15. Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56-65
16. Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, et al (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203-206