Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers

American Journal of Human Genetics

Volumn 65, Issue 5, 1999, Pages 1342-1348

  Sévenet, Nicolas ^a   Sheridan, Eammon ^b   Amram, Daniel ^c   Schneider, Pascale ^d   Handgretinger, Rupert ^e   Delattre, Olivier ^a  

^a INSTITUT CURIE   (France)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c DEPARTMENT OF NEUROLOGY   (France)

^d HÔPITAL CHARLES NICOLLE   (France)

^e UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER SUSCEPTIBILITY; CASE REPORT; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; INFANT; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; RHABDOID TUMOR;

EID: 2042432488     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302639     Document Type: Article

References (38)

1. Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumor. Cancer 41:1937-1948
2. 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
3. Biegel JA, Burk CD, Parmiter AH, Emanuel BS (1992) Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor. Genes Chromosomes Cancer 5:104-108
4. Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid rhabdoid tumors. Cancer Res 59: 74-79
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. Burger PC, Yu IT, Tihan T, Friedman HS, Strother DR, Kepner JL, Duffner PK, et al (1998) Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma, a pediatric oncology group study. Am J Surg Pathol 22:1083-1092
7. Carlson KM, Bracamontes J, Jackson CE, Clark R, Lacroix A, Wells SA Jr, Goodfellow PJ (1994) Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet 55:1076-1082
8. Chidambaram B, Santhosh V, Shankar SK (1998) Identical twins with medulloblastoma occurring in infancy. Childs Nerv Syst 14:421-425
9. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
10. Douglass EC, Valentine M, Rowe ST, Parham DM, Wilimas JA, Sanders JM, Houghton PJ (1990) Malignant rhabdoid tumor: a highly malignant childhood tumor with minimal karyotypic changes. Genes Chromosomes Cancer 2: 210-216
11. Dryja TP, Mukai S, Petersen R, Rapaport JM, Walton D, Yandell DW (1989) Parental origin of mutations of the retinoblastoma gene. Nature 339:556-558
12. 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
13. Hisada M, Garber JE, Fung CY, Fraumeni JF, Li FP (1998) Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 90:606-611
14. Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, et al (1990) Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 343:558-559
15. Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (1994) Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5. Science 266:2002-2006
16. Kleihues P, Schäuble B, Hausen AZ, Esteve J, Ohgaki H (1997) Tumours associated with p53 germline mutations, a synopsis of 91 families. Am J Pathol 150:1-13
17. Knudson AG (1996) Hereditary cancer: two hits revisited. J Cancer Res Clin Oncol 122:135-140
18. Lynch HT, Shurin SB, Dahms BD, Izant RJ, Lynch J, Danes BS (1983) Paravertebral malignant rhabdoid tumor in infancy, in vitro studies of a familial tumor. Cancer 52: 290-296
19. Matsumura H, Yoshimine T, Yamamoto S, Maruno M, Hayakawa T, Ono Y, Kondoh N, et al (1997) Single solitary metastasis of the slowly progressive type of renal cell carcinoma to the choroid plexus - case report. Neurol Med Chir (Tokyo) 37:916-919
20. Moschovi M, Sotiris Y, Prodromou N, Tsangaris GT, Constantinidou Van-Vliet C, Kalpini-Mavrou A, Tzortzatou-Stathopoulou F (1998) Familial medulloblastoma. Pediatr Hematol Oncol 15:421-424
21. 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
22. 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
23. Parham DM, Weeks DA, Beckwith JB (1994) The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. Am J Surg Pathol 18:1010-1029
24. Raila FA, Bottoms WT, Fratkin JD (1998) Solitary choroid plexus metastasis from a renal cell carcinoma. South Med J 91:1159-1162
25. Richards FM, Payne SJ, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER (1995) Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Genet 4:2139-2143
26. Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumours of infancy and childhood: definition of an entity. J Neurosurg 85:56-65
27. Rosty C, Peter M, Zucman J, Validire P, Delattre O, Aurias A (1998) Cytogenetic and molecular analysis of a t(1;22) (p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22. Genes Chromosomes Cancer 21:82-89
28. Schofield DE, Beckwith JB, Sklar J (1996) Loss of heterozygosity at chromosome regions 22q11-12 and 11p15.5 in renal rhabdoid tumors. Genes Chromosomes Cancer 15: 10-17
29. Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, Houdent C, et al (1997) Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Am J Hum Genet 60:233-237
30. Sévenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O. Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. Hum Mol Genet (in press)
31. Tijssen CC (1991) Familial medulloblastoma in siblings: report in one family and review of the literature. Surg Neurol 36: 234
32. Underhill PA, Jin L, Lin AA, Mehdi SQ, Jenkins T, Vollrath D, Davis RW, et al (1997) Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res 7:996-1005
33. Varley JM, Evans DGR, Birch JM (1997) Li-Fraumeni syndrome - a molecular and clinical review. Br J Cancer 76: 1-14
34. Versteege I, Sévenet 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
35. Wade PA, Wolffe AP (1999) Transcriptional regulation: SWItching circuitry. Curr Biol 25:R221-R224
36. White FV, Dehner LP, Belchis DA, Conard K, Davis MM, Stocker JT, Zuppan CW, et al (1999) Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. Am J Surg Pathol 23:249-256
37. Wick MR, Ritter JH, Dehner LP (1995) Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. Sem Diagn Pathol 12:233-248
38. Zhu XP, Dunn JM, Phillips RA, Goddard AD, Paton KE, Becker A, Gallie BL (1989) Preferential germline mutation of the paternal allele in retinoblastoma. Nature 340: 312-313