Somatic mutations of KIT in familial testicular germ cell tumours

British Journal of Cancer

Volumn 90, Issue 12, 2004, Pages 2397-2401

  Rapley, E A ^a   Hockley, S ^a   Warren, W ^a   Johnson, L ^a   Huddart, R ^a   Crockford, G ^b   Forman, D ^b   Leahy, M G ^b   Oliver, D T ^b   Tucker, K ^d   Friedlander, M ^d   Phillips, K A ^e   Hogg, D ^f   Jewett, M A S ^f   Lohynska, R ^g   Daugaard, G ^h   Richard, S ⁱ   Heidenreich, A ^j   Geczi, L ^k   Bodrogi, I ^k   Olah, E ^k   Ormiston, W J ^l   Daly, P A ^l   Looijenga, L H J ^m   Guilford, P ⁿ   Aass, N ^o   Fossa S D ^o   Heimdal, K ^o   Tjulandin, S A ^p   Liubchenko, L ^p   Stoll, H ^q   Weber, W ^q   Einhorn, L ^r   Weber, B L ^s   McMaster, M ^t   Greene, M H ^t   Bishop, D T ^b   Easton, D ^c   Stratton, M R ^a   more..

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e PETER MACCALLUM CANCER CENTRE   (Australia)

^f UNIVERSITY OF TORONTO   (Canada)

^g CHARLES UNIVERSITY   (Czech Republic)

^h Rigshospitalet   (Denmark)

ⁱ BICÊTRE HOSPITAL   (France)

^j PHILIPPS UNIVERSITY MARBURG   (Germany)

^k NATIONAL INSTITUTE OF ONCOLOGY   (Hungary)

^l ST JAMES S HOSPITAL   (Ireland)

^m JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

ⁿ UNIVERSITY OF OTAGO   (New Zealand)

^o OSLO UNIVERSITY HOSPITAL   (Norway)

^p N N BLOKHIN RUSSIAN CANCER RESEARCH CENTER   (Russian Federation)

^q Clinical Cancer Research Unit   (Switzerland)

^r INDIANA UNIVERSITY   (United States)

^s UNIVERSITY OF PENNSYLVANIA   (United States)

^t NATIONAL CANCER INSTITUTE   (United States)

more..

Author keywords

KIT; Testicular germ cell tumours

Indexed keywords

STEM CELL FACTOR; STEM CELL FACTOR RECEPTOR;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; EMBRYO DEVELOPMENT; EXON; FAMILIAL CANCER; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GERM CELL TUMOR; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIMORDIAL GERM CELL; PRIORITY JOURNAL; SOMATIC MUTATION; TESTIS CANCER; GENETICS; MUTATION; NEOPLASM; PATHOLOGY; PEDIGREE; TESTIS TUMOR;

DNA MUTATIONAL ANALYSIS; EXONS; GERM-LINE MUTATION; HUMANS; MALE; NEOPLASMS, GERM CELL AND EMBRYONAL; PEDIGREE; PROTO-ONCOGENE PROTEINS C-KIT; TESTICULAR NEOPLASMS;

EID: 3042696867     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.bjc.6601880     Document Type: Article

References (13)

1. Bokemeyer C, Kuczyk MA, Dunn T, Serth J, Hartmann K, Jonasson J, Pietsch T, Jonas U, Schmoll HJ (1996) Expression of stem-cell factor and its receptor c-kit protein in normal testicular tissue and malignant germ-cell tumours. J Cancer Res Clin Oncol 122: 301-306
2. Ferlay J, Bray P, Pisani P, Parkin DM (2001) GLOBOCAN 2000: Cancer Incidence, Mortality and Prevalence Worldwide, Version 1, IARC CancerBase No.5. Lyon: IARC Press
3. Forman D, Oliver RT, Brett AR, Marsh SG, Moses JH, Bodmer JG, Chilvers CE, Pike MC (1992) Familial testicular cancer: a report of the UK family register, estimation of risk and an HLA class 1 sib-pair analysis. Br J Cancer 65: 255-262
4. Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90: 10325-10329
5. Heimdal K, Olsson H, Tretli S, Flodgren P, Borresen AL, Fossa SD (1996) Familial testicular cancer in Norway and southern Sweden. Br J Cancer 73:964-969
6. Looijenga LH, de Leeuw H, van Oorschot M, Van Gurp RJ, Stoop H, Gillis AJ, de Gouveia de Brazoa CA, Weber RF, van Dijk T, von Lindren M, Lajos G, Olah E, Nesland JM, Fossa SD, Oosterhuis JW (2003) Stem cell factor receptor (c-KIT) codon 816 transversions predict development of bilateral testicular germ cell tumors. Cancer Res 63: 7674-7678
7. Mauduit C, Hamamah S, Benahmed M (1999) Stem cell factor/c-kit system in spermatogenesis. Hum Reprod Update 5: 535-545
8. Pignon JM, Giraudier S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, Vernant JP, Tulliez M (1997) A new c-kit mutation in a case of aggressive mast cell disease. Br J Haematol 96: 374-376
9. Przygodzki RM, Hubbs AE, Zhao FQ, O'Leary TJ (2002) Primary Mediastinal Seminomas: Evidence of Single and Multiple KIT Mutations. Lab Invest 82: 1369-1375
10. Rapley EA, Crockford GP, Teare D, Biggs P, Seal S, Barfoot R, Edwards S, Hamoudi R, Heimdal K, Fossa SD, Tucker K, Donald J, Collins F, Friedlander M, Hogg D, Goss P, Heidenreich A, Ormiston W, Daly PA, Forman D, Oliver TD, Leahy M, Huddart R, Cooper CS, Bodmer JG (2000) Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet 24: 197-200
11. Rubin BP, Singer S, Tsao C, Duensing A, Lux ML, Ruiz R, Hibbard MK, Chen CJ, Xiao S, Tuveson DA, Demetri GD, Fletcher CDM, Fletcher JA (2001) KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 61: 8118-8121
12. Strohmeyer T, Reese D, Press M, Ackermann R, Hartmann M, Slamon D (1995) Expression of the c-kit proto-oncogene and its ligand stem cell factor (SCF) in normal and malignant human testicular tissue. J Urol 153: 511-515
13. Tian Q, Frierson Jr HF, Krystal GW, Moskaluk CA (1999) Activating c-kit gene mutations in human germ cell tumors. Am J Pathol 154: 1643-1647