A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor

Pediatric Blood and Cancer

Volumn 50, Issue 3, 2008, Pages 701-703

  Stecher, Chalotte W ^a   Grønbaek, Kirsten ^b   Hasle, Henrik ^a,c  

^a AARHUS UNIVERSITY   (Denmark)

^b DANISH CANCER SOCIETY RESEARCH CENTER   (Denmark)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Leydig cell tumor; Li Fraumeni; PNET

Indexed keywords

CARBOPLATIN; CYCLOPHOSPHAMIDE; ETOPOSIDE; PROTEIN P53; TEMOZOLOMIDE; VINCRISTINE;

ARTICLE; BLOOD SAMPLING; BRAIN TUMOR; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CANCER SUSCEPTIBILITY; CASE REPORT; CAUSE OF DEATH; COMBINATION CHEMOTHERAPY; COMPUTER ASSISTED TOMOGRAPHY; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE ASSOCIATION; DISEASE COURSE; FAMILIAL CANCER; FAMILY HISTORY; GENE MUTATION; HISTOLOGY; HUMAN; LEYDIG CELL TUMOR; MALE; NEUROECTODERM TUMOR; ORCHIECTOMY; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT OUTCOME; TUMOR SUPPRESSOR GENE;

ADULT; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CHILD; COMBINED MODALITY THERAPY; CRANIAL IRRADIATION; EXONS; FATAL OUTCOME; FEMALE; GENES, P53; HUMANS; INFANT, NEWBORN; LEYDIG CELL TUMOR; MALE; NEOPLASMS, MULTIPLE PRIMARY; NEUROECTODERMAL TUMORS, PRIMITIVE; ORCHIECTOMY; PEDIGREE; RADIOSURGERY; RNA SPLICE SITES; SUPRATENTORIAL NEOPLASMS; TESTICULAR NEOPLASMS;

EID: 38549175178     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.21074     Document Type: Article

References (17)

1. Lowe SW, Ruley HE, Jacks T, et al. p53-dependent apoptosis modulates the cytotoxicity of anticancer agents. Cell 1993;74:957-967.
2. Garber JE, Goldstein AM, Kantor AF, et al. Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 1991;51:6094-6097.
3. Hisada M, Garber JE, Fung CY, et al. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 1998;90:606-611.
4. Malkin D, Jolly KW, Barbier N, et al. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N Engl J Med 1992;326:1309-1315.
5. Kleihues P, Schauble B, zur HA, et al. Tumors associated with p53 germline mutations: A synopsis of 91 families. Am J Pathol 1997;150:1-13
6. Birch JM, Blair V, Kelsey AM, et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 1998;17:1061-1068.
7. Strong LC, Stine M, Norsted TL. Cancer in survivors of childhood soft tissue sarcoma and their relatives. J Natl Cancer Inst 1987;79:1213-1220.
8. Li FP, Fraumeni JF, Jr., Mulvihill JJ, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res 1988;48:5358-5362.
9. Guldberg P, Nedergaard T, Nielsen HJ, et al. Single-step DGGE-based mutation scanning of the p53 gene: Application to genetic diagnosis of colorectal cancer. Hum Mutat 1997;9:348-355.
10. Felix CA, Strauss EA, D'Amico D, et al. A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm. Oncogene 1993;8:1203-1210.
11. Jolly KW, Malkin D, Douglass EC, et al. Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer. Oncogene 1994;9:97-102.
12. Varley JM, Chapman P, McGown G, et al. Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family. Oncogene 1998;16:3291-3298.
13. Verselis SJ, Rheinwald JG, Fraumeni JF, Jr., et al. Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. Oncogene 2000;19:4230-4235.
14. Chompret A. The Li-Fraumeni syndrome. Biochimie 2002;84:75-82.
15. Frebourg T, Barbier N, Yan YX, et al. Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 1995;56:608-615.
16. Birch JM, Hartley AL, Tricker KJ, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994;54:1298-1304.
17. Olivier M, Goldgar DE, Sodha N, et al. Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype. Cancer Res 2003;63:6643-6650.