Beyond li fraumeni syndrome: Clinical characteristics of families with p53 germline mutations

Journal of Clinical Oncology

Volumn 27, Issue 8, 2009, Pages 1250-1256

  Gonzalez, Kelly D ^a   Noltner, Katie A ^a   Buzin, Carolyn H ^a   Gu, Dongqing ^a   Wen Fong, Cindy Y ^a   Nguyen, Vu Q ^a   Han, Jennifer H ^a   Lowstuter, Katrina ^a   Longmate, Jeffrey ^a   Sommer, Steve S ^a   Weitzel, Jeffrey N ^a  

^a Bioinformatics Group   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53;

ADOLESCENT; ADRENAL CORTEX CARCINOMA; ADULT; AGED; ARTICLE; BRAIN CANCER; BREAST CANCER; CANCER DIAGNOSIS; CANCER RISK; CANCER SUSCEPTIBILITY; CHILD; CHOMPRET CRITERIA; CHOROID PLEXUS TUMOR; CLINICAL FEATURE; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; HUMAN CELL; INFANT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SARCOMA; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADRENAL CORTEX NEOPLASMS; ADULT; AGE OF ONSET; BREAST NEOPLASMS; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, P53; GENOTYPE; GERM-LINE MUTATION; HUMANS; INFANT; LI-FRAUMENI SYNDROME; MALE; MIDDLE AGED;

EID: 62449249871     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2008.16.6959     Document Type: Article

References (27)

1. Li FP, Fraumeni JF Jr: Soft-tissue sarcomas, breast cancer, and other neoplasms: A familial syndrome? Ann Intern Med 71:747-752, 1969
2. Li FP, Fraumeni JF Jr, Mulvihill JJ, et al: A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358-5362, 1988
3. Garber JE, Goldstein AM, Kantor AF, et al: Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 51:6094-6097, 1991
4. Malkin D, Li FP, Strong LC, et al: Germline p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233-1238, 1990
5. Bell DW, Varley JM, Szydlo TE, et al: Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286:2528-2531, 1999
6. Morris SM: A role for p53 in the frequency and mechanism of mutation. Mutat Res 511:45-62, 2002
7. Nagy R, Sweet K, Eng C: Highly penetrant hereditary cancer syndromes. Oncogene 23:6445-6470, 2004
8. Hwang SJ, Lozano G, Amos CI, et al: Germline p53 mutations in a cohort with childhood sarcoma: Sex differences in cancer risk. Am J Hum Genet 72:975-983, 2003
9. 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 54:1298-1304, 1994
10. Eeles RA: Germline mutations in the TP53 gene. Cancer Surv 25:101-124, 1995
11. Chompret A, Abel A, Stoppa-Lyonnet D, et al: Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:4347, 2001
12. Chompret A, Brugieres L, Ronsin M, et al: P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82:1932-1937, 2000
13. Garber JE, Burke EM, Lavally BL, et al: Choroid plexus tumors in the breast cancer-sarcoma syndrome. Cancer 66:2658-2660, 1990
14. Sedlacek Z, Kodet R, Seemanova E, et al: Two Li-Fraumeni syndrome families with novel germline p53 mutations: Loss of the wild-type p53 allele in only 50% of tumours. Br J Cancer 77:1034-1039, 1998
15. Krutilkova V, Trkova M, Fleitz J, et al: Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. Eur J Cancer 41:1597-1603, 2005
16. Varley JM, McGown G, Thorncroft M, et al: Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors. Am J Hum Genet 65:995-1006, 1999
17. Wong P, Verselis SJ, Garber JE, et al: Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology 130:73-79, 2006
18. Birch JM, Alston RD, McNally RJ, et al: Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20:4621-4628, 2001
19. Petitjean A, Mathe E, Kato S, et al: Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database. Hum Mutat 28:622-629, 2007
20. Olivier M, Goldgar DE, Sodha N, et al: Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643-6650, 2003
21. Wooten MD, King DK: Adrenal cortical carcinoma: Epidemiology and treatment with mitotane and a review of the literature. Cancer 72:3145-3155, 1993
22. Varley JM: Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21:313-320, 2003
23. Libe R, Bertherat J: Molecular genetics of adrenocortical tumours, from familial to sporadic diseases. Eur J Endocrinol 153:477-487, 2005
24. Eng C, Hampel H, de la Chapelle A: Genetic testing for cancer predisposition. Annu Rev Med 52:371-400, 2001
25. Strong LC: General keynote: Hereditary cancer: Lessons from Li-Fraumeni syndrome. Gynecol Oncol 88:S4-S7, 2003
26. Varley JM, Evans DG, Birch JM: Li-Fraumeni syndrome: A molecular and clinical review. Br J Cancer 76:1-14, 1997
27. Evans DG, Birch JM, Thorneycroft M, et al: Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. J Med Genet 39:941-944, 2002