Novel p53 germline mutation in a patient with Li-Fraumeni syndrome [5]

Internal Medicine Journal

Volumn 33, Issue 12, 2003, Pages 621-623

  Wong, S S ^a   Lozano, G ^b   Gaff, C L ^a   Gardner, R J M ^a   Strong, L C ^b   Aittomaki K ^c   Lindeman, G J ^a  

^a ROYAL MELBOURNE HOSPITAL   (Australia)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BREAST CANCER; CANCER DIAGNOSIS; CANCER GENETICS; CASE REPORT; CLINICAL FEATURE; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; HUMAN; LETTER; MEDICAL EXAMINATION; MUTATIONAL ANALYSIS; OSTEOSARCOMA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RHABDOMYOSARCOMA;

ADULT; FEMALE; GENES, P53; GERM-LINE MUTATION; HUMANS; LI-FRAUMENI SYNDROME; MALE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 1642430601     PISSN: 14440903     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1445-5994.2003.00487.x     Document Type: Letter

References (7)

1. Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969; 71: 747-52.
2. Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome [Published erratum appears in Human Maturation 2003; 21: 551]. Human Mutation 2003; 21: 313-20.
3. International Agency for Research on Cancer. The IARC p53 Mutation Database. [Cited 2003 October 3.] Available from: URL: http://www.iarc.fr/p53/
4. Soussi T. Institut Curie Database. [Cited 2003 October 3.] Available from: URL: http://p53.curie.fr
5. Birch JM, Alston RD, McNally RJQ, Evans DGR, Kelsey AM, Harris M et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001; 20: 4621-8.
6. Evans DGR, Birch JM, Thorneycroft M, McGown G, Lalloo G, Varley JM. Low rate of TPS3 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. J Med Genet 2002; 39: 941-4.
7. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R et al. Low-penetrance susceptibility to breast cancer due to CHEK2* 1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002; 31: 55-9.