Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian breast cancer family study

Cancer Research

Volumn 70, Issue 12, 2010, Pages 4795-4800

  Mouchawar, Judy ^a   Korch, Christopher ^b   Byers, Tim ^b   Pitts, Todd M ^b   Li, Efang ^b   McCredie, Margaret R E ^c   Giles, Graham G ^d   Hopper, John L ^d   Southey, Melissa C ^d,e  

^a KAISER PERMANENTE   (United States)

^b UNIVERSITY OF COLORADO CANCER CENTER   (United States)

^c UNIVERSITY OF OTAGO   (New Zealand)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLYCINE; PROTEIN P53;

ADULT; ARTICLE; AUSTRALIA; BREAST CANCER; CANCER INVASION; CONTROLLED STUDY; DNA SEQUENCE; EARLY CANCER; EXON; FAMILY HISTORY; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GERMPLASM; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OVARY CANCER; POPULATION RESEARCH; PRIORITY JOURNAL; RELATIVE; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT;

ADULT; AUSTRALIA; BREAST NEOPLASMS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; LI-FRAUMENI SYNDROME; MIDDLE AGED; MOLECULAR EPIDEMIOLOGY; OVARIAN NEOPLASMS; POPULATION GROUPS; TUMOR SUPPRESSOR PROTEIN P53;

EID: 77953734977     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-09-0851     Document Type: Article

References (29)

1. Birch JM, Alston RD, McNally RJ, et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001;20:4621-8.
2. Li FP, Fraumeni JF, Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969;71:747-52.
3. 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;54:1298-304.
4. Bougeard G, Baert-Desurmont S, Tournier I, et al. Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. J Med Genet 2006;43:531-3.
5. Bond GL, Hirshfield KM, Kirchhoff T, et al. MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent manner. Cancer Res 2006;66:5104-10.
6. Prosser J, Elder A, Condie A, et al. Mutations in p53 do not account for heritable breast cancer: a study in five affected families. Br J Cancer 1991;63:181-4.
7. Borreson AL, Andersen TI, Garber J, et al. Screening for germline TP53 mutations in breast cancer patients. Cancer Res 1992;52:3234-6.
8. 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 2002;39:941-4.
9. Varley J, McGown G, Thorncroft M, et al. Germ-line mutations of the TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res 1997;57:3245-52. (Pubitemid 27351742)
10. Dite GS, Jenkins MA, Southey MC, et al. Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst 2003;95:448-57.
11. Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet 2008;40:17-22.
12. Byrnes GB, Southey MC, Hopper JL. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? Breast Cancer Res 2008;10:208-14.
13. Hopper JL, Giles GG, McCredie MR, Boyle P. Background, rationale and protocol for a case-control-family study of breast cancer. Breast 1994;3:79-86. (Pubitemid 24158996)
14. John EM, Hopper JL, Beck JC, et al. The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res 2004;6:R375-89.
15. Neuhausen SL, Ozcelik H, Southey MC, et al. BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research. Breast Cancer Res Treat 2009;116:379-86.
16. Southey MC, Tesoriero AA, Andersen CR, et al. BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer. Br J Cancer 1999;79:34-9.
17. Smith LD, Tesoriero AA, Ramus SJ, et al. BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study. Eur J Cancer 2007;43:823-7.
18. Bernstein JL, Teraoka S, Southey MC, et al. Population-based estimates of breast cancer risks associated with ATM gene variants c. 7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Hum Mutat 2006;27:1122-8.
19. Chompret A, Abel A, Stoppa-Lyonnet D, et al. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 2001;38:43-47.
20. Olivier M, Eeles R, Hollstein M, Khan MA, Harris CC, Hainaut P. The IARC TP53 database: new online mutation analysis and recommendations to users. Hum Mutat 2002;19:607-14. (Pubitemid 34556481)
21. 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 2007;28:622-9. (Pubitemid 46744292)
22. Hahn M, Serth J, Fislage R, et al. Polymerase chain reaction detection of a highly polymorphic VNTR segment in intron 1 of the human p53 gene. Clin Chem 1993;39:549-50. (Pubitemid 23099034)
23. Schouten JP, McElgunn CJ, Waaijer R, Zwiynenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
24. Soudon J, Caron de Fromentel C, Bernard O, Larsen CJ. Inactivation of the p53 gene expression by a splice donor site mutation in a human T-cell leukemia cell line. Leukemia 1991;5:917-20.
25. Wong SS, Lozano G, Gaff CL, et al. Novel p53 germline mutation in a patient with Li-Fraumeni syndrome. Intern Med J 2003;33:621-3. (Pubitemid 38121816)
26. Sidransky D, Tokino T, Helzlsouer K, et al. Inherited p53 gene mutations in breast cancer. Cancer Res 1992;52:2984-6.
27. Lalloo F, Varley J, Moran A, et al. BRCA1, BRCA2, and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer 2006;42:1143-50.
28. Walsh T, Casadei S, Coats KH, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006;295:1379-88.
29. Gonzales KD, Noltner KA, Buzin CH, et al. Beyond Li Fraumeni Syndrome: Clinical characteristics of families with p53 germline mutations. J Clin Oncol 2009;27:1250-6.