Skip to main content

Advertisement

SpringerLink
Log in

Genotype Phenotype Correlation in Li-Fraumeni Syndrome Kindreds and its Implications for Management

  • Published:
Familial Cancer Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. FP Li JF Fraumeni SuffixJr. JJ Mulvihill WA Blattner MG Dreyfus MA Tucker et al. (1988) ArticleTitleA cancer family syndrome in twenty-four kindreds Cancer Res 48 IssueID18 5358–62 Occurrence Handle3409256 Occurrence Handle1:STN:280:BieA3M%2Fpt1A%3D

    PubMed  CAS  Google Scholar 

  2. P Kleihues B Schauble HA zur et al. (1997) ArticleTitleTumors associated with p53 germline mutations: A synopsis of 91 families Am J Pathol 150 IssueID1 1–13 Occurrence Handle9006316 Occurrence Handle1:STN:280:ByiC2MfpslE%3D

    PubMed  CAS  Google Scholar 

  3. M Olivier DE Goldgar N Sodha et al. (2003) ArticleTitleLi-Fraumeni and related syndromes: Correlation between tumour type, family structure, and TP53 genotype Cancer Res 63 IssueID20 6643–50 Occurrence Handle14583457 Occurrence Handle1:CAS:528:DC%2BD3sXosVGgurs%3D

    PubMed  CAS  Google Scholar 

  4. DW Bell JM Varley TE Szydlo DH Kang DC Wahrer KE Shannon et al. (1999) ArticleTitleHeterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome Science 286 IssueID5449 2528–31 Occurrence Handle10617473 Occurrence Handle1:CAS:528:DC%2BD3cXntlGh Occurrence Handle10.1126/science.286.5449.2528

    Article  PubMed  CAS  Google Scholar 

  5. N Sodha RS Houlston S Bullock MA Yuille C Chu G Turner et al. (2002) ArticleTitleIncreasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome Hum Mutat 20 IssueID6 460–2 Occurrence Handle12442270 Occurrence Handle1:CAS:528:DC%2BD38Xps1yjs7k%3D Occurrence Handle10.1002/humu.10136

    Article  PubMed  CAS  Google Scholar 

  6. H Yoon S Liyanarachchi F. A Wright S Liyanarachchi R Davuluri J. C Lockman A Chapelle Particlede la et al. (2002) ArticleTitleGene expression profiling of isogenic cells with different TP53 gene dosage reveals numerous genes that are affected by TP53 dosage and identifies CSPG2 as a direct target of p53 Proc Nat Acad Sci 9 15632–7 Occurrence Handle10.1073/pnas.242597299

    Article  Google Scholar 

  7. A Chompret L Brugieres M Ronsin et al. (2000) ArticleTitleP53 germline mutations in childhood cancers and cancer risk for carrier individuals Br J Cancer 82 IssueID12 1932–7 Occurrence Handle10864200 Occurrence Handle10.1054/bjoc.2000.1167

    Article  PubMed  Google Scholar 

  8. RC Ribeiro F Sandrini B Figueiredo GP Zambetti E Micahlkiewicz AR Lafferty et al. (2001) ArticleTitleAn inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma Proc Natl Acad Sci USA 98 IssueID16 9330–5 Occurrence Handle11481490 Occurrence Handle1:CAS:528:DC%2BD3MXlvFSrsLk%3D Occurrence Handle10.1073/pnas.161479898

    Article  PubMed  CAS  Google Scholar 

  9. SJ Plummer M Santibanez-Koref T Kurosaki et al. (1994) ArticleTitleA germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family Oncogene 9 IssueID11 3273–80 Occurrence Handle7936651 Occurrence Handle1:CAS:528:DyaK2cXmvFChtr4%3D

    PubMed  CAS  Google Scholar 

  10. JM Varley G McGown M Thorncroft et al. (1996) ArticleTitleA previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome Oncogene 12 IssueID11 2437–42 Occurrence Handle8649785 Occurrence Handle1:CAS:528:DyaK28XjvFCmtbo%3D

    PubMed  CAS  Google Scholar 

  11. ME Lomax DM Barnes R Gilchrist et al. (1997) ArticleTitleTwo functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family Oncogene 14 IssueID15 1869–74 Occurrence Handle9150393 Occurrence Handle1:CAS:528:DyaK2sXjtVGru78%3D Occurrence Handle10.1038/sj.onc.1201133

    Article  PubMed  CAS  Google Scholar 

  12. TS Davison P Yin E Nie et al. (1998) ArticleTitleCharacterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome Oncogene 17 IssueID5 651–6 Occurrence Handle9704931 Occurrence Handle1:CAS:528:DyaK1cXlsV2gsrc%3D Occurrence Handle10.1038/sj.onc.1202062

    Article  PubMed  CAS  Google Scholar 

  13. P May E May (1999) ArticleTitleTwenty years of p53 research: structural and functional aspects of the p53 protein Oncogene 18 IssueID53 7621–36 Occurrence Handle10618702 Occurrence Handle1:CAS:528:DC%2BD3cXmt1Skuw%3D%3D Occurrence Handle10.1038/sj.onc.1203285

    Article  PubMed  CAS  Google Scholar 

  14. JM Varley M Thorncroft G McGown et al. (1997) ArticleTitleA detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene Oncogene 14 IssueID7 865–71 Occurrence Handle9047394 Occurrence Handle1:CAS:528:DyaK2sXhs1GrsLw%3D Occurrence Handle10.1038/sj.onc.1201041

    Article  PubMed  CAS  Google Scholar 

  15. JM Birch V Blair AM Kelsey DG Evans M Harris KJ Tricker et al. (1998) ArticleTitleCancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome Oncogene 17 IssueID9 1061–8 Occurrence Handle9764816 Occurrence Handle1:CAS:528:DyaK1cXmt1arur8%3D Occurrence Handle10.1038/sj.onc.1202033

    Article  PubMed  CAS  Google Scholar 

  16. D Dittmer S Pati G Zambetti S Chu AK Teresky M Moore et al. (1993) ArticleTitleGain of function mutations in p53 Nat Genet 4 IssueID1 42–6 Occurrence Handle8099841 Occurrence Handle1:CAS:528:DyaK3sXkt1ajsbo%3D Occurrence Handle10.1038/ng0593-42

    Article  PubMed  CAS  Google Scholar 

  17. D Sidransky T Tokino K Helzlsouer B Zehnbauer G Rausch B Shelton et al. (1992) ArticleTitleInherited p53 gene mutations in breast cancer Cancer Res 52 IssueID10 2984–6 Occurrence Handle1581912 Occurrence Handle1:CAS:528:DyaK38Xkt1equ74%3D

    PubMed  CAS  Google Scholar 

  18. DP Lane LV Crawford (1979) ArticleTitleT antigen is bound to a host protein in SV40-transformed cells Nature 278 IssueID5701 261–3 Occurrence Handle218111 Occurrence Handle1:CAS:528:DyaE1MXkvV2gtr0%3D Occurrence Handle10.1038/278261a0

    Article  PubMed  CAS  Google Scholar 

  19. JB Little (2003) ArticleTitleGenomic instability and bystander effects: A historical perspective Oncogene 22 IssueID45 6978–87 Occurrence Handle14557801 Occurrence Handle1:CAS:528:DC%2BD3sXotVWktL8%3D Occurrence Handle10.1038/sj.onc.1206988

    Article  PubMed  CAS  Google Scholar 

  20. L Liang C Shao L Deng MS Mendonca PJ Stambrook JA Tischfield et al. (2002) ArticleTitleRadiation-induced genetic instability in vivo depends on p53 status Mutat Res 502 IssueID1–2 69–80 Occurrence Handle11996974 Occurrence Handle1:CAS:528:DC%2BD38XjsVSrurg%3D

    PubMed  CAS  Google Scholar 

  21. K Suzuki M Ojima S Kodama M Watanabe (2003) ArticleTitleRadiation-induced DNA damage and delayed induced genomic instability Oncogene 22 IssueID45 6988–93 Occurrence Handle14557802 Occurrence Handle1:CAS:528:DC%2BD3sXotVWkt7s%3D Occurrence Handle10.1038/sj.onc.1206881

    Article  PubMed  CAS  Google Scholar 

  22. JW Shay G Tomlinson MA Piatyszek LS Gollahon (1995) ArticleTitleSpontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome Mol Cell Biol 15 IssueID1 425–32 Occurrence Handle7799951 Occurrence Handle1:CAS:528:DyaK2MXislamtLg%3D

    PubMed  CAS  Google Scholar 

  23. T Tsutsui T Fujino S Kodama MA Tainsky Boyd J JC Barrett et al. (1995) ArticleTitleAflatoxin B1-induced immortalization of cultured skin fibroblasts from a patient with Li-Fraumeni syndrome Carcinogenesis 16 IssueID1 25–34 Occurrence Handle7834802 Occurrence Handle1:CAS:528:DyaK2MXks1eisb0%3D

    PubMed  CAS  Google Scholar 

  24. JM Varley DG Evans JM Birch (1997) ArticleTitleLi-Fraumeni syndrome–a molecular and clinical review Br J Cancer 76 IssueID1 1–14 Occurrence Handle9218725 Occurrence Handle1:CAS:528:DyaK2sXkslaiu7Y%3D

    PubMed  CAS  Google Scholar 

  25. PK Liu E Kraus TA Wu et al. (1996) ArticleTitleAnalysis of genomic instability in Li-Fraumeni fibroblasts with germline p53 mutations Oncogene 12 IssueID11 2267–78 Occurrence Handle8649766 Occurrence Handle1:CAS:528:DyaK28XjvFCmt7s%3D

    PubMed  CAS  Google Scholar 

  26. D Delia K Goi S Mizutani T Yamada A Aiello E Fontnella et al. (1997) ArticleTitleDissociation between cell cycle arrest and apoptosis can occur in Li-Fraumeni cells heterozygous for p53 gene mutations Oncogene 14 IssueID18 2137–47 Occurrence Handle9174049 Occurrence Handle1:CAS:528:DyaK2sXjs1Gnt70%3D Occurrence Handle10.1038/sj.onc.1201050

    Article  PubMed  CAS  Google Scholar 

  27. SW Lowe S Bodis A McClatchey et al. (1994) ArticleTitlep53 status and the efficacy of cancer therapy in vivo Science 266 IssueID5186 807–10 Occurrence Handle7973635 Occurrence Handle1:CAS:528:DyaK2MXitVGgt7w%3D

    PubMed  CAS  Google Scholar 

  28. SW Lowe HE Ruley T Jacks DE Housman (1993) ArticleTitlep53-dependent apoptosis modulates the cytotoxicity of anticancer agents Cell 74 IssueID6 957–67 Occurrence Handle8402885 Occurrence Handle1:CAS:528:DyaK3sXlvFGhtLk%3D Occurrence Handle10.1016/0092-8674(93)90719-7

    Article  PubMed  CAS  Google Scholar 

  29. R Heyn V Haeberlen WA Newton et al. (1993) ArticleTitleSecond malignant neoplasms in children treated for rhabdomyosarcoma. Intergroup Rhabdomyosarcoma Study Committee J Clin Oncol 11 IssueID2 262–70 Occurrence Handle8426203 Occurrence Handle1:STN:280:ByyC2cjosFw%3D

    PubMed  CAS  Google Scholar 

  30. M Hisada JE Garber CY Fung et al. (1998) ArticleTitleMultiple primary cancers in families with Li-Fraumeni syndrome J Natl Cancer Inst 90 IssueID8 606–11 Occurrence Handle9554443 Occurrence Handle1:STN:280:DyaK1c3htlWjtA%3D%3D Occurrence Handle10.1093/jnci/90.8.606

    Article  PubMed  CAS  Google Scholar 

  31. JM Limacher T Frebourg S Natarajan-Ame JP Bergerat (2001) ArticleTitleTwo metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome Int J Cancer 96 IssueID4 238–42 Occurrence Handle11474498 Occurrence Handle1:CAS:528:DC%2BD3MXlvFSns7c%3D Occurrence Handle10.1002/ijc.1021

    Article  PubMed  CAS  Google Scholar 

  32. C Nutting RS Camplejohn R Gilchrist et al. (2000) ArticleTitleA patient with 17 primary tumours and a germ line mutation in TP53: Tumour induction by adjuvant therapy? Clin Oncol (R Coll Radiol) 2 IssueID5 300–4

    Google Scholar 

  33. L Tabar CJ Fagerberg A Gad et al. (1985) ArticleTitleReduction in mortality from breast cancer after mass screening with mammography. Randomised trial from the Breast Cancer Screening Working Group of the Swedish National Board of Health and Welfare Lancet 1 IssueID8433 829–32 Occurrence Handle2858707 Occurrence Handle1:STN:280:BiqC283lsFI%3D Occurrence Handle10.1016/S0140-6736(85)92204-4

    Article  PubMed  CAS  Google Scholar 

  34. L Tabar G Fagerberg HH Chen et al. (1995) ArticleTitleEfficacy of breast cancer screening by age. New results from the Swedish Two-County Trial Cancer 75 IssueID10 2507–17 Occurrence Handle7736395 Occurrence Handle1:STN:280:ByqB2Mvktl0%3D

    PubMed  CAS  Google Scholar 

  35. Breast-cancer screening with mammography in women aged 40–49 years. Swedish Cancer Society and the Swedish National Board of Health and Welfare. Int J Cancer 1996; 68(6): 693–699

  36. J Law (1997) ArticleTitleCancers detected and induced in mammographic screening: new screening schedules and younger women with family history Br J Radiol 70 62–9 Occurrence Handle9059297 Occurrence Handle1:STN:280:ByiB3M3ksVU%3D

    PubMed  CAS  Google Scholar 

  37. E Warner DB Plewes RS Shumak et al. (2001) ArticleTitleComparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer J Clin Oncol 19 IssueID15 3524–31 Occurrence Handle11481359 Occurrence Handle1:STN:280:DC%2BD3MvjtlOmug%3D%3D

    PubMed  CAS  Google Scholar 

  38. MO Leach CR Boggis AK, Dixon et al. (2005) ArticleTitleScreening with magnetic resonance imaging and mammograpy of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS) Lancet 365 IssueID9473 1769–78 Occurrence Handle15910949 Occurrence Handle1:STN:280:DC%2BD2M3mvFCqtg%3D%3D Occurrence Handle10.1016/S0140-6736(05)66481-1

    Article  PubMed  CAS  Google Scholar 

  39. MC Liu EP Gelmann (2002) ArticleTitleP53 gene mutations: Case study of a clinical marker for solid tumors Semin Oncol 29 IssueID3 246–57 Occurrence Handle12063677 Occurrence Handle1:CAS:528:DC%2BD38Xltlaqt7o%3D Occurrence Handle10.1053/sonc.2002.32900

    Article  PubMed  CAS  Google Scholar 

  40. SA Narod JS Brunet P Ghadirian et al. (2000) ArticleTitleTamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: A case–control study. Hereditary Breast Cancer Clinical Study Group Lancet 356 IssueID9245 1876–81 Occurrence Handle11130383 Occurrence Handle1:CAS:528:DC%2BD3cXovFWjsL8%3D Occurrence Handle10.1016/S0140-6736(00)03258-X

    Article  PubMed  CAS  Google Scholar 

  41. SD Hursting SN Perkins DC Haines et al. (1995) ArticleTitleChemoprevention of spontaneous tumorigenesis in p53-knockout mice Cancer Res 55 IssueID18 3949–53 Occurrence Handle7664260 Occurrence Handle1:CAS:528:DyaK2MXotV2msL0%3D

    PubMed  CAS  Google Scholar 

  42. B Fisher JP Costantino DL Wickerham et al. (1998) ArticleTitleTamoxifen for prevention of breast cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study J Natl Cancer Inst 90 IssueID18 1371–88 Occurrence Handle9747868 Occurrence Handle1:CAS:528:DyaK1cXmtlelurs%3D Occurrence Handle10.1093/jnci/90.18.1371

    Article  PubMed  CAS  Google Scholar 

  43. DG Evans F Lalloo (2002) ArticleTitleRisk assessment and management of high risk familial breast cancer J Med Genet 39 IssueID12 865–71 Occurrence Handle12471197 Occurrence Handle1:STN:280:DC%2BD38jgvFemsg%3D%3D Occurrence Handle10.1136/jmg.39.12.865

    Article  PubMed  CAS  Google Scholar 

  44. TR Rebbeck T Friebel HT Lynch et al. (2004) ArticleTitleBilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: The PROSE Study Group J Clin Oncol 22 IssueID6 1055–62 Occurrence Handle14981104 Occurrence Handle10.1200/JCO.2004.04.188

    Article  PubMed  Google Scholar 

  45. P Hopwood A Lee A Shenton et al. (2000) ArticleTitleClinical follow-up after bilateral risk reducing (ȁ8prophylactic’) mastectomy: Mental health and body image outcomes Psychooncology 9 IssueID6 462–72 Occurrence Handle11180581 Occurrence Handle1:STN:280:DC%2BD3M7jtVKltw%3D%3D Occurrence Handle10.1002/1099-1611(200011/12)9:6<462::AID-PON485>3.0.CO;2-J

    Article  PubMed  CAS  Google Scholar 

  46. OI Van H Meijers-Heijboer LN Lodder et al. (2003) ArticleTitleLong-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: A 5-year follow-up study J Clin Oncol 21 IssueID20 3867–74 Occurrence Handle10.1200/JCO.2003.10.100

    Article  Google Scholar 

  47. EL Snyder BR Meade CC Saenz SF Dowdy (2004) ArticleTitleTreatment of terminal peritoneal carcinomatosis by a transducible p53-activating peptide PLoS Biol 2 IssueID2 E36 Occurrence Handle14966535 Occurrence Handle10.1371/journal.pbio.0020036

    Article  PubMed  Google Scholar 

  48. D Lane (2004) ArticleTitleCuring cancer with p53 N Engl J Med 350 IssueID26 2711–2 Occurrence Handle15215489 Occurrence Handle1:CAS:528:DC%2BD2cXltFGnsLo%3D Occurrence Handle10.1056/NEJMcibr041288

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Cancer Genetics Unit and Academic Unit of Radiotherapy, Royal Marsden NHS Foundation Trust, SW3 6JJ, London, UK

    R. N. Moule

  2. Meyerstein Institute of Oncology, Middlesex Hospital, London, UK

    R. N. Moule

  3. Sections of Cancer Genetics and Molecular Carcinogenesis, Institute of Cancer Research, SM2 5NG, Sutton Surrey, UK

    S. G. Jhavar

  4. Section of Cancer Genetics, Institute of Cancer Research, Cotswold Road, SM2 5NG, Sutton Surrey, UK

    R. A. Eeles

Authors
  1. R. N. Moule
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. G. Jhavar
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. A. Eeles
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to R. A. Eeles.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Moule, R.N., Jhavar, S.G. & Eeles, R.A. Genotype Phenotype Correlation in Li-Fraumeni Syndrome Kindreds and its Implications for Management. Familial Cancer 5, 129–133 (2006). https://doi.org/10.1007/s10689-005-4522-8

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-005-4522-8

Key words

Search

Navigation