li fraumeni syndrome

Summary

Summary: Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.

Top Publications

  1. ncbi Prenatal diagnosis in Li-Fraumeni syndrome
    Smadar Avigad
    Molecular Oncology, Felsenstein Medical Research Center, Petah Tikva, Israel
    J Pediatr Hematol Oncol 26:541-5. 2004
  2. ncbi A rare tumor and an ethical dilemma in a family with a germline TP53 mutation
    Kamila Prochazkova
    Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Vuvalu 84, 15006 Prague 5, Czech Republic
    Cancer Genet Cytogenet 180:65-9. 2008
  3. ncbi Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations
    Kelly D Gonzalez
    Departments of Molecular Diagnosis, Molecular Genetics, Clinical Cancer Genetics, and Information Sciences, and the Bioinformatics Group, City of Hope, Duarte, CA 91010 0269, USA
    J Clin Oncol 27:1250-6. 2009
  4. ncbi Relative frequency and morphology of cancers in carriers of germline TP53 mutations
    J M Birch
    CRC Paediatric and Familial Cancer Research Group and Department of Pathology, Royal Manchester Children s Hospital, Stancliffe, Hospital Road, Manchester M27 4HA, UK
    Oncogene 20:4621-8. 2001
  5. pmc Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li-Fraumeni syndrome
    C Kuperwasser
    Program in Molecular and Cellular Biology, Department of Veterinary and Animal Sciences, University of Massachusetts, Amherst, Massachusetts, USA
    Am J Pathol 157:2151-9. 2000
  6. ncbi Germline TP53 mutations and Li-Fraumeni syndrome
    J M Varley
    Paterson Institute for Cancer Research, Christie NHS Trust, Manchester, UK
    Hum Mutat 21:313-20. 2003
  7. ncbi Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
    J M Birch
    CRC Paediatric and Familial Cancer Research Group, Christie Hospital NHS Trust, Manchester, United Kingdom
    Cancer Res 54:1298-304. 1994
  8. doi Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families
    G Bougeard
    J Med Genet 45:535-8. 2008
  9. ncbi Loss of one p53 allele results in four-fold reduction of p53 mRNA and protein: a basis for p53 haplo-insufficiency
    C J Lynch
    YCR P53 Research Laboratory, Department of Biology, University of York, York, UK
    Oncogene 25:3463-70. 2006
  10. pmc Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome
    T Frebourg
    Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown
    Am J Hum Genet 56:608-15. 1995

Research Grants

  1. p53 Fusion Protein as an Oncology Therapeutic
    XINLI HENRY contact LIN; Fiscal Year: 2010
  2. The Genetics and Prevention of Gastrointestinal Cancers
    Sapna Syngal; Fiscal Year: 2013
  3. A MUTATIONAL MODEL FOR CHILDHOOD CANCER
    Louise C Strong; Fiscal Year: 2010
  4. Genetics, Genomic Research, and Consent: Attitudes of Pediatric Cancer Survivors
    ANDREA PATENAUDE; Fiscal Year: 2007
  5. PROBING THE DNA DAMAGE RESPONSE IN VITRO
    Jean Gautier; Fiscal Year: 2006
  6. DNA STRAND BREAKS AND THE GENETIC BASIS OF LYMPHOMAS
    Gilbert Chu; Fiscal Year: 2001
  7. STATUS OF P53 IN A LFS CANCER PRONE FAMILY
    Esther Chang; Fiscal Year: 1999
  8. Biology of CHK2 Kinase In Lung Cancer
    Weixin Wang; Fiscal Year: 2005
  9. FUNCTION OF THE S CEREVISIAE PHR1 GENE AND PHOTOLYASE
    GWENDOLYN SANCAR; Fiscal Year: 2004
  10. Generation of a faithful mouse model of Li Fraumeni Syndrome
    Wilfredo Cosme Blanco; Fiscal Year: 2007

Detail Information

Publications222 found, 100 shown here

  1. ncbi Prenatal diagnosis in Li-Fraumeni syndrome
    Smadar Avigad
    Molecular Oncology, Felsenstein Medical Research Center, Petah Tikva, Israel
    J Pediatr Hematol Oncol 26:541-5. 2004
    ..The authors addressed the complex question of predictive prenatal genetic testing for cancer risk associated with inheritance of TP53 mutation...
  2. ncbi A rare tumor and an ethical dilemma in a family with a germline TP53 mutation
    Kamila Prochazkova
    Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Vuvalu 84, 15006 Prague 5, Czech Republic
    Cancer Genet Cytogenet 180:65-9. 2008
    ..The case illustrates ethical problems associated with early predisposition testing in LFS, and the lack of consensus on this issue in the literature...
  3. ncbi Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations
    Kelly D Gonzalez
    Departments of Molecular Diagnosis, Molecular Genetics, Clinical Cancer Genetics, and Information Sciences, and the Bioinformatics Group, City of Hope, Duarte, CA 91010 0269, USA
    J Clin Oncol 27:1250-6. 2009
    ..A clinical testing cohort was used to gain a broader understanding of the spectrum of tumors associated with germline p53 mutations to aid clinicians in identifying high-risk families...
  4. ncbi Relative frequency and morphology of cancers in carriers of germline TP53 mutations
    J M Birch
    CRC Paediatric and Familial Cancer Research Group and Department of Pathology, Royal Manchester Children s Hospital, Stancliffe, Hospital Road, Manchester M27 4HA, UK
    Oncogene 20:4621-8. 2001
    ..We conclude that germline TP53 mutations do not simply increase general cancer risk. There are tissue-specific effects...
  5. pmc Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li-Fraumeni syndrome
    C Kuperwasser
    Program in Molecular and Cellular Biology, Department of Veterinary and Animal Sciences, University of Massachusetts, Amherst, Massachusetts, USA
    Am J Pathol 157:2151-9. 2000
    ..These results demonstrate the critical role that the p53 tumor suppressor gene plays in preventing tumorigenesis in the mammary gland...
  6. ncbi Germline TP53 mutations and Li-Fraumeni syndrome
    J M Varley
    Paterson Institute for Cancer Research, Christie NHS Trust, Manchester, UK
    Hum Mutat 21:313-20. 2003
    ....
  7. ncbi Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
    J M Birch
    CRC Paediatric and Familial Cancer Research Group, Christie Hospital NHS Trust, Manchester, United Kingdom
    Cancer Res 54:1298-304. 1994
    ..These observations have important implications for asymptomatic carriers of germline p53 mutations, and there is a need for international collaboration in the development of protocols for the management of such families...
  8. doi Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families
    G Bougeard
    J Med Genet 45:535-8. 2008
    ....
  9. ncbi Loss of one p53 allele results in four-fold reduction of p53 mRNA and protein: a basis for p53 haplo-insufficiency
    C J Lynch
    YCR P53 Research Laboratory, Department of Biology, University of York, York, UK
    Oncogene 25:3463-70. 2006
    ..These observations identify a molecular basis for wild-type p53 haplo-insufficiency, which may explain the attenuated tumour-suppressive phenotype observed in cells with a single wild-type p53 allele and in humans with LFS...
  10. pmc Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome
    T Frebourg
    Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown
    Am J Hum Genet 56:608-15. 1995
    ..abstract truncated at 250 words)..
  11. ncbi Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma
    T Trahair
    Centre for Children s Cancer and Blood Disorders, Sydney Children s Hospital, Randwick, New South Wales, Australia
    Pediatr Blood Cancer 48:345-8. 2007
    ..cancer in a mother and an extremity rhabdomyosarcoma (RMS) in her daughter led to the diagnosis of the Li Fraumeni syndrome (LFS)...
  12. ncbi Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families
    J M Varley
    Cancer Research Campaign Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, United Kingdom
    Cancer Res 57:3245-52. 1997
    ..This could reflect our analysis of all 11 exons of TP53, including noncoding regions, as well as the use of direct sequencing rather than other less-sensitive mutation detection methods...
  13. pmc The relationship between radiation-induced G(1)arrest and chromosome aberrations in Li-Fraumeni fibroblasts with or without germline TP53 mutations
    J M Boyle
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, CRC Christie Research Centre, Manchester, UK
    Br J Cancer 85:293-6. 2001
    ..In LF cells with or without TP53 mutations, the reduced capacity to eliminate or repair chromosomal damage of the type induced by ionising radiation, may contribute to cancer predisposition in this syndrome...
  14. ncbi [Li-Fraumeni syndrome: update, new data and guidelines for clinical management]
    T Frebourg
    , CHU et Inserm EMI 9906, , 76183 Rouen
    Bull Cancer 88:581-7. 2001
    ....
  15. ncbi Characterization of germline TP53 splicing mutations and their genetic and functional analysis
    J M Varley
    CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, Manchester M20 4BX, UK
    Oncogene 20:2647-54. 2001
    ..Furthermore we have identified the usage of a non-consensus splice donor site in four families with an intron 4 splice donor mutation...
  16. ncbi Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation
    Hans Christoph Rossbach
    Division of Pediatric Hematology Oncology, St Joseph Children s Hospital, Tampa, Florida, USA
    Pediatr Blood Cancer 50:681-3. 2008
    ..A unique correlation between a single TP53 mutation (R337H) and ACT has been reported in southern Brazilian children. It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists...
  17. ncbi Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome
    Uri Tabori
    Division of Hematology Oncology, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, Canada
    Cancer Res 67:1415-8. 2007
    ..Furthermore, telomere shortening could predict genetic anticipation observed in LFS and may serve as the first rational biological marker for clinical monitoring of these patients...
  18. ncbi Germline p53 mutation presenting as synchronous tumors
    Mary Ellen Cavalier
    Indiana University School of Medicine, Division of Pediatric Hematology Oncology, Indianapolis, IN 46202, USA
    J Pediatr Hematol Oncol 27:441-3. 2005
    ..Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma...
  19. ncbi p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies
    Claudia Pötzsch
    Div Hematology Oncology, University of Freiburg Medical Center, Hugstetter Str 55, 79106 Freiburg i Brsg, Germany
    J Cancer Res Clin Oncol 128:456-60. 2002
    ..Other malignancies diagnosed early in life in relatives of the mother were: prostate cancer, stomach cancer, and carcinoma of the larynx...
  20. ncbi Orbital rhabdomyosarcoma in Li-Fraumeni syndrome
    Deborah Y Chong
    Arch Ophthalmol 125:566-9. 2007
  21. ncbi Li-Fraumeni syndrome in a Malaysian kindred
    Hany Ariffin
    Pediatric Hematology Oncology Unit, Department of Pediatrics, University of Malaya Medical Center, Kuala Lumpur, Malaysia
    Cancer Genet Cytogenet 186:49-53. 2008
    ..Sequencing of TP53 in the father and two other asymptomatic siblings revealed wild-type TP53. To our knowledge, this is a first report of a Li-Fraumeni syndrome family in Southeast Asia...
  22. ncbi Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin
    Ines Bendig
    Institut fur Humangenetik, Universita t Würzburg, Biozentrum, Am Hubland, D 97072 Würzburg, Germany
    Cancer Genet Cytogenet 154:22-6. 2004
    ....
  23. ncbi p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition
    P Vahteristo
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, FIN-00029 Helsinki, Finland
    Cancer Res 61:5718-22. 2001
    ..No mutations in the CHK1 gene were identified. Additional work is necessary to completely unravel the molecular background of LFS...
  24. ncbi The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds
    Rina Siddiqui
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Fam Cancer 4:177-81. 2005
    ..While mutations in p53 account for a proportion of patients with LFS/LFL, future studies are needed to determine if other genes are responsible for LFS/LFL families not carrying germline p53 mutations...
  25. ncbi Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation
    A Salmon
    Sharett Institute of Oncology, Hadassah University Medical Center, 92000 Ein Kerem, Jerusalem, Israel
    Clin Oncol (R Coll Radiol) 19:490-3. 2007
    ..The aim of this study is to emphasize the importance of TP53 molecular testing in patients with very early onset breast cancer and no family history of cancer...
  26. ncbi Analysis of p53 tumor suppressor gene in families with multiple glioma patients
    N Paunu
    Department of Pathology, Tampere University Hospital and University of Tampere, Finland
    J Neurooncol 55:159-65. 2001
    ..The p53 tumor suppressor gene seems to have a similar role in the tumorigenesis of most familial and sporadic gliomas...
  27. ncbi Delayed chromosome changes in gamma-irradiated normal and Li-Fraumeni fibroblasts
    J M Boyle
    CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Christie Hospital NHS Trust, Manchester M20 9BX, United Kingdom
    Radiat Res 157:158-65. 2002
    ..Our findings raise questions about the validity of quantitative extrapolation of cytogenetic data from Trp53-defective mice to radiogenic cancer risk in humans...
  28. ncbi Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap
    J Wyatt-Ashmead
    Pathology Department, The Children's Hospital, 1056 East 19th Avenue B120, Denver, CO 80218, USA
    Pediatr Dev Pathol 4:545-9. 2001
    ..Of the five studied, four had deletions of chromosome 22 [three with monosomy 22 and one with del(22)(q12)]. Thus, there was a phenotypic and genotypic overlap between choroid plexus carcinomas and rhabdoid tumors...
  29. ncbi Analysis of TP53 germline mutations in pediatric tumor patients using DNA microarray-based sequencing technology
    Karl Ludwig Schaefer
    Gerhard Domagk Institute of Pathology, Westfalische Wilhelms University, Domagkstrasse 17, 48149 Munster, Germany
    Med Pediatr Oncol 38:247-53. 2002
    ....
  30. pmc Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility
    M M de Jong
    Department of Medical Oncology, University Hospital, Groningen, The Netherlands
    J Med Genet 39:225-42. 2002
    ..This will facilitate determination of population attributable risks, understanding of gene-gene interactions, and improving estimates of genetic cancer risks...
  31. ncbi Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome
    Gene A Lang
    Department of Molecular Genetics, Section of Cancer Genetics, The University of Texas MD Anderson Cancer Center and The University of Texas Graduate School of Biomedical Sciences, 1515 Holcombe Boulevard, Houston, TX 77030, USA
    Cell 119:861-72. 2004
    ..These results provide in vivo validation for the gain-of-function properties of certain p53 missense mutations and suggest a mechanistic basis for these phenotypes...
  32. ncbi RNA polymerase III transcription can be derepressed by oncogenes or mutations that compromise p53 function in tumours and Li-Fraumeni syndrome
    Torsten Stein
    Institute of Biomedical and Life Sciences, Division of Biochemistry and Molecular Biology, Davidson Building, University of Glasgow, Glasgow G12 8QQ, Scotland, UK
    Oncogene 21:2961-70. 2002
    ..Our data suggest that p53 status can have a profound effect upon pol III transcription and hence on the biosynthetic capacity of cells...
  33. ncbi Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene
    Gaelle Bougeard
    INSERM EMI 9906 IFRMP, Faculty of Medicine, Rouen, France
    Oncogene 22:840-6. 2003
    ..We conclude that TP53 germline rearrangements occur as rare events, but must be considered in LFS families without detectable point TP53 mutation...
  34. ncbi Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23
    Linda L Bachinski
    Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Cancer Res 65:427-31. 2005
    ..Identification ofa third predisposing gene and its underlying mutation(s) should provide insight into other genetic events that predispose to the genesis of the diverse tumor types associated with LFS and its variants...
  35. ncbi Balanced t(11;15)(q23;q15) in a TP53+/+ breast cancer patient from a Li-Fraumeni syndrome family
    Zaki A Sherif
    Department of Biochemistry and Molecular Biology, Georgetown University Medical Center, Basic Science Building, Rm 337, 3900 Reservoir Road, NW, Washington, DC 20057, USA
    Cancer Genet Cytogenet 168:50-8. 2006
    ..These data may implicate the region at breakpoint 11q23 and/or 15q15 as playing a significant role in predisposition to breast cancer development...
  36. ncbi Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006
    ..Furthermore, other breast cancer genes generally are not evaluated...
  37. ncbi Genetic heterogeneity in breast cancer susceptibility
    T I Andersen
    Department of Genetics, Institute for Cancer Research, Norwegian Radium Hospital, Oslo, Norway
    Acta Oncol 35:407-10. 1996
    ....
  38. ncbi Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome
    Patricia Wong
    Department of Internal Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
    Gastroenterology 130:73-9. 2006
    ..We investigated the prevalence of early onset colorectal cancer and the frequency of p53 germline mutations in 64 families from a Li-Fraumeni syndrome (LFS) registry...
  39. ncbi A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene
    Naohiro Izawa
    Department of Orthopedic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Koto ku, Tokyo, 135 8550, Japan
    Int J Clin Oncol 13:78-82. 2008
    ..Despite the multiple tumors, repeated induction of remissions resulted in long survival. Our findings suggest that a multidisciplinary approach to treatment, including surgery, is beneficial in patients with LFS...
  40. ncbi Effects of genetic background on tumorigenesis in p53-deficient mice
    L A Donehower
    Division of Molecular Virology, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Carcinog 14:16-22. 1995
    ..The high incidence of early-onset lymphomas in the nullizygous mice makes these animals a good lymphoma model, whereas the heterozygous mice may be a useful model for Li-Fraumeni syndrome, a human inherited cancer predisposition...
  41. ncbi F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome
    Serena Masciari
    Division of Population Sciences, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
    JAMA 299:1315-9. 2008
    ..The diversity of tumors and rarity of families have contributed to the difficulty in devising effective screening recommendations for members of LFS kindreds...
  42. ncbi A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors
    Marie Trkova
    Institute of Biology and Medical Genetics, Second Medical School, Charles University, Prague, Czech Republic
    Cancer Genet Cytogenet 145:60-4. 2003
    ..The product of the normal allele can potentially be inactivated by a variety of other mechanisms or, as suggested by the analysis, many of these tumors may even preserve the activity of the wild-type p53 protein...
  43. ncbi A germ line mutation in exon 5 of the p53 gene in an extended cancer family
    J C Law
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261
    Cancer Res 51:6385-7. 1991
    ..Its location extends the region of the p53 gene where inherited mutations predisposing to cancer are observed and suggests that their distribution may be diverse...
  44. ncbi Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype
    Magali Olivier
    IARC, Lyon, Cedex 8, France
    Cancer Res 63:6643-50. 2003
    ..004). These observations have clinical implications for genetic testing and tumor surveillance in LFS/LFL families...
  45. pmc Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein
    T Frebourg
    Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown 02129
    Proc Natl Acad Sci U S A 89:6413-7. 1992
    ..The observation of a functionally silent germ-line mutation indicates that, before associating a germ-line tumor suppressor gene mutation with cancer risk, it is prudent to consider its functional significance...
  46. ncbi Novel p53 germline mutation in a patient with Li-Fraumeni syndrome
    S S Wong
    Intern Med J 33:621. 2003
  47. ncbi p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes
    Kelly Gonzalez
    City of Hope National Medical Center, Duarte, California, USA
    Curr Protoc Hum Genet . 2008
    ..The protocol was designed for detecting germline alterations from DNA extracted from blood; however, with some additional optimization, it could also be used to detect somatic mutations in DNA extracted from tumors...
  48. pmc Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours
    Z Sedlacek
    Institute of Biology and Medical Genetics, Second Medical School, Charles University, Prague, Czech Republic
    Br J Cancer 77:1034-9. 1998
    ..These results support the view that complete loss of activity of the wild-type p53 need not be the initial event in the formation of all tumours in Li-Fraumeni individuals...
  49. ncbi The first case of Li-Fraumeni syndrome in Bosnia and Herzegovina: case report
    S Vranic
    Department of Clinical Pathology and Cytology, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina
    Pathologica 98:156-9. 2006
    ..Sequential analysis revealed a germ line mutation of TP53 in exon 8, a common mutation in patients with LFS, in both the patient and her mother...
  50. pmc Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
    G Bougeard
    J Med Genet 43:531-3. 2006
    ..Polymorphisms affecting p53 degradation therefore represent one of the rare examples of modifier genetic factors identified to date in mendelian predispositions to cancer...
  51. ncbi Joint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome
    Chih Chieh Wu
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Cancer Res 66:8287-92. 2006
    ..1-fold higher odds of having cancer than did men with mutations (95% CI, 2.5-20.3). These findings provide quantitative cancer risk assessments for LFS families...
  52. ncbi Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
    D W Bell
    Massachusetts General Hospital Center for Cancer Risk Analysis and Harvard Medical School, Building 149, Charlestown, MA 02129, USA
    Science 286:2528-31. 1999
    ....
  53. ncbi Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome
    Barry W Brown
    Department of Biomathematics, Unit 237, University of Texas M D Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA
    Hum Genet 118:489-98. 2005
    ..The apparent lack of increase in incidence in noncarriers argues against a cohort effect explaining the increase in carriers...
  54. ncbi TP53 mutation and haplotype analysis of two large African American families
    J Hung
    Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, Texas 75235 8593, USA
    Hum Mutat 14:216-21. 1999
    ..The finding of recurring mutations in African Americans may facilitate carrier screening and identification in this population...
  55. ncbi The etiology of osteosarcoma
    Giulia Ottaviani
    Children s Cancer Hospital, The University of Texas M D Anderson Cancer Center, Houston, TX 77030 4009, USA
    Cancer Treat Res 152:15-32. 2009
    ..Osteosarcoma has also been associated with the use of intravenous radium and Thorotrast. Exposure to alkylating agents may also contribute to its development ,and it is apparently independent of the administration of radiotherapy...
  56. ncbi Use of p53 transgenic mice in the development of cancer models for multiple purposes
    R A Lubet
    Chemoprevention Branch, National Cancer Institute, Executive Plaza North, Room 201, 6130 Executive Boulevard, Bethesda, MD 20852, USA
    Exp Lung Res 26:581-93. 2000
    ....
  57. ncbi Molecular alterations and lung tumors in p53 mutant mice exposed to cigarette smoke
    Silvio De Flora
    Department of Health Sciences, University of Genoa, I 16132 Genoa, Italy
    Cancer Res 63:793-800. 2003
    ..These findings provide evidence that p53 mutations play a role in smoke-related carcinogenesis not only in humans but also in A/J mice...
  58. ncbi Developmental abnormalities induced by X-irradiation in p53 deficient mice
    Sarah Baatout
    Laboratory of Radiobiology, Belgian Nuclear Research Centre, SCK CEN, Boeretang 200, B 2400 Mol, Belgium
    In Vivo 16:215-21. 2002
    ..In contrast to results published very recently by others, we found that malformed foetuses resulting from an X-irradiation with a low-dose during the highly sensitive period of gastrulation are able to survive to birth...
  59. ncbi Loss of heterozygosity occurs via mitotic recombination in Trp53+/- mice and associates with mammary tumor susceptibility of the BALB/c strain
    Anneke C Blackburn
    Department of Veterinary and Animal Sciences, Paige Laboratory, University of Massachusetts, Amherst, MA 01003 6410, USA
    Cancer Res 64:5140-7. 2004
    ..These results further implicate double-strand DNA break repair machinery as important contributors to mammary tumorigenesis...
  60. ncbi A germ-line p53 mutation accelerates pulmonary tumorigenesis: p53-independent efficacy of chemopreventive agents green tea or dexamethasone/myo-inositol and chemotherapeutic agents taxol or adriamycin
    Z Zhang
    Department of Pathology, Medical College of Ohio, Toledo 43699, USA
    Cancer Res 60:901-7. 2000
    ..Furthermore, the lung adenomas generated in this model possess mutations in both the K-ras proto-oncogene and the p53 tumor suppressor gene. This model should prove directly useful for chemoprevention and chemotherapy studies...
  61. ncbi Mutations in adrenocortical tumors
    M Reincke
    Medical Department II, University of Freiburg, Germany
    Horm Metab Res 30:447-55. 1998
    ..This indicates that the signaling pathways responsible for adrenocortical tumor formation are different from that of other endocrine neoplasms like pituitary and thyroid adenomas...
  62. ncbi Adrenocortical carcinoma
    C I M van Ditzhuijsen
    Department of Internal Medicine, Máxima Medical Centre Eindhoven, Ds Th Fliednerstraat 1, 5600 PD Eindhoven, The Netherlands
    Neth J Med 65:55-60. 2007
    ..The network combines knowledge and expertise and gives patients the opportunity to receive optimal treatment in their own district...
  63. ncbi [Hereditary bone tumors]
    G Jundt
    Knochentumor Referenzzentrum am Institut für Pathologie, Universitatsspital Basel, Schönbeinstr 40, 4031, Basel, Schweiz
    Pathologe 31:471-6. 2010
    ..In contrast to sporadically occurring similar tumors, differences in manifestation in time, topography or histology may be present which can aid in the correct recognition of the underlying syndrome...
  64. pmc Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene
    M D Taylor
    Arthur and Sonia Labatt Brain Tumor Research Centre, Division of Neurosurgery, Hospital for Sick Children, University of Toronto, Toronto, Canada
    Am J Hum Genet 66:1403-6. 2000
    ..These findings suggest that germline mutations in hSNF5 are associated with a novel autosomal dominant syndrome with incomplete penetrance that predisposes to malignant posterior fossa brain tumors in infancy...
  65. ncbi [Cancer in siblings of children with cancer]
    Jeanette Falck Winther
    Institut for Epidemiologisk Kraeftforskning, Kraeftens Bekaempelse, Strandboulevarden 49, DK 2100 København Ø
    Ugeskr Laeger 164:3073-9. 2002
    ..We aimed to assess relations between childhood cancer and sibling risk, and evaluate the influence of recessive conditions in cancer causation...
  66. ncbi Cancer in siblings of children with cancer in the Nordic countries: a population-based cohort study
    J F Winther
    Institute of Cancer Epidemiology, Danish Cancer Society, Copenhagen, Denmark
    Lancet 358:711-7. 2001
    ..We aimed to assess relations between childhood cancer and sibling risk, and evaluate the influence of recessive conditions in cancer causation...
  67. ncbi TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors
    Uri Tabori
    The Hospital for Sick Children, Division of Hematology Oncology, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada
    J Clin Oncol 28:1995-2001. 2010
    ..CONCLUSION Patients with CPC who have low tumor TSV and absence of TP53 dysfunction have a favorable prognosis and can be successfully treated without radiation therapy...
  68. pmc Aberrant DNA topoisomerase II activity, radioresistance and inherited susceptibility to cancer
    J M Cunningham
    Molecular Cell Pathology Laboratory, Royal Free Hospital School of Medicine, London, UK
    Br J Cancer 63:29-36. 1991
    ....
  69. pmc Mutation analysis of the CHK2 gene in breast carcinoma and other cancers
    Sigurdur Ingvarsson
    Institute for Experimental Pathology, University of Iceland, Reykjavik, Iceland
    Breast Cancer Res 4:R4. 2002
    ..Mutations in the CHK2 gene at chromosome 22q12.1 have been reported in families with Li-Fraumeni syndrome. Chk2 is an effector kinase that is activated in response to DNA damage and is involved in cell-cycle pathways and p53 pathways...
  70. pmc Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo
    H Caldas
    Center for Childhood Cancer, Columbus Children s Research Institute, Columbus, OH 43205, USA
    J Med Genet 43:119-28. 2006
    ..Our study aimed to identify rhabdomyosarcoma tumours that express Survivin, in order to test novel Survivin-targeted therapies in these tumours...
  71. ncbi Synchronous and metachronous skeletal osteosarcomas: the Norwegian Radium Hospital experience
    Petter Brandal
    Department of Oncology, Division of Cancer Medicine and Radiotherapy, The Norwegian Radium Hospital, Montebello, Oslo, Norway
    Acta Oncol 48:1165-72. 2009
    ..Revealing a possible clonal relationship between these tumors, e.g., by karyotyping, may be of interest for estimating prognosis and guide therapy intensiveness...
  72. ncbi Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome
    S Srivastava
    Department of Pathology, Uniformed Services University of the Health Sciences, Bethesda, Maryland 20814 4799
    Nature 348:747-9. 1990
    ..The NSF cell lines with the mutation also retained the normal p53 allele. This inherited p53 mutation may predispose the members of this family to increased susceptibility to cancer...
  73. ncbi Predisposing genes in breast and ovarian cancer: an overview
    S A Smith
    Department of Pathology, University of Cambridge, UK
    Tumori 79:291-6. 1993
    ..For the other cancer syndromes, the cloning of the predisposing genes is eagerly awaited...
  74. ncbi Cancer genes induced by malathion and parathion in the presence of estrogen in breast cells
    G M Calaf
    Instituto de Alta Investigación, Universidad de Tarapaca, Antofagasta 1520, Arica, Chile
    Int J Mol Med 21:261-8. 2008
    ..Thus, we suggest that pesticides and estrogens affect human breast cells inducing molecular changes indicative of transformation...
  75. ncbi Expression of wild-type p53 is required for efficient global genomic nucleotide excision repair in UV-irradiated human fibroblasts
    J M Ford
    Department of Biological Sciences, Stanford University, Stanford, California 94305, USA
    J Biol Chem 272:28073-80. 1997
    ..Therefore, the wild-type p53 gene product is an important determinant of nucleotide excision repair activity in human cells...
  76. ncbi Second primary malignancies among patients with soft tissue tumors in Sweden
    Jianguang Ji
    Department of Bioscience at Novum, Karolinska Institute, Huddinge, Sweden
    Int J Cancer 119:909-14. 2006
    ..The associations of STTs with cancers of the skin (squamous cell carcinoma and melanoma) and with NHL may be related to immunodeficiency...
  77. ncbi Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families
    Suzanna L Arcand
    The Research Institute of the McGill University Health Centre, Montreal, QC, Canada
    Breast Cancer Res Treat 108:399-408. 2008
    ..In all, germline TP53 mutations were identified in two of 52 (3.8%) cancer families, suggesting that TP53 is not a major contributor to BRCA1 and BRCA2 mutation-negative breast and/or ovarian cancer families of French Canadian descent...
  78. ncbi DNA repair and cancer: lessons from mutant mouse models
    Takatoshi Ishikawa
    Department of Pathology, Graduate School of Medicine, University of Tokyo, Bunkyo ku, Tokyo 113 0033, Japan
    Cancer Sci 95:112-7. 2004
    ..Accumulated evidence in these three mutant mouse models firmly supports the notion that the DNA repair system is vital for protection against cancer...
  79. ncbi Tumor suppressor p53 dependent recruitment of nucleotide excision repair factors XPC and TFIIH to DNA damage
    Qi En Wang
    Department of Radiology, The Ohio State University, 103 Wiseman Hall, 400 W 12th Avenue, Columbus, OH 43210, USA
    DNA Repair (Amst) 2:483-99. 2003
    ..Most likely mechanism of this p53 action is through its downstream effector protein, DDB2...
  80. ncbi CHEK2 1100delC is not a risk factor for male breast cancer population
    Kirsi Syrjakoski
    Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere and Tampere University Hospital, Tampere, Finland
    Int J Cancer 108:475-6. 2004
    ..We cannot exclude the fact that a small fraction of hereditary, family-positive male breast cancers could be attributable to CHEK2 mutations...
  81. ncbi Studies in target-based treatment
    Razelle Kurzrock
    Phase I Program, Division of Cancer Medicine, Unit 422, M D Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 4009, USA
    Mol Cancer Ther 6:1477. 2007
    ..documents, for the first time, successful use of adenoviral p53 therapy to treat a tumor in a patient with Li Fraumeni Syndrome, a hereditary cancer syndrome caused by the mutation of the p53 tumor suppressor gene...
  82. pmc Chk2 is a tumor suppressor that regulates apoptosis in both an ataxia telangiectasia mutated (ATM)-dependent and an ATM-independent manner
    Atsushi Hirao
    Department of Medical Biophysics, Ontario Cancer Institute, University of Toronto, Ontario M5G 2C1, Canada
    Mol Cell Biol 22:6521-32. 2002
    ..ATR may thus selectively contribute to p53-mediated apoptosis. These data indicate that distinct pathways regulate the activation of p53 leading to cell cycle arrest or apoptosis...
  83. ncbi High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer
    E Grzybowska
    Department of Tumor Biology, Centre of Oncology, Maria Sklodowska Curie Memorial Institute, Gliwice, Poland
    Hum Mutat 16:482-90. 2000
    ..This frequency, however, may not be representative for the entire Polish population. The observed distribution of mutations will favor routine pre-screening of predisposed families using a simple and cost-effective test...
  84. ncbi p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome
    Kaisa Sotamaa
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
    Clin Cancer Res 11:6840-4. 2005
    ..We studied the influence of both polymorphisms on age of onset in Lynch syndrome and of the p53 polymorphism also in sporadic colorectal cancer...
  85. ncbi atm and p53 cooperate in apoptosis and suppression of tumorigenesis, but not in resistance to acute radiation toxicity
    C H Westphal
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 16:397-401. 1997
    ....
  86. ncbi Primary orbital liposarcoma
    Simon N Madge
    Discipline of Ophthalmology and Visual Sciences, University of Adelaide, South Australia
    Ophthalmology 117:606-14. 2010
    ..To describe 6 new cases of primary orbital liposarcoma and provide a review of the relevant literature...
  87. ncbi The relationship between angiogenesis and the immune response in carcinogenesis and the progression of malignant disease
    K J O'Byrne
    University Department of Oncology, Leicester Royal Infirmary, UK
    Eur J Cancer 36:151-69. 2000
    ..growth factors (insulin-like growth factor-I in acromegaly), mutations in tumour suppressor genes (TP53 in Li Fraumeni syndrome) and long-term exposure to immunosuppressive agents (cyclosporin A) may also give rise to similar ..
  88. ncbi MDM2 promoter polymorphism is associated with both an increased susceptibility to gastric carcinoma and poor prognosis
    Naoki Ohmiya
    Department of Gastroenterology, Nagoya University Graduate School of Medicine, Nagoya, Japan 466 8550
    J Clin Oncol 24:4434-40. 2006
    ..The aim of this study was to determine whether SNP309 is associated with susceptibility to gastric carcinoma and its prognosis...
  89. ncbi Hepatoblastoma in a child with neurofibromatosis type I
    Canan Ucar
    Department of Pediatric Hematology, Selcuk University, Meram Faculty of Medicine, Konya, Turkey
    Pediatr Blood Cancer 49:357-9. 2007
    ..This paper describes a case of hepatoblastoma diagnosed in association with neurofibromatosis type 1...
  90. ncbi Restoration of p53 functions protects cells from concanavalin A-induced apoptosis
    A R M Ruhul Amin
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Mol Cancer Ther 9:471-9. 2010
    ....
  91. ncbi Breast magnetic resonance imaging: an overview for nonradiologists
    Laurie Margolies
    Mount Sinai School of Medicine, New York, NY, USA
    Mt Sinai J Med 76:598-605. 2009
    ..This article discusses indications for ordering breast magnetic resonance imaging and how to read the breast magnetic resonance imaging report and understand the lexicon used...
  92. ncbi A case with extraosseous Ewing's sarcoma: a late effect related to bone marrow transplantation for thalassemia or a component of a familial cancer syndrome?
    K Mutafoglu Uysal
    Department of Pediatric Oncology, Dokuz Eylul University, Inciralti Izmir, Turkey
    Pediatr Hematol Oncol 17:415-9. 2000
    ..The possible contribution of transplantation procedure and the genetic factors as well as the primary genetic hemoglobinopathy to the development of this malignant tumor are discussed...
  93. pmc Role of transcription-coupled DNA repair in susceptibility to environmental carcinogenesis
    P C Hanawalt
    Department of Biological Sciences, Stanford University, California 94305 5020, USA
    Environ Health Perspect 104:547-51. 1996
    ..The loss of p53 function may lead to greater genomic instability by reducing the efficiency of global DNA repair while cellular resistance may be assured through the operation of TCR and the elimination of apoptosis...
  94. ncbi Screening of germline mutations in the CDK4, CDKN2C and TP53 genes in familial melanoma: a clinic-based population study
    A Platz
    Department of Oncology, Radiumhemmet, Karolinska Hospital, Stockholm, Sweden
    Int J Cancer 78:13-5. 1998
    ..No disease-related mutations were detected in the coding regions. A direct contribution of these genes to the hereditary risk for melanoma in members of Swedish melanoma kindreds therefore appears unlikely...
  95. ncbi Tumor suppressor loss in pituitary tumors
    J M Alexander
    Harvard Medical School, Boston, MA, USA
    Brain Pathol 11:342-55. 2001
    ..Thus, the role of TSGs, if any, in sporadic pituitary adenoma formation has yet to be determined, despite our greater understanding of the molecular mechanisms underlying pituitary cell function and phenotype...
  96. ncbi Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
    Sonia Garritano
    International Agency for Research on Cancer IARC, Lyon, Rhone, France
    Hum Mutat 31:143-50. 2010
    ..This historical circumstance and the relatively low penetrance before the age of 30 may have contributed to the maintenance of this pathogenic mutation in a large, open population...
  97. ncbi Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma
    Heather M Delaney
    Department of Pediatrics, Tripler Army Medical Center, 1 Jarrett White Road, Tripler AMC, HI 96859 5000, USA
    J Pediatr Hematol Oncol 30:803-6. 2008
    ....
  98. ncbi Preimplantation genetic diagnosis for cancer predisposition
    Svetlana Rechitsky
    Reproductive Genetics Institute, 2825 North Halsted Street, Chicago, Illinois, USA
    Reprod Biomed Online 5:148-55. 2002
    ....
  99. ncbi Molecular markers and the pathogenesis of adrenocortical cancer
    Patsy S H Soon
    Cancer Genetics, Kolling Institute of Medical Research, University of Sydney, Sydney, Australia
    Oncologist 13:548-61. 2008
    ....
  100. ncbi [Prophylactic surgery of mammary and ovarian carcinoma]
    M P Lux
    Frauenklinik, Universitatsklinikum Erlangen
    Chirurg 76:1145-54. 2005
    ..Afterwards, options of primary, secondary, and tertiary prevention can be formulated. Presently, prophylactic surgery is the only option proven by clinical trials that can reduce the mortality of hereditary breast and ovarian cancer...
  101. ncbi Genes implicated in hereditary breast cancer syndromes
    P N Tonin
    Department of Medicine, Division of Medical Genetics, McGill University, Montreal, Quebec, Canada
    Semin Surg Oncol 18:281-6. 2000
    ..Host factors (such as lifestyle choices) and other genes may modulate risk of breast cancer in mutation carriers...

Research Grants38

  1. p53 Fusion Protein as an Oncology Therapeutic
    XINLI HENRY contact LIN; Fiscal Year: 2010
    ..The ultimate goal is to develop GnRH-p53 into an effective antineoplastic drug to treat patients with breast, ovarian, and prostate cancers. ..
  2. The Genetics and Prevention of Gastrointestinal Cancers
    Sapna Syngal; Fiscal Year: 2013
    ..It also contributes to the increasing pool of trained clinical researchers in the field of gastrointestinal cancers and cancer genetics. ..
  3. A MUTATIONAL MODEL FOR CHILDHOOD CANCER
    Louise C Strong; Fiscal Year: 2010
    ..We have focused on two model familial syndromes of childhood and adolescent cancers, sarcomas and Li Fraumeni Syndrome (LFS) and its variants, and Wilms'tumor of the kidney...
  4. Genetics, Genomic Research, and Consent: Attitudes of Pediatric Cancer Survivors
    ANDREA PATENAUDE; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  5. PROBING THE DNA DAMAGE RESPONSE IN VITRO
    Jean Gautier; Fiscal Year: 2006
    ..These studies will provide valuable information on how the DNA damage response can be impaired or lost in the case of cancer and will help identify drugs that influence the DNA damage response. ..
  6. DNA STRAND BREAKS AND THE GENETIC BASIS OF LYMPHOMAS
    Gilbert Chu; Fiscal Year: 2001
    ..The long term goal is to define the genetic changes that mediate malignant progression of lymphomas. Hopefully, molecular analysis of individual lymphomas will some day lead to the cure of more patients. ..
  7. STATUS OF P53 IN A LFS CANCER PRONE FAMILY
    Esther Chang; Fiscal Year: 1999
    ....
  8. Biology of CHK2 Kinase In Lung Cancer
    Weixin Wang; Fiscal Year: 2005
    ....
  9. FUNCTION OF THE S CEREVISIAE PHR1 GENE AND PHOTOLYASE
    GWENDOLYN SANCAR; Fiscal Year: 2004
    ..Ultimately this knowledge may help us to identify individuals at high risk for sunlight-induced cancers, as well as other forms of cancer. ..
  10. Generation of a faithful mouse model of Li Fraumeni Syndrome
    Wilfredo Cosme Blanco; Fiscal Year: 2007
    b>Li Fraumeni Syndrome (LFS) is an autosomal recessive disorder characterized by early age of onset of carcinomas and soft tissues sarcomas. Individuals with LFS most often inherit missense mutations in the p53 tumor suppressor gene...
  11. GENETICS OF BREAST CANCER
    David Anderson; Fiscal Year: 1991
    ....
  12. Genetic Modifiers of p53
    Susan Evans; Fiscal Year: 2005
    ..abstract_text> ..
  13. MUTATIONAL ANALYSIS OF P53 RELATED GENES
    Daniel Haber; Fiscal Year: 2001
    ..Finally, we will examine a collection of tumor cell lines for the frequency of mutations in these candidate genes. ..
  14. Chk2--Roles in Checkpoint and Breast Tumor Suppression
    Shiaw Yih Lin; Fiscal Year: 2003
    ..We believe that the mechanisms and targets discovered in our studies will be critical for developing more effective approaches in breast cancer therapy in the future. ..
  15. IN VITRO SCREENING OF CHEMOPREVENTIVE AGENTS
    Martin Lipkin; Fiscal Year: 1999
    ..The immortalization frequency shall be correlated with a series of other objectively and quantitatively measurable endpoints that can be assessed in the absence or presence of chemopreventive agents. Five agents will be tested. ..
  16. UNDERSTANDING A NOVEL MODIFIER OF P53 TUMORIGENESIS
    Susan Evans; Fiscal Year: 2005
    ..These fields of research will aid in my long-term goal of establishing myself as an independent scientist to study the influence of risk modifiers and secondary genetic events on tumorigenesis. ..
  17. IN VITRO SCREENING OF CHEMOPREVENTIVE AGENTS
    MICHAEL TAINSKY; Fiscal Year: 2000
    ..The immortalization frequency shall be correlated with a series of other objectively and quantitatively measurable endpoints that can be assessed in the absence or presence of chemopreventive agents. ..
  18. KARP 1 V(D)J RECOMBINATION AND DNA REPAIR
    ERIC HENDRICKSON; Fiscal Year: 2001
    ..predisposition syndromes such as ataxia telangiectasia, Fanconi's anemia, human nonpolyposis colon cancer, Li Fraumeni syndrome, xeroderma pigmentosum and breast cancer, where it appears that the underlying molecular defects reside in ..
  19. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2004
    ....
  20. Development of Statistical Approaches Allowing for Genetic Covariates
    Chih Chieh Wu; Fiscal Year: 2008
    ..The Texas Cancer Genetic Consortium, a Cancer Genetic Network regional center, will provide the breast cancer data. [unreadable] [unreadable] [unreadable]..
  21. P53-dependent responses to toxicants in parous and nulliparous breast
    D Joseph Jerry; Fiscal Year: 2010
    ....
  22. Hormonal regulation of p53 activity in mammary tissue
    D Jerry; Fiscal Year: 2008
    ..The results will lead to identification of cellular mechanisms that regulate p53 function in the mammary epithelium. These pathways will provide novel targets for both treatment and prevention of breast cancer. ..
  23. Interactive CD-ROM on Cancer Genetics for Hispanics
    Susan Peterson; Fiscal Year: 2009
    ..In doing so, we will address an important educational void by providing the information women need in a manner that is satisfying, acceptable and effective. ..
  24. Novel algorithms and organisms for Onto-Tools
    Sorin Draghici; Fiscal Year: 2007
    ..The enhanced Onto-Tools will continue to be freely available. Onto-Analyzer and the software evolution tools developed under this proposal will be made freely available to the research community, as well. ..
  25. Multimedia Intervention for Adolescents and Young Adults with FAP
    Susan Peterson; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  26. Genetic modifiers of mammary tumor susceptibility
    D Jerry; Fiscal Year: 2009
    ..Identificationofgenes thatmodifysusceptibilitytomammarytumors willprovidemarkers for riskassessment andnovel targets for therapeutic intervention. ..
  27. Antifolate Resistance in Osteosarcoma
    Richard Gorlick; Fiscal Year: 2007
    ....
  28. CHARACTERIZATION OF A NEW GENE IN P53 MUTANT LFS FAMILY
    ZAKI SHERIF; Fiscal Year: 2004
    ..These studies of LFS should delineate the correlation between genotype and phenotype in LFS and contribute to the general understanding of the processes leading to carcinogenesis. ..
  29. Statistical Methods for Gene-Gene and Gene-Environment *
    Sanjay Shete; Fiscal Year: 2004
    ..D. Anderson Cancer Center in an ongoing study of genetic susceptibility to lung cancer. ..
  30. Infrastructure equipment for gene expression analysis
    Sorin Draghici; Fiscal Year: 2003
    ..Furthermore, the system may be expanded in the future, to accommodate new investigators at a cost that is very feasible. ..
  31. New Models of Human Cancer
    William Hahn; Fiscal Year: 2005
    ..Robert Weinberg and the unique resources of the Whitehead Institute to develop these new systems and to broaden my research experiences as I make the crucial transition to an independent investigator. ..
  32. Exploratory Trial of Curcumin in Pancreatic Cancer
    Razelle Kurzrock; Fiscal Year: 2005
    ..These studies should provide the foundation for the development of curcumin as an anticancer agent and may lead to a novel approach to the management of pancreatic cancer. ..
  33. Farnesyltransferase Inhibitor Therapy for Myelodysplasia
    Razelle Kurzrock; Fiscal Year: 2002
    ....
  34. POPULATION BASED STUDIES OF BRCA1
    Frederick Li; Fiscal Year: 2002
    ..Our validated BRCA1 data will be submitted to the CFRBCS Central Database for investigations of early intervention strategies and cancer outcomes among BRCA1 carriers. ..
  35. Genetic and Epigenetic Markers in Ovarian Cancer
    Elizabeth Swisher; Fiscal Year: 2006
    ..These studies may identify new prognostic or diagnostic markers in ovarian cancer. Such markers could then be tested in prospective trials to determine their clinical utility. ..
  36. MUTANT P53 GAIN OF FUNCTION IN TUMORIGENESIS
    Gerard Zambetti; Fiscal Year: 2007
    ..abstract_text> ..
  37. Profiling Modifications of p53 by Mass Spectrometry
    D Jerry; Fiscal Year: 2003
    ..Optimized procedures will be applied to human tumors to determine the patterns of post-translational modifications by MALDI-ToF. ..