J M Varley

Summary

Affiliation: University of Manchester
Country: UK

Publications

  1. ncbi request reprint 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
  2. pmc Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors
    J M Varley
    Cancer Research Campaign, Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, United Kingdom
    Am J Hum Genet 65:995-1006. 1999
  3. pmc An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53
    J M Varley
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK
    J Med Genet 32:942-5. 1995
  4. pmc A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier
    J M Varley
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK
    Br J Cancer 78:1081-3. 1998
  5. 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
  6. pmc Highly consistent genetic alterations in childhood adrenocortical tumours detected by comparative genomic hybridization
    L A James
    CRC Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, UK
    Br J Cancer 81:300-4. 1999
  7. pmc Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome
    E C Burt
    CRC Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, UK
    Br J Cancer 80:9-10. 1999
  8. pmc Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ
    K E Munn
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester, UK
    Br J Cancer 74:1578-85. 1996
  9. ncbi request reprint Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome
    J M Varley
    CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, M20 4BX, Manchester, UK
    Cancer Genet Cytogenet 129:85-7. 2001
  10. pmc Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations
    J M Boyle
    CRC Section of Molecular Genetics, Paterson Institute for Cancer Research, Christie CRC Research Centre, Manchester, UK
    Br J Cancer 79:1657-64. 1999

Collaborators

  • J M Birch
  • D Scott
  • R A Walker
  • S A Roberts
  • E Levine
  • R S Camplejohn
  • J Martin
  • T Stankovic
  • Gareth D Evans
  • M D Teare
  • J M Boyle
  • K L Marsh
  • M J Greaves
  • D W Bell
  • L A James
  • D G R Evans
  • K E Munn
  • S B Lee
  • G McGown
  • F P Li
  • D A Haber
  • D C Wahrer
  • J E Garber
  • E C Burt
  • J M Appleby
  • A R Spreadborough
  • L Menasce
  • M Thorneycroft
  • F Lalloo
  • D C Sgroi
  • A Spreadborough
  • A K Godwin
  • K M Shannon
  • M M Jorczak
  • E Harlow
  • K E Nichols
  • S H Kim
  • T A Schiripo
  • J F Fraumeni
  • K J Isselbacher
  • T E Szydlo
  • A M Kelsey
  • M Thorncroft
  • M Lubratovich
  • S J Verselis
  • K E Shannon
  • D H Kang
  • C Warren
  • A M Taylor
  • J Heighway
  • J B Barber
  • S R Warne
  • G J Boulnois
  • M G Norton

Detail Information

Publications22

  1. ncbi request reprint 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...
  2. pmc Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors
    J M Varley
    Cancer Research Campaign, Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, United Kingdom
    Am J Hum Genet 65:995-1006. 1999
    ..Our findings have considerable implications for the clinical management of children with andrenocortical tumors and their parents, in terms of both genetic testing and the early detection and treatment of tumors...
  3. pmc An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53
    J M Varley
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK
    J Med Genet 32:942-5. 1995
    ..A codon 175 missense mutation was identified in exon 5 in all available affected subjects. Counselling, screening, and issues surrounding presymptomatic testing are discussed...
  4. pmc A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier
    J M Varley
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK
    Br J Cancer 78:1081-3. 1998
    ..The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier...
  5. 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...
  6. pmc Highly consistent genetic alterations in childhood adrenocortical tumours detected by comparative genomic hybridization
    L A James
    CRC Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, UK
    Br J Cancer 81:300-4. 1999
    ....
  7. pmc Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome
    E C Burt
    CRC Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, UK
    Br J Cancer 80:9-10. 1999
    ..These genes function in cell cycle progression or are mutated in a variety of tumours. We have detected no mutations in the family members tested...
  8. pmc Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ
    K E Munn
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester, UK
    Br J Cancer 74:1578-85. 1996
    ..TP53 mutations and AI on 17p have been identified in cases of 'pure' DCIS as well as those with associated invasive carcinoma and, furthermore, have been identified in well-differentiated lesions as well as poorly differentiated ones...
  9. ncbi request reprint Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome
    J M Varley
    CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, M20 4BX, Manchester, UK
    Cancer Genet Cytogenet 129:85-7. 2001
    ..We find no evidence for intron 6 sequence variants predisposing to LFS in our cohort of families and, furthermore, we show that some of the conclusions of other groups cannot be supported by data from our analysis...
  10. pmc Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations
    J M Boyle
    CRC Section of Molecular Genetics, Paterson Institute for Cancer Research, Christie CRC Research Centre, Manchester, UK
    Br J Cancer 79:1657-64. 1999
    ..Exceptions to the previously reported inverse correlation between G1 arrest and clonogenic radiation resistance were observed, indicating that these phenotypes are not strictly interdependent...
  11. ncbi request reprint A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome
    J M Varley
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK
    Oncogene 12:2437-42. 1996
    ..A cell line has been established from the tumour of the proband and cytogenetic and molecular studies carried out, providing an extensive analysis in this family...
  12. ncbi request reprint 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
    ....
  13. pmc Frequent alterations of cell cycle regulators in early-stage breast lesions as detected by immunohistochemistry
    K L Marsh
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester, UK
    Br J Cancer 77:1460-8. 1998
    ..Overexpression of cyclin D1 was found in approximately 49% cases, reduced expression of p16 in approximately 46% and reduced expression of pRb in approximately 37%. Allelic imbalance of cyclin D1 was found in approximately 57% cases...
  14. ncbi request reprint 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...
  15. pmc Loss of heterozygosity at chromosome 9p in ductal carcinoma in situ and invasive carcinoma of the breast
    K L Marsh
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester, UK
    Br J Cancer 77:1439-47. 1998
    ..Surprisingly, considerably higher levels of loss were observed in the tumours with an in situ component. Also, much heterogeneity was observed between different DCIS ducts or invasive tumour and DCIS from the same case...
  16. pmc Absence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy
    J M Appleby
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital NHS Trust, Manchester, UK
    Br J Cancer 76:1546-9. 1997
    ..These early results suggest that screening for ATM mutations in cancer patients may not be of value in predicting adverse reactions...
  17. pmc Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast
    K E Munn
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester, UK
    Br J Cancer 73:636-9. 1996
    ..However, two cases showed AI distal to BRCA1, supporting the presence of a second tumour-suppressor gene on 17q...
  18. ncbi request reprint 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...
  19. ncbi request reprint Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome
    S B Lee
    Massachusetts General Hospital Cancer Center and Harvard Medical School, Building 149, 13th Street, Charlestown, MA 02129, USA
    Cancer Res 61:8062-7. 2001
    ..Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53...
  20. ncbi request reprint 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
    ....
  21. pmc Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome
    D G R Evans
    J Med Genet 39:941-4. 2002
  22. ncbi request reprint Identification and characterization of a gene that controls colony morphology and auto-aggregation in Escherichia coli K12
    S R Warne
    Warren Spring Laboratory, Stevenage, Herts, UK
    J Gen Microbiol 136:455-62. 1990
    ..coli and the metR gene from Salmonella typhimurium. It has also been shown that the mor gene is autoregulated at the transcriptional level...