Julian R Sampson

Summary

Affiliation: Cardiff University
Country: UK

Publications

  1. pmc Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
    Melika Mozaffari
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    BMC Med Genet 10:88. 2009
  2. doi request reprint Therapeutic targeting of mTOR in tuberous sclerosis
    Julian R Sampson
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Biochem Soc Trans 37:259-64. 2009
  3. ncbi request reprint Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    Julian R Sampson
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Lancet 362:39-41. 2003
  4. ncbi request reprint TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis
    J R Sampson
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 8XN, UK
    Biochem Soc Trans 31:592-6. 2003
  5. ncbi request reprint Tsc1 haploinsufficiency without mammalian target of rapamycin activation is sufficient for renal cyst formation in Tsc1+/- mice
    Catherine Wilson
    Department of Medical Genetics, Cardiff University, Cardiff, United Kingdom
    Cancer Res 66:7934-8. 2006
  6. doi request reprint The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations
    Anthony R Dallosso
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    Hum Mutat 30:1412-8. 2009
  7. ncbi request reprint Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background
    Catherine Wilson
    Department of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom
    Cancer Res 65:10179-82. 2005
  8. ncbi request reprint Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations
    Sian Jones
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Hum Mol Genet 11:2961-7. 2002
  9. doi request reprint Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH
    Natalie Jones
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom
    Gastroenterology 137:489-94, 494.e1; quiz 725-6. 2009
  10. ncbi request reprint Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes
    Paul Emmerson
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Mutat 21:112-5. 2003

Collaborators

Detail Information

Publications53

  1. pmc Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
    Melika Mozaffari
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    BMC Med Genet 10:88. 2009
    ..Recently it has been shown that missense mutations to the TSC1 gene can cause TSC...
  2. doi request reprint Therapeutic targeting of mTOR in tuberous sclerosis
    Julian R Sampson
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Biochem Soc Trans 37:259-64. 2009
    ..These promising pre-clinical and early human trials are being followed by larger-scale randomized control trials of mTOR inhibitors for treatment of renal, lung and brain manifestations of TSC1- and TSC2-associated disease...
  3. ncbi request reprint Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
    Julian R Sampson
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Lancet 362:39-41. 2003
    ..Since our data show that MYH polyposis can be transmitted as an autosomal recessive trait, a change in genetic counselling, testing, and surveillance is needed...
  4. ncbi request reprint TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis
    J R Sampson
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 8XN, UK
    Biochem Soc Trans 31:592-6. 2003
    ..Drugs that act to inhibit this pathway may have therapeutic potential for tuberous sclerosis and the related disorder lymphangioleiomyomatosis...
  5. ncbi request reprint Tsc1 haploinsufficiency without mammalian target of rapamycin activation is sufficient for renal cyst formation in Tsc1+/- mice
    Catherine Wilson
    Department of Medical Genetics, Cardiff University, Cardiff, United Kingdom
    Cancer Res 66:7934-8. 2006
    ..017). Our data indicate that although activation of the mTOR pathway is an important step in Tsc-associated renal tumorigenesis, it may not be the key initiating event in this process...
  6. doi request reprint The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations
    Anthony R Dallosso
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    Hum Mutat 30:1412-8. 2009
    ..Glu1317Gln in combination with other weak mutant APC alleles (generating polypepetides with zero, two, or three 20AARs) can provide the necessary growth advantage for colorectal tumorigenesis...
  7. ncbi request reprint Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background
    Catherine Wilson
    Department of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom
    Cancer Res 65:10179-82. 2005
    ..This work shows the use of the Blm(m3/m3) mice for inducing renal tumorigenesis, and the high levels (approximately 87%) of LOH in the resultant tumors will help facilitate mapping of loci involved in tumor progression...
  8. ncbi request reprint Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations
    Sian Jones
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Hum Mol Genet 11:2961-7. 2002
    ..These findings confirm the role of MYH in colorectal adenoma and carcinoma predisposition...
  9. doi request reprint Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH
    Natalie Jones
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom
    Gastroenterology 137:489-94, 494.e1; quiz 725-6. 2009
    ..We performed a retrospective study of cancer incidence and causes of death among obligate MUTYH heterozygote individuals...
  10. ncbi request reprint Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes
    Paul Emmerson
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Mutat 21:112-5. 2003
    ..This method may simplify many of the currently challenging goals in mutation detection...
  11. ncbi request reprint Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma
    Nada Al-Tassan
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
    Hum Genet 114:207-10. 2004
    ....
  12. doi request reprint MUTYH-associated polyposis
    Julian R Sampson
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Best Pract Res Clin Gastroenterol 23:209-18. 2009
    ....
  13. doi request reprint Renal tumours in a Tsc1+/- mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin
    Jian Yang
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Eur J Cancer 49:1479-90. 2013
    ..These data suggest that the epigenetic suppression of the organic cation transporters in Tsc-associated mouse renal tumours may contribute to the lack of response to metformin treatment...
  14. doi request reprint Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas
    Duncan Azzopardi
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    Cancer Res 68:358-63. 2008
    ..These data suggest that multiple rare nonsynonymous variants in APC play a significant role in predisposing to CRAs...
  15. ncbi request reprint MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing
    Jeremy P Cheadle
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    DNA Repair (Amst) 6:274-9. 2007
    ..We also discuss the application of molecular genetic analysis of MUTYH in clinical practice...
  16. ncbi request reprint Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software
    James Colley
    Institute of Medical Genetics, Cardiff University, Health Park, Cardiff, CF14 4XN, United Kingdom
    Hum Mutat 26:165. 2005
    ..We conclude that the Navigator software provides an excellent tool for rapid discrimination of aberrant dHPLC elution profiles that harbour sequence variants...
  17. ncbi request reprint Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2
    Lisa Lee-Jones
    Tumour Molecular Genetics Group, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Genes Chromosomes Cancer 41:80-5. 2004
    ..These data provide the first evidence of a pathogenic role by TSC genes in sacrococcygeal chordomas...
  18. ncbi request reprint Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2
    Emmanuel S Antonarakis
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    J Biochem Biophys Methods 51:161-4. 2002
    ..Here, we report the use of temperature modulation in DHPLC analysis to facilitate the robust detection of a mosaic mutation, N1643K, in the presence of a coexisting constitutional polymorphism...
  19. pmc Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence
    Elaine A Dunlop
    Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
    Eur J Hum Genet 19:789-95. 2011
    ..These data highlight the difficulties of assessing pathogenicity of a mutation and suggest that multiple lines of evidence, both genetic and functional, are required to assess the pathogenicity of some mutations...
  20. ncbi request reprint Exposing the MYtH about base excision repair and human inherited disease
    Jeremy P Cheadle
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Mol Genet 12:R159-65. 2003
    ..We review the molecular mechanism of tumourigenesis in MYH polyposis, the preliminary delineation of the MYH polyposis phenotype and the functional overlap of MYH with other repair proteins...
  21. pmc NTNG1 mutations are a rare cause of Rett syndrome
    Hayley L Archer
    Institute of Medical Genetics, Cardiff University, University Hospital of Wales, Cardiff, United Kingdom
    Am J Med Genet A 140:691-4. 2006
    ..Mutations in the NTNG1 gene appear to be a rare cause of RTT but NTNG1 function demands further investigation in relation to the central nervous system pathophysiology of the disorder...
  22. ncbi request reprint Early onset seizures and Rett-like features associated with mutations in CDKL5
    Julie C Evans
    Department of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
    Eur J Hum Genet 13:1113-20. 2005
    ..Combining our three new cases with the previously published cases, 13/14 patients with CDKL5 mutations presented with seizures before the age of 3 months...
  23. doi request reprint Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial
    D Mark Davies
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom
    Clin Cancer Res 17:4071-81. 2011
    ..This study investigated the efficacy and safety of the mTORC1 inhibitor sirolimus for treatment of renal angiomyolipomas in patients with these disorders...
  24. ncbi request reprint A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma
    Catherine Wilson
    Department of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 14:1839-50. 2005
    ..We detected loss of the wild-type Tsc1 allele and elevated levels of p-mTOR and p-S6 in lesions from Tsc1+/- mice. This new murine model of hamartin deficiency exhibits a more severe phenotype than existing models...
  25. doi request reprint T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis
    Maria Kalogerou
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Eur J Radiol 81:2069-74. 2012
    ..Identification and characterisation of these lesions in vivo may help in TSC pre-clinical trials. This study was to evaluate T2 weighted MRI for assessment of renal lesions in two Tsc mouse models...
  26. ncbi request reprint Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors
    Nada Al-Tassan
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Nat Genet 30:227-32. 2002
    ..Our findings link the inherited variants in MYH to the pattern of somatic APC mutation in family N and implicate defective base excision repair in predisposition to tumors in humans...
  27. doi request reprint Extensive telomere erosion in the initiation of colorectal adenomas and its association with chromosomal instability
    Lauréline Roger
    Affiliation of authors Institute of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK
    J Natl Cancer Inst 105:1202-11. 2013
    ..The relative contribution that telomere dysfunction and/or APC mutation play in the chromosome instability that occurs during colorectal tumorigenesis is not clear...
  28. doi request reprint Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders
    D Mark Davies
    Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK
    J Med Genet 47:145-9. 2010
    ..We also consider the limitations of these "molecularly targeted" approaches and the difficulties in their clinical development as therapies for rare genetic diseases...
  29. ncbi request reprint Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours
    Jeremy P Cheadle
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, United Kingdom
    Cancer Res 62:363-6. 2002
    ..9 times more likely to be selected than IO or IL (O: mutation outside MCR, L: allelic loss), which were 27.8 times more likely to be selected than OO or OL...
  30. pmc Genotype and psychological phenotype in tuberous sclerosis
    J C Lewis
    J Med Genet 41:203-7. 2004
  31. doi request reprint Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3
    A R Dallosso
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Gut 57:1252-5. 2008
    ..MUTYH functions in the DNA base excision repair pathway and has a key role in the repair of oxidative DNA damage...
  32. ncbi request reprint Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog
    T Kobayashi
    Department of Experimental Pathology, Cancer Institute, 1 37 1 Kami Ikebukuro, Toshima ku, Tokyo 170, Japan
    Mamm Genome 8:554-8. 1997
    ..Characterization of the 5' region of Tsc2 and TSC2 will facilitate studies of the regulation of the gene and its disregulation in tumorigenesis...
  33. ncbi request reprint Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
    M van Slegtenhorst
    Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands
    Science 277:805-8. 1997
    ..In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor...
  34. ncbi request reprint Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish
    M M Maheshwar
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Mol Genet 5:131-7. 1996
    ..These findings support the proposal of the Fugu genome as a tool for human gene analysis...
  35. ncbi request reprint The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis
    M M Maheshwar
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Mol Genet 6:1991-6. 1997
    ..The high proportion of missense mutations detected in the region of the TSC2 gene encoding the GAP-related domain supports its key role in the regulation of cellular growth...
  36. ncbi request reprint Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome
    P T Brook-Carter
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Nat Genet 8:328-32. 1994
    ..Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected...
  37. ncbi request reprint Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin
    A K Hodges
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 10:2899-905. 2001
    ..These results indicate a requirement for interaction in critical growth suppressing functions of hamartin and tuberin...
  38. ncbi request reprint Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues
    L Xu
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
    Genomics 27:475-80. 1995
    ..The distinct polypeptides encoded by the TSC2 gene may have different targets as well as functions involved in the regulation of cell growth...
  39. ncbi request reprint Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
    A C Jones
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, UK
    Hum Mol Genet 6:2155-61. 1997
    ..We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC...
  40. pmc Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis
    A C Jones
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, United Kingdom
    Am J Hum Genet 64:1305-15. 1999
    ..These data provide the first representative picture of the distribution and spectrum of mutations across the TSC1 and TSC2 loci in clinically ascertained TSC and support a difference in severity of TSC1- and TSC2-associated disease...
  41. ncbi request reprint Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus
    J P Cheadle
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Mamm Genome 11:1135-8. 2000
  42. ncbi request reprint The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
    G Benvenuto
    Laboratory of Cellular Oncology, National Cancer Institute, Bethesda, Maryland, MD 20892, USA
    Oncogene 19:6306-16. 2000
    ..We conclude that hamartin is a growth inhibitory protein whose biological effect is likely dependent on its interaction with tuberin...
  43. ncbi request reprint Molecular genetic advances in tuberous sclerosis
    J P Cheadle
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Genet 107:97-114. 2000
    ..We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships...
  44. ncbi request reprint Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression
    T Soucek
    Obstetrics and Gynecology, University of Vienna, Prenatal Diagnosis and Therapy, , A-1090 Vienna, Austria
    Oncogene 20:4904-9. 2001
    ..These results demand reassessment of previous hypotheses of the pathogenesis of TSC...
  45. ncbi request reprint MutYH (MYH) and colorectal cancer
    J R Sampson
    Department of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 XN, UK
    Biochem Soc Trans 33:679-83. 2005
    ..However, the full genetic pathway of MAP tumorigenesis has not been elucidated...
  46. pmc Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas
    L Parry
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, CF14 4XN, UK
    Br J Cancer 85:1226-30. 2001
    ..These data indicate that biallelic inactivation of TSC1 or TSC2 is not frequent in sporadic RCC and suggests that the molecular mechanisms of renal carcinogenesis in TSC are likely to be distinct...
  47. ncbi request reprint Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
    J P Cheadle
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Hum Mol Genet 9:1119-29. 2000
    ..0023), and milder disease was associated with late as compared with early truncating mutations ( P = 0.0190)...
  48. pmc Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III
    R Aspinwall
    Medical Research Council Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Proc Natl Acad Sci U S A 94:109-14. 1997
    ..coli endonuclease III, and that this class of enzymes, for repair of oxidatively damaged pyrimidines in DNA, is highly conserved in evolution from microorganisms to human cells...
  49. pmc Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders
    J C Lewis
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, Wales, UK
    J Med Ethics 27:347-51. 2001
    ..As such studies differ from true multicentre studies, it may be advantageous to develop a separate and specific process of application to ensure that resources are not unnecessarily expended in the quest for ethical approval...
  50. ncbi request reprint Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online
    K Hasenpusch-Theil
    Imperial Cancer Research Fund, MAMM Rm 101, P O Box 123, London WC2A 3PX, England
    Hum Mutat 11:480. 1998
    ..All mutations lead to truncation of the predicted protein product. Also included is a list of putative polymorphic nucleotide postions in the sequence covered by published primers...
  51. pmc Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer
    S Dolwani
    Gut 56:593. 2007
  52. pmc Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas
    S Jones
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Br J Cancer 90:1591-3. 2004
    ..002), and all resulted in a glycine-to-cysteine substitution at codon 12...
  53. doi request reprint Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    H F A Vasen
    Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands
    Gut 57:704-13. 2008
    ..The guidelines described herein may be helpful in the appropriate management of FAP families. In order to improve the care of these families further, prospective controlled studies should be undertaken...