Gareth D Evans

Summary

Affiliation: Manchester Royal Infirmary
Country: UK

Publications

  1. ncbi request reprint BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
    Fiona Lalloo
    Department of Clinical, Genetics and Academic Unit of Medical Genetics, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom
    Eur J Cancer 42:1143-50. 2006
  2. doi request reprint Risk reducing mastectomy: outcomes in 10 European centres
    D G R Evans
    Central Manchester and Manchester Children s University Hospitals NHS Trust, St Mary s Hospital, Manchester, M13 0JH, UK
    J Med Genet 46:254-8. 2009
  3. pmc Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    CR UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, University of Cambridge, Cambridge, CB1 8RN, UK
    Breast Cancer Res 8:R72. 2006
  4. pmc Pathogenesis of vestibular schwannoma in ring chromosome 22
    Ellen Denayer
    Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    BMC Med Genet 10:97. 2009
  5. ncbi request reprint BRCA1/2 mutation analysis in male breast cancer families from North West England
    D G R Evans
    Academic Unit of Medical Genetics, National Genetics Reference Laboratory and Regional Genetic Service, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, UK
    Fam Cancer 7:113-7. 2008
  6. pmc Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk
    D Gareth R Evans
    University of Manchester and Central Manchester and Manchester Children s University Hospitals NHS Trust, St Mary s Hospital, UK
    Eur J Hum Genet 17:1381-5. 2009
  7. pmc Multiple meningiomas: differential involvement of the NF2 gene in children and adults
    D G R Evans
    Academic Unit of Department of Medical Genetics, National Genetics Reference Laboratory and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    J Med Genet 42:45-8. 2005
  8. pmc Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification
    D Gareth R Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    J Med Genet 44:424-8. 2007
  9. ncbi request reprint Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought
    D Gareth R Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, United Kingdom
    Otol Neurotol 26:93-7. 2005
  10. doi request reprint Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service
    D G Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Am J Med Genet A 152:327-32. 2010

Detail Information

Publications63

  1. ncbi request reprint BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
    Fiona Lalloo
    Department of Clinical, Genetics and Academic Unit of Medical Genetics, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom
    Eur J Cancer 42:1143-50. 2006
    ..The majority of families with ovarian cancer were due to mutations in BRCA1/2 whereas these mutations only accounted for 30-50% of the excess breast cancers...
  2. doi request reprint Risk reducing mastectomy: outcomes in 10 European centres
    D G R Evans
    Central Manchester and Manchester Children s University Hospitals NHS Trust, St Mary s Hospital, Manchester, M13 0JH, UK
    J Med Genet 46:254-8. 2009
    ..Increasingly women at high risk of breast cancer are opting for risk reducing surgery. The aim of this study was to assess the effectiveness of this approach in women at high risk in both carriers and non-carriers of BRCA1/2...
  3. pmc Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    CR UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, University of Cambridge, Cambridge, CB1 8RN, UK
    Breast Cancer Res 8:R72. 2006
    ..However, their effects among BRCA1 and BRCA2 mutation carriers is still under debate. We used retrospective data on BRCA1 and BRCA2 mutation carriers from the UK to assess the effects of parity-related variables on breast cancer risk...
  4. pmc Pathogenesis of vestibular schwannoma in ring chromosome 22
    Ellen Denayer
    Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    BMC Med Genet 10:97. 2009
    ..Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet...
  5. ncbi request reprint BRCA1/2 mutation analysis in male breast cancer families from North West England
    D G R Evans
    Academic Unit of Medical Genetics, National Genetics Reference Laboratory and Regional Genetic Service, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, UK
    Fam Cancer 7:113-7. 2008
    ..It is possible that at least some of these families may have mutations in other genes, although we found no involvement of CHEK2 1100delC...
  6. pmc Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk
    D Gareth R Evans
    University of Manchester and Central Manchester and Manchester Children s University Hospitals NHS Trust, St Mary s Hospital, UK
    Eur J Hum Genet 17:1381-5. 2009
    ..There were six ovarian cancer-related deaths in the control group compared with one in the surgery group. Risk-reducing salpingo-oophorectomy in a single institution has so far avoided peritoneal cancer incidence...
  7. pmc Multiple meningiomas: differential involvement of the NF2 gene in children and adults
    D G R Evans
    Academic Unit of Department of Medical Genetics, National Genetics Reference Laboratory and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    J Med Genet 42:45-8. 2005
    ..To screen for NF2 mutations in people with meningiomas...
  8. pmc Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification
    D Gareth R Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    J Med Genet 44:424-8. 2007
    ..Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission risks have not been fully elucidated...
  9. ncbi request reprint Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought
    D Gareth R Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, United Kingdom
    Otol Neurotol 26:93-7. 2005
    ..To determine the incidence of vestibular schwannoma (VS) in sporadic, neurofibromatosis type 2 (NF2) germ-line and mosaic form in a 10-year period...
  10. doi request reprint Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service
    D G Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Am J Med Genet A 152:327-32. 2010
    ..Estimates for NF1, NF2, FAP, and VHL are in line with previous estimates, and we provide the first estimates of birth incidence and de novo mutation rate for GS...
  11. ncbi request reprint Surgical decisions made by 158 women with hereditary breast cancer aged <50 years
    D G R Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Hathersage Road, Manchester, UK
    Eur J Surg Oncol 31:1112-8. 2005
    ..To establish the uptake of contralateral risk reducing mastectomy in women informed of their risks and options at time of diagnosis of their primary unilateral breast cancer...
  12. ncbi request reprint Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?
    D G R Evans
    Department of Medical Genetics, St Mary s Hospital, Manchester M13 0JH, UK
    Clin Genet 71:354-8. 2007
    ..Germ line mutation testing is probably only justified in sporadic unilateral VS <20 years unless other features of NF2 are present. Ideally mutation testing should start with the original tumour specimen...
  13. pmc Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes
    D G R Evans
    Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital SM2, Hathersage Road, Manchester, M13 OJH, UK
    J Med Genet 43:289-94. 2006
    ..This review indicates that much more caution is warranted regarding the use of radiation treatment for benign tumours in childhood and in tumour prone conditions such as the neurofibromatoses...
  14. pmc A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO
    D G R Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 41:474-80. 2004
    ..To develop a simple scoring system for the likelihood of identifying a BRCA1 or BRCA2 mutation...
  15. pmc Breast cancer risk-assessment models
    D Gareth R Evans
    Clinical Genetics, Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester M13 0JH, UK
    Breast Cancer Res 9:213. 2007
    ....
  16. pmc Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family
    D Gareth Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital Manchester M13 0JH, UK
    BMC Cancer 8:155. 2008
    ..However, considerable controversy exists regarding the cancer risks in women who test positive for the family mutation...
  17. doi request reprint Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives
    D G R Evans
    Academic Unit, Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Clin Genet 75:124-32. 2009
    ..Importance should be given to more proactive approaches to ensure that men in BRCA1/2-positive families receive the appropriate information...
  18. pmc Risk assessment and management of high risk familial breast cancer
    D G R Evans
    University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 39:865-71. 2002
    ..Mutation screening and predictive testing are now a reality for a minority of families, allowing for a more informed basis for decisions regarding management options...
  19. doi request reprint What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?
    D Gareth R Evans
    Academic Unit of Medical Genetics, Regional Genetics Service and National Genetics Reference Laboratory, St Mary s Hospital, Manchester, United Kingdom
    J Neurosurg 108:92-6. 2008
    ..The risk of bilateral disease and transmission risk to offspring are important in surgical planning and counseling. The authors have attempted to resolve these risks...
  20. doi request reprint Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families
    D G R Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Clin Genet 73:338-45. 2008
    ..In the UK, a higher proportion of families harbour BRCA2 pathogenic mutations than predicted from previous studies...
  21. ncbi request reprint Strategies for identifying hereditary nonpolyposis colon cancer
    D Gareth Evans
    Academic Unit of Medical Genetics, Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Semin Oncol 34:411-7. 2007
    ....
  22. pmc Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families
    D G R Evans
    Academic Unit of Medical Genetics, Regional Genetics Service, and National Genetics Reference Laboratory, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 40:e107. 2003
  23. pmc Are BRCA1- and BRCA2-related breast cancers associated with increased mortality?
    D Gareth Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Breast Cancer Res 6:E7. 2004
    ..Although the high contralateral breast cancer risk is confirmed by this study there is no real evidence for an increase in ipsilateral recurrence or new primary breast cancers in mutation carriers up to the 10-year point...
  24. pmc Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families
    D G R Evans
    Academic Unit of Medical Genetics, Regional Genetics Service and National Genetics Reference Laboratory, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 41:e21. 2004
  25. pmc Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status
    D G R Evans
    Manchester Academic Health Science Centre, Genetic Medicine, St Mary s Hospital, Central Manchester Hospitals Foundation Trust, Manchester M13 9WL, UK
    Br J Cancer 102:1091-8. 2010
    ..There are relatively few articles addressing long-term follow-up in women with breast cancer at very young ages...
  26. doi request reprint Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer
    Louise M Byrd
    Department of Medical Oncology, Academic Unit of Medical Genetics, St Mary s Hospital, Manchester, United Kingdom
    Cancer Epidemiol Biomarkers Prev 17:1535-42. 2008
    ..We have evaluated life expectancy using actuarial analysis and assessed the effect of breast and ovarian cancers on premature death in >1,000 BRCA1/2 carriers...
  27. pmc Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
    A Smith
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    J Med Genet 44:10-15. 2007
    ..One manifestation of this would be the presence of phenocopies in BRCA1/BRCA2 kindreds...
  28. ncbi request reprint Screening younger women with a family history of breast cancer--does early detection improve outcome?
    A Maurice
    Breast Cancer Family History Clinic, Nightingale Centre, Withington Hospital, South Manchester University Hospital Trust, Manchester, UK
    Eur J Cancer 42:1385-90. 2006
    ..These results strongly suggest that screening younger women with a family history of breast cancer leads to improved survival. More precise estimates of the benefit will accrue from further follow-up and other such studies...
  29. pmc Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas
    A Mohyuddin
    University Department of Medical Genetics and Regional Genetic Services, St Mary s Hospital, Hathersage Road, Manchester M13 OJH, UK
    J Med Genet 39:315-22. 2002
    ....
  30. doi request reprint Risk of breast cancer in male BRCA2 carriers
    D G R Evans
    Genetic Medicine, Manchester Academic Health Science Centre, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 47:710-1. 2010
    ..This analysis confirmed that breast cancer risk in men was 7.1% (SE 5.2-8.6%) by age 70 years and 8.4% (SE 6.2-10.6%) by age 80 years...
  31. ncbi request reprint Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes
    H Naseem
    Academic Unit of Medical Genetics, Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Clin Genet 70:388-95. 2006
    ..Many families are explicable by existing high-penetrance genes, and further work is necessary to elucidate whether the remainder is due to chance or as yet undiscovered genes...
  32. doi request reprint Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing
    D G R Evans
    University of Manchester, Central Manchester Foundation Hospital NHS Trust, St Mary s Hospital, Manchester, UK
    J Med Genet 46:811-7. 2009
    ..A number of computer-based models have been developed. However, use of these models can be time consuming and difficult. The Manchester scoring system was developed in 2003 to simplify the selection process without losing accuracy...
  33. ncbi request reprint Management of the patient and family with neurofibromatosis 2: a consensus conference statement
    D G R Evans
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Br J Neurosurg 19:5-12. 2005
    ....
  34. ncbi request reprint Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis
    A J Wallace
    National Genetics Reference Laboratory Manchester, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, UK
    Genet Test 8:368-80. 2004
    ..It has also allowed us to decrease our reporting turnaround times, and because of a low overall failure rate, permitted the running of an efficient and cost-effective service...
  35. ncbi request reprint The impact of new screening protocol on individuals at increased risk of colorectal cancer
    T Mak
    Department of General Surgery, Manchester Royal Infirmary, and Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Colorectal Dis 9:635-40. 2007
    ..Therefore, this study aims to compare the results of colonoscopic screening in HNPCC and intermediate risk groups and assess the effect of the most recent screening protocol recommendations...
  36. doi request reprint Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
    K D Hadfield
    Academic Unit of Medical Genetics, University of Manchester and Regional Genetics Service, Manchester, UK
    J Med Genet 45:332-9. 2008
    ..We aimed to establish the contribution of the SMARCB1 and the NF2 genes to sporadic and familial schwannomatosis in our cohort...
  37. pmc Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms
    D G R Evans
    University Department of Medical Genetics, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 42:630-2. 2005
    ..This pattern is consistent with an age related decline in the efficiency of DNA repair mechanisms. Similar studies for other familial cancer genes may provide further evidence for this hypothesis...
  38. ncbi request reprint Cancer genetics service provision: a comparison of seven European centres
    P Hopwood
    Psycho Oncology, Christie Hospital NHS Trust, Manchester, UK
    Community Genet 6:192-205. 2003
    ..Information was obtained on aspects of services both nationally and locally...
  39. doi request reprint Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent
    D Gareth R Evans
    Regional Genetic Service, The University of Manchester, St Mary s Hospital, Manchester, United Kingdom
    Cancer Epidemiol Biomarkers Prev 18:2318-24. 2009
    ..We have investigated the rate, timing, and age of uptake of surgery in the northwest of England to report the results after up to 7 years in a Regional Genetics center...
  40. doi request reprint The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis
    E K L Mallinson
    Department of Genetic Medicine, 6th Floor, St Mary s Hospital, Oxford Road, Manchester, UK
    Gut 59:1378-82. 2010
    ..The aim of this study was to assess the effect of screening and of the formation of the Registry on survival, incidence of CRC and age at onset of CRC, in FAP patients...
  41. pmc Eligibility for magnetic resonance imaging screening in the United Kingdom: effect of strict selection criteria and anonymous DNA testing on breast cancer incidence in the MARIBS Study
    D Gareth R Evans
    Genetic Medicine, University of Manchester, Manchester Academic Health Science Center, Central Manchester University Hospitals NHS Foundation Trust, St Mary s Hospital, Manchester, UK
    Cancer Epidemiol Biomarkers Prev 18:2123-31. 2009
    ..Selection criteria were used to identify women with at least 0.9% annual risk of breast cancer...
  42. pmc Malignant peripheral nerve sheath tumours in neurofibromatosis 1
    D G R Evans
    University Department of Medical Genetics, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 39:311-4. 2002
    ..Cross sectional studies have shown that 1-2% of patients with neurofibromatosis 1 (NF1) develop malignant peripheral nerve sheath tumours (MPNST). However, no population based longitudinal studies have assessed lifetime risk...
  43. ncbi request reprint Is clinical growth index a reliable predictor of tumour growth in vestibular schwannomas?
    A Mohyuddin
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Clin Otolaryngol Allied Sci 28:85-90. 2003
    ....
  44. pmc Neurofibromatosis type 1 and sporadic optic gliomas
    S Singhal
    Department of Medical Genetics, St Mary s Hospital, Manchester M13 0JH, UK
    Arch Dis Child 87:65-70. 2002
    ..To compare the natural history of sporadic optic glioma with those associated with neurofibromatosis type 1 (NF1)...
  45. ncbi request reprint Prediction of pathogenic mutations in patients with early-onset breast cancer by family history
    Fiona Lalloo
    Department of Clinical Genetics, St Mary s Hospital, Manchester, UK
    Lancet 361:1101-2. 2003
    ..Establishment of family history could help with development of patient-specific management and tumour surveillance protocols...
  46. doi request reprint Hormone replacement therapy and breast cancer
    Anthony Howell
    Genesis Prevention Centre, University Hospital of South Manchester, Manchester, UK
    Recent Results Cancer Res 188:115-24. 2011
    ..HRT may thus reduce the risk of breast cancer and other diseases (e.g., cardiovascular) in young women and increase or decrease them in older women...
  47. ncbi request reprint Molecular stool screening for colorectal cancer
    T Mak
    Department of General Surgery, Manchester Royal Infirmary, Manchester, UK
    Br J Surg 91:790-800. 2004
    ..This article reviews this innovation and discusses its clinical significance...
  48. pmc Predictors of the risk of mortality in neurofibromatosis 2
    Michael E Baser
    Department of Medical Genetics, University of British Columbia, Vancouver, United Kingdom
    Am J Hum Genet 71:715-23. 2002
    ..To ensure optimal care, we recommend that people with NF2 be referred to specialty treatment centers...
  49. doi request reprint Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]
    D Gareth R Evans
    Medical Genetics Research Group, Regional Genetics Service and National Molecular Genetics Reference Laboratory, Manchester University and Central Manchester Foundation Trust, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom
    Genet Med 11:599-610. 2009
    ..In the future, the development of tailored drug therapies aimed at the genetic level are likely to provide huge improvements for this devastating, life limiting condition...
  50. pmc Neurofibromatosis type 2 (NF2): a clinical and molecular review
    D Gareth R Evans
    Medical Genetics Research Group, Regional Genetics Service and National Molecular Genetics Reference Laboratory, Central Manchester Foundation Trust, St Mary s Hospital, Manchester M130JH, UK
    Orphanet J Rare Dis 4:16. 2009
    ..In the future, the development of tailored drug therapies aimed at the genetic level are likely to provide huge improvements for this devastating condition...
  51. ncbi request reprint Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy
    Saba Sharif
    Department of Clinical Genetics, St Mary s Hospital, Manchester, United Kingdom
    J Clin Oncol 24:2570-5. 2006
    ..Optic pathway gliomas (OPGs) are the most common CNS tumor in neurofibromatosis 1 (NF1) patients. We evaluated the long-term risk of second tumors in NF1-related OPGs after radiotherapy...
  52. ncbi request reprint Exploring the "two-hit hypothesis" in NF2: tests of two-hit and three-hit models of vestibular schwannoma development
    Ryan Woods
    Department of Statistics, University of British Columbia, Vancouver, Canada
    Genet Epidemiol 24:265-72. 2003
    ..Our findings suggest that more than two mutations may be necessary for VS development in NF2 patients...
  53. ncbi request reprint Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility
    Dewi Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham, UK
    Clin Endocrinol (Oxf) 59:728-33. 2003
    ..Germline mutations in three subunits of mitochondrial complex II (SDHB, SDHC and SDHD) may be associated with susceptibility to phaeochromocytoma (PC) and/or head and neck paraganglioma (HNPGL)...
  54. pmc Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study
    Michael E Baser
    Am J Hum Genet 75:231-9. 2004
    ..The type of constitutional NF2 mutation is an important determinant of the number of NF2-associated intracranial meningiomas, spinal tumors, and peripheral nerve tumors...
  55. ncbi request reprint Size and growth rate of sporadic vestibular schwannoma: predictive value of information available at presentation
    Amit Herwadker
    Imaging Science and Biomedical Engineering, School of Medicine, University of Manchester, United Kingdom
    Otol Neurotol 26:86-92. 2005
    ..The current study examines the hypothesis that tumor growth rate in sporadic vestibular schwannoma could be in part predicted by data available at diagnosis, such as tumor volume, patient age, laterality, and sex...
  56. ncbi request reprint Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2
    Patrick G Buckley
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    Hum Mutat 26:540-9. 2005
    ..We further describe missense mutations in the CABIN1 gene that are specific to samples from schwannomatosis and NF2 and make this gene a plausible candidate for contributing to the pathogenesis of these disorders...
  57. ncbi request reprint Mechanisms of Disease: prediction and prevention of breast cancer--cellular and molecular interactions
    Anthony Howell
    Dept of Medical Oncology, University of Manchester, Christie Hospital, Withington, UK
    Nat Clin Pract Oncol 2:635-46. 2005
    ..New approaches are required, however, not only to prevent the disease but to devise methods for their assessment that do not require very large and expensive clinical trials...
  58. ncbi request reprint Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer
    Timothy R Porter
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
    Oncogene 21:1928-33. 2002
    ....
  59. ncbi request reprint Increasing the specificity of diagnostic criteria for schwannomatosis
    Michael E Baser
    Neurology 66:730-2. 2006
    ..In this study, the authors use data from the population-based United Kingdom NF2 Registry to recommend modifications that increase the specificity of the schwannomatosis diagnostic criteria...
  60. ncbi request reprint Optimal selection of individuals for BRCA mutation testing
    D Gareth R Evans
    J Clin Oncol 24:3311; author reply 3311-2. 2006
  61. ncbi request reprint Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system
    Diane Stirling
    Macmillan Nurse Specialist in Genetics, Southeast of Scotland Clinical Genetic Services, Western General Hospital, Crewe Rd, Edinburgh, EH4 2XU Scotland
    J Clin Oncol 23:5588-96. 2005
    ..To assess the effectiveness of annual ovarian cancer screening (transvaginal ultrasound and serum CA-125 estimation) in detecting presymptomatic ovarian cancer in women at increased genetic risk...
  62. ncbi request reprint Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer
    James P Robinson
    Cancer Research UK Colorectal Cancer Unit, St Mark s Hospital, Harrow, HA1 3UJ, United Kingdom
    Cancer Epidemiol Biomarkers Prev 14:1460-3. 2005
    ..TFR gene polymorphism was not an independent risk factor and did not modify the disease risk associated with HFE mutation...
  63. doi request reprint A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
    Ian P M Tomlinson
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK
    Nat Genet 40:623-30. 2008
    ..3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. These data provide further evidence for the 'common-disease common-variant' model of CRC predisposition...