Genetic testing and screening of individuals at risk of NF2D G Evans
Department of Genetic Medicine, St Mary s Hospital, Manchester, UK
Clin Genet 82:416-24. 2012
..Screening with cranial magnetic resonance imaging is advised until the risk of NF2 falls below a pragmatic threshold of 1%. Multiple case scenarios are shown to illustrate how to use the protocol...
Malignant peripheral nerve sheath tumours in inherited diseaseD Gareth R Evans
Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St, Mary s Hospital, Oxford Road, Manchester, M13 9WL, UK
Clin Sarcoma Res 2:17. 2012
..abstract:..
- Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
Anna Marie Mulligan
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
Breast Cancer Res 13:R110. 2011
..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
- Assessing individual breast cancer risk within the U.K. National Health Service Breast Screening Program: a new paradigm for cancer prevention
D Gareth R Evans
Genesis Prevention Centre and Nightingale Breast Screening Centre, University Hospital of South Manchester, UK
Cancer Prev Res (Phila) 5:943-51. 2012
..7% of these were found to be eligible for a risk-reducing intervention. These results confirm the feasibility of determining breast cancer risk and acting on the information in the context of population-based mammographic screening...
- Life expectancy in hereditary cancer predisposing diseases: an observational study
Anna Wilding
Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary s Hospital, Central Manchester Hospitals Foundation Trust, Manchester, UK
J Med Genet 49:264-9. 2012
..Few studies have assessed the effect of these diseases on life expectancy. This study's aim was to assess this effect, and to test the hypothesis that genetic registers increase survival...
- Exploring the link between MORF4L1 and risk of breast cancer
Griselda Martrat
Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
Breast Cancer Res 13:R40. 2011
..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
- Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
Logan C Walker
Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
Breast Cancer Res 12:R102. 2010
..In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies...
- Assessing the usefulness of a novel MRI-based breast density estimation algorithm in a cohort of women at high genetic risk of breast cancer: the UK MARIBS study
Deborah J Thompson
Cancer Research UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge, CB1 8RN, UK
Breast Cancer Res 11:R80. 2009
....
- 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...
- 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...
- 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...
- 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...
- Childhood predictive genetic testing for Li-Fraumeni syndrome
D G Evans
Medical Genetics Research Group and Regional Genetics Service, University of Manchester and Central Manchester Foundation Hospital NHS Trust, St Mary s Hospital, Manchester, M13 0JH, UK
Fam Cancer 9:65-9. 2010
..However, as yet no evidence based surveillance programme has been identified. We describe our experience of childhood testing for four children in two Li-Fraumeni families caused by TP53 mutations...
- Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers
D G Evans
Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
J Med Genet 46:593-7. 2009
..To assess the effectiveness of annual ovarian cancer screening (transvaginal ultrasound and serum CA125 estimation) in reducing mortality from ovarian cancer in women at increased genetic risk. Patients and..
- BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries
D Gareth Evans
Genetic Medicine, St Mary s Hospital, Manchester Academic Health Science Centre, Central Manchester University Hospitals Foundation Trust, Manchester, UK
J Med Genet 47:561-6. 2010
....
- 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...
- Uptake of breast cancer prevention and screening trials
D Gareth Evans
Genesis Prevention Centre, University Hospital of South Manchester NHS Trust, Manchester, UK
J Med Genet 47:853-5. 2010
..Uptake of cancer trials and in particular prevention trials has been disappointing globally...
- 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...
- Neurofibromatosis type 2
Gareth R Evans
Medical Genetics Research Group, Regional Genetics Service and National Molecular Genetics Reference Laboratory, Manchester Academic Health Sciences Centre, Central Manchester Universities Foundation Trust, St Mary s Hospital, Manchester, UK
Adv Otorhinolaryngol 70:91-8. 2011
..We are seeing the advent of tailored drug therapies aimed at the genetic level and these are likely to provide huge improvements for this devastating, life limiting condition...
- Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989
D Gareth R Evans
Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary s Hospital, Central Manchester Hospitals Foundation Trust, Manchester, UK
Eur J Hum Genet 19:1187-91. 2011
..Limitations relating to the underreporting of NF1 on death certificates were once again highlighted and should be considered in future investigations...
BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relativesFiona 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...
- 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...
- 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...
- 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...
- 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...
- Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
Miriam J Smith
Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Manchester M13 9WL, UK
Neurogenetics 13:141-5. 2012
..SMARCB1 mutations are found in a significant proportion of schwannomatosis patients, but there remains the possibility that further causative genes remain to be found...
- Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset
Miriam J Smith
Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Center, University of Manchester, Oxford Road, Manchester M13 9WL, UK
J Med Genet 48:261-5. 2011
..The spectrum of NF2 mutations consists mainly of truncating (nonsense and frameshift) mutations. A smaller number of patients have missense mutations, which are associated with a milder disease phenotype...
- 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
....
- 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...
- 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...
- Malignant peripheral nerve sheath tumours in NF1: improved survival in women and in recent years
Sarah Ingham
Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary s Hospital, UK
Eur J Cancer 47:2723-8. 2011
..These uncommon tumours are known to occur at high frequency and lead to poor survival. Our aim was to determine risk of MPNST in NF1 patients, and survival rates...
- 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...
- 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...
- 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
..Thus radiotherapy should only be used if absolutely essential in children with NF1...
- 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
..This indicates that the clinical features available at presentation and diagnosis have no power to predict the expected behavior of sporadic vestibular schwannoma...
- 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...
- 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...
- 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...
- 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
- RASSF1A polymorphism in familial breast cancer
J Bergqvist
Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, M13 9WL, UK
Fam Cancer 9:263-5. 2010
..26), BRCA2 (P = 0.16) or BRCA negative (P = 0.30) samples. Hence, the RASSF1A p.A331S polymorphism is not confirmed as a significant germline contributor to familial breast cancer susceptibility...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
- 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...
- 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...
- 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...
- 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...
- A protocol for preventative mastectomy in women with an increased lifetime risk of breast cancer
F Lalloo
Family History Clinic, Christie NHS Trust, Manchester, UK
Eur J Surg Oncol 26:711-3. 2000
..A time delay is deliberate to allow women to fully address the issues involved with a decision for surgery. Early evidence suggests that this prepares the women emotionally and physically for their surgery...
- Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis
D G Evans
Department of Medical Genetics, St Mary s Hospital, Manchester, M13 0JH, United Kingdom
Am J Hum Genet 63:727-36. 1998
..Degrees of gonosomal mosaicism mean that recurrence risks may well be <50% in the index case when a mutation is not identified in lymphocyte DNA...
- High detection rate for BRCA2 mutations in male breast cancer families from North West England
D G Evans
University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Hathersage Road, Manchester, UK
Fam Cancer 1:131-3. 2001
..All 3 families with ovarian cancer and 3 families with multiple male breast cancer cases had BRCA2 mutations. These data are a further guide to how to prioritise samples for BRCA2 mutation analysis...
- Further genotype--phenotype correlations in neurofibromatosis 2
S K Selvanathan
Department of Genetics, St Mary s Hospital, Manchester, UK
Clin Genet 77:163-70. 2010
..Therefore patients with this class of NF2 mutation should be followed up closely...
- 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...
- 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...
- A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations
Saba Sharif
Department of Clinical Genetics, West Midlands Regional Genetics Unit, Birmingham, UK
J Med Genet 48:256-60. 2011
..A genotype-phenotype correlation may help to determine who is at risk of developing these tumours, aid focused screening, and shed light on response to treatments...
- 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...
- 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...
- 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...
- 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
....
- 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
..Aggressive treatment of sporadic optic gliomas and early surveillance of NF1 optic gliomas may be required. The use of radiotherapy in these children requires further clarification...
- 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...
- 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...
- 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...
- The impact of genetic counselling on risk perception in women with a family history of breast cancer
D G Evans
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK
Br J Cancer 70:934-8. 1994
..Post-counsel women were significantly more likely to retain information if they were sent a post-clinic letter or if they assessed their personal risk as too high initially...
- Cost analysis of biomarker testing for mismatch repair deficiency in node-positive colorectal cancer
E Barrow
Department of General Surgery, Manchester Royal Infirmary, St Mary s Hospital, Manchester, UK
Br J Surg 95:868-75. 2008
..The evidence suggests that patients with tumours caused by defective DNA MMR do not benefit from 5-fluorouracil (5-FU)-based chemotherapy...
- The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma
R Cowan
CRC Department of Cancer Genetics, Christie Hospital, Manchester, UK
Br J Cancer 76:141-5. 1997
..Information from these families would suggest that Gorlin syndrome is more common than previously recognized and may not always be diagnosed on clinical grounds alone even in middle life...
- 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...
- Risk of subsequent primary cancers in patients with carcinoma of the Ampulla of Vater
A Moran
Centre for Cancer Epidemiology, University of Manchester, Christie Hospital NHS Trust, UK
Br J Cancer 76:1232-3. 1997
..Four cancers were identified compared with 6.62 expected (relative risk 0.60), suggesting that individuals with ampullary carcinoma are not at increased risk of developing subsequent primary cancers...
- APC mutations in familial adenomatous polyposis families in the Northwest of England
J G Armstrong
Department of Medical Genetics, St Mary s Hospital, Manchester, UK
Hum Mutat 10:376-80. 1997
..Although the frequency of the most common mutation appears low, it is not dissimilar to that reported by other groups...
- Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations
E Barrow
Department of General Surgery, Manchester Royal Infirmary, Manchester, UK
Clin Genet 74:233-42. 2008
..Current colonoscopic screening guidelines are appropriate...
- Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme
E Amir
University of Manchester, UK
J Med Genet 40:807-14. 2003
..The Gail, Claus, and Ford models all significantly underestimate risk, although the accuracy of the Claus model may be improved by adjustments for other risk factors...
- Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations
D Speake
Colorectal Unit, Department of Surgery, Manchester Royal Infirmary, Manchester, UK
Br J Surg 94:1009-13. 2007
....
- 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...
- Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation
C Warren
Cancer Research UK Department of Cancer Genetics, The Paterson Institute for Cancer Research, Manchester, UK
J Med Genet 40:802-6. 2003
..CONCLUSIONS: These findings should be verified using techniques that can detect smaller genetic changes, such as microarray-CGH...
- Diagnostic issues in a family with late onset type 2 neurofibromatosis
D G Evans
Department of Medical Genetics, St Mary s Hospital, Manchester, UK
J Med Genet 32:470-4. 1995
..There appears to be an autosomal dominant form of spinocerebellar degeneration which is segregating separately to NF2 in this family, which created a diagnostic dilemma...
- Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas
K D Hadfield
Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK
Oncogene 29:6216-21. 2010
..We found no evidence of MR in SMARCB1-positive schwannomatosis, suggesting that susceptibility to MR varies according to the disease context...
- Cost-effectiveness of screening with contrast enhanced magnetic resonance imaging vs X-ray mammography of women at a high familial risk of breast cancer
I Griebsch
MRC Health Services Research Collaboration, Department of Social Medicine, University of Bristol, Bristol, and Nightingale Centre, Withington Hospital, Manchester, UK
Br J Cancer 95:801-10. 2006
..Further work is needed to assess the impact of screening on mortality and health-related quality of life...
