Search Results - "Evans, D. Gareth R."
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Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
Published in The New England journal of medicine (04-06-2015)“…An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer. It is difficult…”
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Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome
Published in Clinical cancer research (15-06-2017)“…Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain…”
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3
Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer
Published in Breast cancer research and treatment (01-07-2013)“…BRCA1/2 mutation carriers with breast cancer are at high risk of contralateral disease. Such women often elect to have contralateral risk-reducing mastectomy…”
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Mammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort
Published in Breast cancer research : BCR (01-12-2015)“…The Predicting Risk of Cancer at Screening study in Manchester, UK, is a prospective study of breast cancer risk estimation. It was designed to assess whether…”
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Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood
Published in Clinical cancer research (01-07-2017)“…Hereditary gastrointestinal cancer predisposition syndromes have been well characterized, but management strategies and surveillance remain a major challenge,…”
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Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction
Published in JAMA oncology (01-04-2018)“…Single-nucleotide polymorphisms (SNPs) have demonstrated an association with breast cancer susceptibility, but there is limited evidence on how to incorporate…”
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7
Loss of SUFU Function in Familial Multiple Meningioma
Published in American journal of human genetics (07-09-2012)“…Meningiomas are the most common primary tumors of the CNS and account for up to 30% of all CNS tumors. An increased risk of meningiomas has been associated…”
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Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral
Published in Breast cancer research and treatment (01-12-2013)“…The aim of this study was to establish if risk-reducing surgery (RRS) increases survival among BRCA1 / 2 carriers without breast/ovarian cancer at the time of…”
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Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989
Published in European journal of human genetics : EJHG (01-11-2011)“…Neurofibromatosis 1 (NF1) is a comparatively common autosomal dominant disorder. However, relatively few studies have assessed lifetime risk; and information…”
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Second Primary Tumors in Neurofibromatosis 1 Patients Treated for Optic Glioma: Substantial Risks After Radiotherapy
Published in Journal of clinical oncology (01-06-2006)“…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…”
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Uptake of Risk-Reducing Surgery in Unaffected Women at High Risk of Breast and Ovarian Cancer Is Risk, Age, and Time Dependent
Published in Cancer epidemiology, biomarkers & prevention (01-08-2009)“…Purpose: The uptake of risk-reducing surgery in women at increased risk of breast and ovarian cancer is highly variable between countries and centers within…”
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Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
Published in Neurogenetics (01-05-2012)“…Mutations of the SMARCB1 gene have been implicated in several human tumour predisposing syndromes. They have recently been identified as an underlying cause of…”
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13
Relative frequency and morphology of cancers in carriers of germline TP53 mutations
Published in Oncogene (02-08-2001)“…The spectrum and frequency of cancers associated with germline TP53 mutations are uncertain. To address this issue a cohort of individuals from 28 families…”
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Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
Published in Clinical cancer research (01-06-2017)“…Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the tumor suppressor gene encoding p53, a…”
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Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1
Published in Clinical cancer research (15-06-2017)“…Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and…”
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Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2‐related schwannomatosis
Published in Clinical genetics (01-05-2023)“…Genetic testing and management of individuals at risk for NF2‐related schwannomatosis is complicated by the high rate of mosaicism resulting in a milder, later…”
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Neurofibromatosis type 2 (NF2): a clinical and molecular review
Published in Orphanet journal of rare diseases (19-06-2009)“…Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially…”
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Increasing the specificity of diagnostic criteria for schwannomatosis
Published in Neurology (14-03-2006)“…Diagnostic criteria for schwannomatosis have been proposed in a recent consensus statement. These criteria permit schwannomatosis to be distinguished from…”
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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
Published in Journal of clinical oncology (20-08-2005)“…To assess the effectiveness of annual ovarian cancer screening (transvaginal ultrasound and serum CA-125 estimation) in detecting presymptomatic ovarian cancer…”
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A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma
Published in British journal of cancer (09-11-2022)“…Background A vestibular schwannoma (VS) is a relatively rare, benign tumour of the eighth cranial nerve, often involving alterations to the gene NF2 . Previous…”
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