20 Result(s)
within
D Gareth R Evans
Oncology
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Article
Open AccessA mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma
A vestibular schwannoma (VS) is a relatively rare, benign tumour of the eighth cranial nerve, often involving alterations to the gene NF2. Previous mathematical models of schwannoma incidence have not attempted t...
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Article
BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
National guidelines recommend testing all cases of non-mucinous epithelial ovarian cancer (NMEOC) for germline (blood) and somatic (tumour) BRCA1/2 pathogenic variants (PVs). We performed paired germline and soma...
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Open AccessBreast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants
To improve breast cancer risk stratification to enable more targeted early detection/prevention strategies that will better balance risks and benefits of population screening programmes.
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Article
Open AccessPARP inhibitors in platinum-sensitive high-grade serous ovarian cancer
Poly(ADP-ribose) polymerase inhibitors (PARPi) have changed the management of high-grade serous ovarian cancer (HGSOC). The rationale for the development of PARPi was based on the concept of synthetic lethalit...
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Article
Open AccessGenetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, whic...
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Article
Open AccessIntermittent energy restriction induces changes in breast gene expression and systemic metabolism
Observational studies suggest weight loss and energy restriction reduce breast cancer risk. Intermittent energy restriction (IER) reduces weight to the same extent as, or more than equivalent continuous energy...
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Article
Open AccessBreast cancer risk feedback to women in the UK NHS breast screening population
There are widespread moves to develop risk-stratified approaches to population-based breast screening. The public needs to favour receiving breast cancer risk information, which ideally should produce no detri...
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Article
Open AccessMammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort
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 mammographic density may help in refinement of bre...
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Open AccessThe Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services
It is frequent for news items to lead to a short lived temporary increase in interest in a particular health related service, however it is rare for this to have a long lasting effect. In 2013, in the UK in pa...
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Cranial Meningioma in Neurofibromatosis Type 2 Patients: Role of Mutations
Meningiomas are the most common form of primary intracranial tumour in adults and are associated with the neurogenetic syndrome neurofibromatosis type 2 (NF2). Somatic mutations of the NF2 gene are found in the m...
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Article
Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral
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 family referral. Female BRCA1/2 carriers were identifie...
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Article
Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer
BRCA1/2 mutation carriers with breast cancer are at high risk of contralateral disease. Such women often elect to have contralateral risk-reducing mastectomy (CRRM) to reduce the likelihood of re...
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Article
Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives
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Article
Open AccessMalignant peripheral nerve sheath tumours in inherited disease
Malignant peripheral nerve sheath tumours (MPNST) are rare tumours known to occur at high frequency in neurofibromatosis 1 (NF1), but may also occur in other cancer prone syndromes.
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Article
High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
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Article
Breast cancer risk-assessment models
There are two main questions when assessing a woman for interventions to reduce her risks of develo** or dying from breast cancer, the answers of which will determine her access: What are her chances of carr...
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Article
Mechanisms of Disease: prediction and prevention of breast cancer—cellular and molecular interactions
Breast cancer is a multifactorial condition, and changes in cellular biology are affected by a large number of variables known to affect an individual's susceptibility to this malignancy. Current risk predicti...
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Article
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer
The molecular basis for most non-HNPCC familial colorectal cancer cases is unknown, but there is increasing evidence that common genetic variants may play a role. We investigated the contribution of polymorphi...
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Article
Relative frequency and morphology of cancers in carriers of germline TP53 mutations
The spectrum and frequency of cancers associated with germline TP53 mutations are uncertain. To address this issue a cohort of individuals from 28 families with Li-Fraumeni syndrome, segregating germline TP53 ...
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Article
The pathology of familial breast cancer: Clinical and geneticcounselling implications of breast cancer pathology
Approximately 5% of all breast cancers are due to one of the high-risk breast cancer genes BRCA1 and BRCA2, or possibly to a third or fourth moderate- to high-risk gene(s). A further proportion of cases arise in ...
