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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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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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Neurofibromatosis
Neurofibromatoses are made up of at least three autosomal dominantly inherited disorders, neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. For many years, these conditions we...
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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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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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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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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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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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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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Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme
Accurate individualized breast cancer risk assessment is essential to provide risk–benefit analysis prior to initiating interventions designed to lower breast cancer risk and start surveillance. We have previo...
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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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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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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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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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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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High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
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Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
Mutations of the SMARCB1 gene have been implicated in several human tumour predisposing syndromes. They have recently been identified as an underlying cause of the tumour suppressor syndrome schwannomatosis. Ther...
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Clinical Quiz: Diagnostic and Management Pitfalls of Neurocutaneous Disease
A child age 10 years presents with two café au lait patches and two skin lumps. What is the differential diagnosis? What investigations would you do?
