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Management of the patient and family with neurofibromatosis 2: a consensus conference statement

British journal of neurosurgery, 2005-02, Vol.19 (1), p.5-12

2005

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Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study

American journal of human genetics, 2004-08, Vol.75 (2), p.231-239

2004

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Li-Fraumeni syndrome - a molecular and clinical review

British journal of cancer, 1997-07, Vol.76 (1), p.1-14

1997

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Neurofibromatosis type 2

Journal of Medical Genetics, 2000-12, Vol.37 (12), p.897-904

2000

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Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations

Journal of medical genetics, 1998-06, Vol.35 (6), p.450-455

1998

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Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]

Genetics in medicine, 2009-09, Vol.11 (9), p.599-610

Evans, D Gareth R

2009

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Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

International journal of epidemiology, 2022-01, Vol.50 (6), p.1897-1911

2022

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A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

Journal of medical genetics, 1992-12, Vol.29 (12), p.841-846

1992

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Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS)

The Lancet (British edition), 2005-05, Vol.365 (9473), p.1769-1778

2005

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Reproductive decision-making in young female carriers of a BRCA mutation

Human reproduction (Oxford), 2013-04, Vol.28 (4), p.1006-1012

2013

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Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes

Journal of Medical Genetics, 2006-04, Vol.43 (4), p.289-294

2006

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Abstract PD1-05: Transgenerational epigenetic silencing of BRCA1 due to a germline variant unmasks a new mechanism for familial breast and ovarian cancer

Cancer research (Chicago, Ill.), 2018-02, Vol.78 (4_Supplement), p.PD1-05-PD1-05

2018

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The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

European journal of epidemiology, 2019-06, Vol.34 (6), p.591-600

2019

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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

Journal of medical genetics, 2007-07, Vol.44 (7), p.424-428

2007

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From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1098-1106

2019

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BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives

European journal of cancer (1990), 2006-05, Vol.42 (8), p.1143-1150

2006

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Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

The Lancet (British edition), 2003-03, Vol.361 (9363), p.1101-1102

2003

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Abstract P3-08-01: The prospective risk of ovarian cancer in 1433 women in a breast cancer family history clinic: no increased risk in families testing negative for BRCA1 and BRCA2

Cancer research (Chicago, Ill.), 2012-12, Vol.72 (24_Supplement), p.P3-P3-08-01

2012

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Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA I or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women

British journal of cancer, 2012, Vol.106 (4), p.775-779

2012

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Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK

Clinical genetics, 2013-07, Vol.84 (1), p.37-42

2013

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Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families

Clinical genetics, 2008-04, Vol.73 (4), p.338-345

2008

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Neurofibromatosis 2

Current opinion in neurology, 2003-02, Vol.16 (1), p.27-33

2003

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Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Application of clinical genetics, 2013-01, Vol.6 (default), p.53-61

2013

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Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCAI/BRCA2/ TP53 status

British journal of cancer, 2010, Vol.102 (7), p.1091-1098

2010

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Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

Clinical genetics, 2007-04, Vol.71 (4), p.354-358

2007

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Management of the patient and family with neurofibromatosis 2: a consensus conference statement

Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study

Li-Fraumeni syndrome - a molecular and clinical review

Neurofibromatosis type 2

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations

Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]

Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS)

Reproductive decision-making in young female carriers of a BRCA mutation

Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes

Abstract PD1-05: Transgenerational epigenetic silencing of BRCA1 due to a germline variant unmasks a new mechanism for familial breast and ovarian cancer

The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

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

From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives

Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

Abstract P3-08-01: The prospective risk of ovarian cancer in 1433 women in a breast cancer family history clinic: no increased risk in families testing negative for BRCA1 and BRCA2

Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA I or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women

Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK

Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families

Neurofibromatosis 2

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCAI/BRCA2/ TP53 status

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

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