D. Evans

发表

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

J. Schuurs-Hoeijmakers, M. Genuardi, T. Kleefstra, 2022, European journal of medical genetics.

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.

J. Ledermann, S. Loibl, B. Lemley, 2022, Annals of oncology : official journal of the European Society for Medical Oncology.

A Targeted, Low-Throughput Compound Screen in a Drosophila Model of Neurofibromatosis Type 1 Identifies Simvastatin and BMS-204352 as Potential Therapies for Autism Spectrum Disorder (ASD)

Alex Dyson, S. Garg, R. Baines, 2022, eNeuro.

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

A. Antoniou, Aarti Sharma, K. Williamson, 2022, Journal of Medical Genetics.

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

R. Ramsden, S. Holder, C. Rustad, 2012, American journal of medical genetics. Part A.

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Aarti Sharma, Naveena Singh, A. Mcguire, 2022, Journal of Medical Genetics.

Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome *

S. Eyre, Z. Miedzybrodzka, J. Lear, 2022, The British journal of dermatology.

Gene panel testing for breast cancer should not be used to confirm syndromic gene associations

D. Evans, J. Peltonen, I. Frayling, 2018, npj Genomic Medicine.

Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers

A. Howell, E. Harkness, F. Lalloo, 2022, Journal of Medical Genetics.

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

A. Stemmer-Rachamimov, B. Korf, D. Evans, 2013, American journal of medical genetics. Part A.

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

E. Schröck, C. Lázaro, G. Capellá, 2020, European Journal of Human Genetics.

Intronic splicing mutations in PTCH1 cause Gorlin syndrome

D. Evans, W. Newman, E. Miles, 2014, Familial Cancer.

National survey of patients with Gorlin syndrome highlights poor awareness, multiple treatments and profound psychosocial impact of disease

J. Lear, N. Collier, F. Ali, 2016, Journal of the European Academy of Dermatology and Venereology : JEADV.

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

E. Schröck, C. Lázaro, G. Capellá, 2022, The Lancet. Oncology.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

Update from the 2013 international neurofibromatosis conference

Michael Fisher, A. Lloyd, A. Stemmer-Rachamimov, 2014, American journal of medical genetics. Part A.

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

A. Hoischen, E. Schröck, A. Rump, 2021, European Journal of Human Genetics.

Lynch syndrome screening in gynaecological cancers: results of an international survey with recommendations for uniform reporting terminology for mismatch repair immunohistochemistry results

C. Gilks, T. Bosse, M. Arends, 2019, Histopathology.

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Gary D. Bader, Christine L. Clarke, Gary D Bader, 2020, Nature Communications.

Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey

D. Evans, F. Lalloo, T. Clancy, 2015, Clinical genetics.

Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation

G. Burghel, M. Smith, D. Evans, 2023, Journal of Medical Genetics.

Comments on “The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients”

C. Kratz, D. Evans, 2023, International Journal of Cancer.

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

M. Kuhlen, A. Kelsey, F. Lalloo, 2021, Familial Cancer.

Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.

J. Schuurs-Hoeijmakers, C. Houdayer, S. Aretz, 2022, Journal of the National Cancer Institute.

Naevoid basal cell carcinoma syndrome

D. Evans, 2022, Clinical Ophthalmic Genetics and Genomics.

A genetic register for von Hippel-Lindau disease.

R. Whitehouse, D. Evans, M. Teare, 1996, Journal of medical genetics.

Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer

D. Malkin, C. Kratz, D. Evans, 2021, Familial Cancer.

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

Siân Jones, D. Evans, J. Maynard, 2003, The Lancet.

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

S. Seal, M. Stratton, N. Rahman, 2007, Nature Genetics.

Cancer phenotype correlates with constitutional TP53 genotype in families with the Li–Fraumeni syndrome

D. Evans, J. Varley, J. Birch, 1998, Oncogene.

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

N. Camp, K. Czene, K. Humphreys, 2023, Cancers.

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes

D. Gareth Evans, M. Smith, C. Perez-Becerril, 2021, Human mutation.

Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers.

F. Couch, T. Rebbeck, R. Eeles, 2007, Clinical breast cancer.

Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

A. Craft, M. Santibanez-Koref, P. H. Jones, 1994, Cancer research.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

James M. Hodge, E. Burnside, Y. Kamatani, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

Re‐evaluation of missense variant classifications in NF2

L. Messiaen, A. Wallace, N. Roberts, 2022, Human mutation.

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

S. Eyre, W. Newman, Z. Miedzybrodzka, 2022, medRxiv.

Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

Andrew Shenton, Mohammed Imran Sajid, D. Evans, 2010, Journal of skin cancer.

Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21

S. Eyre, J. Bowes, S. Rutherford, 2022, Brain : a journal of neurology.

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

R. Eeles, D. Evans, M. Watson, 2011, European Journal of Human Genetics.

Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study)

D. Eccles, D. Evans, J. Birch, 2019, The journal of pathology. Clinical research.

Disease course of Neurofibromatosis Type 2; a 30-year follow-up study of 353 patients seen at a single institution.

D. Evans, M. McCabe, E. Harkness, 2020, Neuro-oncology.

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

Nazneen Rahman, Carel Meijers, Sheila Seal, 2003, American journal of human genetics.

Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.

D. Evans, N. Thakker, T. Clancy, 1993, Gut.

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.

A. Patenaude, L. Strong, M. Greene, 2012, Cancer genetics.

Common breast cancer risk loci predispose to distinct tumor subtypes

Jack A. Taylor, S. Cross, P. Fasching, 2019, bioRxiv.

First evidence of genotype–phenotype correlations in Gorlin syndrome

D. Evans, W. Newman, J. Lear, 2017, Journal of Medical Genetics.

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Communications.

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Katherine M. Tucker, W. Chung, R. Nussbaum, 2018, Journal of the National Cancer Institute.

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.

Julian Peto, Sergi Castellví-Bel, Jean-Baptiste Cazier, 2008, Human molecular genetics.

Increased risk of breast cancer in neurofibromatosis type 1: current insights

D. Evans, S. Howell, Z. Salih, 2017, Breast cancer.

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

D. Evans, W. Newman, S. Roberts, 2014, European Journal of Human Genetics.

Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Jonathan Green, S. Huson, E. Legius, 2014, Journal of Autism and Developmental Disorders.

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

P. Møller, E. Hovig, S. Nakken, 2016, Gut.

MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1

F. Lalloo, E. Crosbie, E. Woodward, 2023, Journal of Medical Genetics.

Lynch syndrome for the gynaecologist

M. Seif, D. Evans, E. Crosbie, 2020, The obstetrician & gynaecologist : the journal for continuing professional development from the Royal College of Obstetricians & Gynaecologists.

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161

E. Woodward, M. Smith, D. Evans, 2023, Familial Cancer.