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Molecular pathology of Lynch syndrome

The Journal of pathology, 2020-04, Vol.250 (5), p.518-531

2020

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The NF1 somatic mutational landscape in sporadic human cancers

Human genomics, 2017-06, Vol.11 (1), p.13-13, Article 13

2017

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Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation

Health technology assessment (Winchester, England), 2017-09, Vol.21 (51), p.1-238

2017

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DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome

Histopathology, 2010-01, Vol.56 (2), p.167-179

2010

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Lynch syndrome – cancer pathways, heterogeneity and immune escape

The Journal of pathology, 2018-10, Vol.246 (2), p.129-133

2018

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The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

PLoS medicine, 2020-09, Vol.17 (9), p.e1003263-e1003263

2020

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Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting

PloS one, 2019-08, Vol.14 (8), p.e0221419-e0221419

2019

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High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization

Clinical cancer research, 2008-02, Vol.14 (4), p.1015-1024

2008

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A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome

BMC cancer, 2017-12, Vol.17 (1), p.836-836, Article 836

2017

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Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

Journal of medical genetics, 2018-06, Vol.55 (6), p.372-377

2018

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Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank

Journal of medical genetics, 2024-09, Vol.61 (9), p.861-869

2024

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A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan

Journal of investigative dermatology, 2016-04, Vol.136 (4), p.869-872

2016

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Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar

Journal of medical genetics, 2024-05, Vol.61 (8), p.810-812

2024

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

Gut, 2017-09, Vol.66 (9), p.1657-1664

2017

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Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk

Journal of medical genetics, 2023-11, Vol.60 (11), p.1035-1043

2023

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Gastric tumours in FAP

Familial cancer, 2017-07, Vol.16 (3), p.363-369

2017

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Getting It Right with Lynch Syndrome Genetic and Phenotypic Diagnosis

Human mutation, 2015-06, Vol.36 (6), p.iii-iii

Frayling, Ian M.

2015

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human mutation, 2015-11, Vol.36 (11), p.1052-1063

2015

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Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.529-538

2024

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The predicted impact and cost‐effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome

Medical journal of Australia, 2020-02, Vol.212 (2), p.72-81

2020

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Challenges in molecular diagnosis of Wilson disease

Journal of clinical pathology, 2020-04, Vol.73 (4), p.181-182

2020

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Molecular pathology of Lynch syndrome

The NF1 somatic mutational landscape in sporadic human cancers

Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation

DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome

Lynch syndrome – cancer pathways, heterogeneity and immune escape

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting

High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization

A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan

Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar

Pathways to a cancer-free future: a protocol for modelled evaluations to minimise the future burden of colorectal cancer in Australia

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

Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk

Gastric tumours in FAP

Getting It Right with Lynch Syndrome Genetic and Phenotypic Diagnosis

From doctors as patients: a manifesto for tackling persisting symptoms of covid-19

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway

The predicted impact and cost‐effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome

Challenges in molecular diagnosis of Wilson disease

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

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