Publications by authors named "Ian M Frayling"

39Publications

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2020 Sep;22(9):1569

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-020-0892-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462742PMC
September 2020

Molecular pathology of Lynch syndrome.

J Pathol 2020 04;250(5):518-531

Inherited Tumour Syndromes Research Group, Institute of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1002/path.5422DOI Listing
April 2020

Challenges in molecular diagnosis of Wilson disease.

J Clin Pathol 2020 04 14;73(4):181-182. Epub 2020 Feb 14.

Clinical Chemistry, St. Vincent's University Hospital, Dublin, Ireland

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http://dx.doi.org/10.1136/jclinpath-2019-206215DOI Listing
April 2020

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

PLoS One 2019 30;14(8):e0221419. Epub 2019 Aug 30.

Exeter Test Group, University of Exeter Medical School, University of Exeter, Exeter, Devon, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0221419PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716649PMC
March 2020

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2020 01 24;22(1):15-25. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371626PMC
January 2020

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

NPJ Genom Med 2018 26;3:32. Epub 2018 Nov 26.

7Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.

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http://dx.doi.org/10.1038/s41525-018-0071-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6255919PMC
November 2018

Lynch syndrome - cancer pathways, heterogeneity and immune escape.

J Pathol 2018 10 27;246(2):129-133. Epub 2018 Aug 27.

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1002/path.5139DOI Listing
October 2018

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 8;17(1):836. Epub 2017 Dec 8.

Peninsula Technology Assessment Group (PenTAG), University of Exeter Medical School, South Cloisters, St Lukes Campus, Heavitree Road, Exeter, Devon, EX1 2LU, UK.

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http://dx.doi.org/10.1186/s12885-017-3820-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723028PMC
December 2017

The NF1 somatic mutational landscape in sporadic human cancers.

Hum Genomics 2017 06 21;11(1):13. Epub 2017 Jun 21.

Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1186/s40246-017-0109-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480124PMC
June 2017

Gastric tumours in FAP.

Fam Cancer 2017 07;16(3):363-369

The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, London, UK.

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http://dx.doi.org/10.1007/s10689-017-9966-0DOI Listing
July 2017

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

J Invest Dermatol 2016 Apr 29;136(4):869-872. Epub 2015 Dec 29.

National Xeroderma Pigmentosum Service, Department of Photodermatology, St. John's Institute of Dermatology, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2015.12.031DOI Listing
April 2016

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

JAMA Oncol 2016 Mar;2(3):373-9

Department of Medical Genetics, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, England.

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http://dx.doi.org/10.1001/jamaoncol.2015.4771DOI Listing
March 2016

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

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.

Eur J Hum Genet 2015 Jan 23;23(1):67-71. Epub 2014 Apr 23.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1038/ejhg.2014.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266742PMC
January 2015

DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome.

Histopathology 2010 Jan;56(2):167-79

Department of Pathology, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1111/j.1365-2559.2009.03392.xDOI Listing
January 2010

Unusual presentation of Lynch Syndrome.

Hered Cancer Clin Pract 2009 Jun 3;7(1):12. Epub 2009 Jun 3.

Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, Fulham Road, London, SW3 6JJ, UK.

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http://dx.doi.org/10.1186/1897-4287-7-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696413PMC
June 2009

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH.

Fam Cancer 2005 ;4(2):145-9

Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK.

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http://dx.doi.org/10.1007/s10689-004-6131-3DOI Listing
September 2005

Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis.

Virchows Arch 2002 Apr 25;440(4):362-6. Epub 2002 Jan 25.

Academic Department of Pathology and Imperial Cancer Research Fund Colorectal Cancer Unit, St. Mark's Hospital, Harrow, UK.

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http://dx.doi.org/10.1007/s00428-001-0570-0DOI Listing
April 2002