Ian M Frayling

Ian M Frayling

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Ian M Frayling

Ian M Frayling

Publications by authors named "Ian M Frayling"

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32Publications

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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 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
August 2019

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

Genet Med 2019 Jul 24. 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
July 2019

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 Oct 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

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

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

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