Ian M. Frayling
Heath Park
Cardiff, WLS, United Kingdom
Cardiff, WLS, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 51 publications
UK participation in the UK National External Quality Assessment Scheme for mismatch repair immunohistochemistry: insights from the last decade.
Journal: Journal of clinical pathology
Published: February 18, 2026
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics.
Journal: Clinical genetics
Published: December 18, 2025
The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathology.
Journal: Histopathology
Published: December 18, 2025
Defining an Ageing-Related Pathology, Disease or Syndrome: International Consensus Statement.
Journal: medRxiv : the preprint server for health sciences
Published: September 16, 2024
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland.
Journal: Familial cancer
Published: August 01, 2024
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Journal: medRxiv : the preprint server for health sciences
Published: May 15, 2024
The molecular cartography of malignant and benign sebaceous tumours.
Journal: Nature communications
Published: May 05, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Journal: American journal of human genetics
Published: April 14, 2024
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: Journal of medical genetics
Published: January 23, 2024
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank.
Journal: Journal of medical genetics
Published: November 28, 2023
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.
Journal: European journal of human genetics : EJHG
Published: August 08, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2023
Last Updated: 09/26/2026