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

Genetic Predisposition to Disease Germ-Line Mutation Human Genetics Neoplasms Whole Exome Sequencing

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
14 Jul 2024
Historique:
received: 28 11 2023
accepted: 17 06 2024
medline: 15 7 2024
pubmed: 15 7 2024
entrez: 14 7 2024
Statut: aheadofprint

Résumé

BackgroundLynch syndrome (LS) is an inherited cancer predisposition syndrome caused by genetic variants affecting DNA mismatch repair (MMR) genes 830 carriers of pathogenic or likely pathogenic ( Cumulative incidence of colorectal and endometrial cancer (EC) by age 70 years was elevated in These results support offering incidentally identified carriers of any

Identifiants

pubmed: 39004446
pii: jmg-2023-109791
doi: 10.1136/jmg-2023-109791
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Eilidh Fummey (E)

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Pau Navarro (P)

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
The Roslin Institute, University of Edinburgh, Roslin, Midlothian, UK.

John-Paul Plazzer (JP)

Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

Ian M Frayling (IM)

The Centre for Familial Intestinal Cancer, St Mark's the National Bowel Hospital and Academic Institute, London, UK.
Institute of Cancer & Genetics, Cardiff University, Cardiff, UK.

Sara Knott (S)

Institute of Ecology and Evolution, University of Edinburgh, Edinburgh, UK.

Albert Tenesa (A)

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK albert.tenesa@ed.ac.uk.
The Roslin Institute, University of Edinburgh, Roslin, Midlothian, UK.

Classifications MeSH