Terri McVeigh

Jul 19, 2024 | jmg.bmj.com | Terri McVeigh |Fiona Lalloo |Kevin Monahan |Andrew Latchford

Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

May 30, 2024 | jmg.bmj.com | Terri McVeigh |Fiona Lalloo |Kevin Monahan |Andrew Latchford

Delivery of Health CareDigestive System NeoplasmsDNA RepairGastroenterologyGenetic Carrier ScreeningMUTYH-associated polyposis (MAP) is an autosomal recessive condition caused by biallelic constitutional pathogenic variants in the MUTYH gene. MAP is associated with colonic polyposis (typically adenomas, but less commonly hyperplastic, serrated or mixed) and increased cancer (colorectal, duodenal and others) risk.

Mar 26, 2024 | jmg.bmj.com | Terri McVeigh |Kevin Monahan |Joseph Christopher |Nick EJ West

DiscussionThe term LLS refers to an intermediate state of testing, and not a distinct heritable syndrome per se, and has therefore never been clearly defined despite advances in molecular testing and evaluation. Thus, some authors have suggested that the term may cause confusion and is redundant and should not be used.35 37 38 The consensus in this meeting was that the term ‘u-dMMR’ more accurately reflected intermediate and/or uncertainty in testing for dMMR cancers.