Article
Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers.
Familial cancer - 31 Jan 2026
Buchanan Daniel D, Alvarez Rocio, Mahmood Khalid, Clendenning Mark, Georgeson Peter, Walker Romy, Como Julia, Preston Susan G, Joseland Sharelle, Mohammadsaeedi Kimia, Aguirre Francesca, Zhou Lisa, Hazelett Dennis J, Jenkins Mark A, Rosty Christophe, Winship Ingrid M, Macrae Finlay A, Dwarte Tanya M, Nixon Dawn, Hitchins Megan P, Joo Jihoon E
Abstract excerpt
The germline MLH1 c.-42 C > T (rs41285097) promoter variant has been identified in cases with MLH1-deficient colorectal or endometrial cancers but remains a variant of uncertain significance. Genetic testing identified two new MLH1 c.-42 C > T index cases from Australia and the USA. Clinicopathologic and molecular characterisation of tumour and non-neoplastic tissues was performed to investigate the potential...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.