Insertion of an Alu ‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome

ConclusionsThe insertion of a truncated AluSx like element intoMLH1 intron 7 results in aberrant splicing and transcription, thereby causing Lynch syndrome. This study confirms that retrotransposon insertions may be an important mechanism for cancer predisposition.

Source: Molecular Genetics & Genomic Medicine - October 15, 2020 Category: Genetics & Stem Cells Authors: Yirong Li, Erin Salo ‐Mullen, Anna Varghese, Magan Trottier, Zsofia K. Stadler, Liying Zhang Tags: ORIGINAL ARTICLE Source Type: research