Insertion of an Alu-like element in MLH1 intron 7 as a novel cause of Lynch syndrome.
Yirong LiErin Salo-MullenAnna VargheseMagan TrottierZsofia K StadlerZarina YelskayaPublished in: Molecular genetics & genomic medicine (2020)
The insertion of a truncated AluSx like element into MLH1 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.