Frequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study.

ABSTRACT:

Introduction/aims

Myotonic dystrophies (DMs) are autosomal dominant diseases in which expression of a mutant expanded repeat mRNA leads to abnormal splicing of downstream effector genes thought to be responsible for their multisystem involvement. Cancer risk and cancer-related deaths are increased in DM patients relative to the general population. We aimed at determining the frequency and type of cancers in both DM1 and DM2 vs a non-DM muscular dystrophy cohort.

Methods

A retrospective, cross-sectional study was carried out on patients with genetically confirmed DM1, DM2, facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD) at our institutions from 2000 to 2020.

Results

One hundred eighty-five DM1, 67 DM2, 187 FSHD, and 109 OPMD

SUBMITTER: D'Ambrosio ES 

PROVIDER: S-EPMC11521420 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature