Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.

ABSTRACT:

Background

Lynch syndrome is one of the most common cancer predisposition syndromes. It is caused by inherited changes in the mismatch repair pathway. With current diagnostic approaches, a causative genetic variant can be found in less than 50% of cases. A correct diagnosis is important for ensuring that an appropriate surveillance program is used and that additional high-risk family members are identified.

Methods

We used clinical genome sequencing on DNA from blood and subsequent transcriptome sequencing for confirmation. Data were analyzed using the megSAP pipeline and classified according to basic criteria in diagnostic laboratories. Segregation analyses in family members were conducted via breakpoint PCR.

Results

We present a family with the clinical diagnosis of

SUBMITTER: Witt D 

PROVIDER: S-EPMC10265068 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature