Article

Insertion of an SVA Element in MSH2 as a Novel Cause of Lynch Syndrome

2020-11-24

Abstract excerpt

Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome (LS). Insertions of retrotransposons in MMR genes have been reported as a rare cause of LS. Here, we present a novel SINE-VNTR-Alu (SVA) insertion in exon 12 of MSH2 in an individual with early-onset colorectal cancer and strong LS family history. RT-PCR analysis indicated a larger aberrant MSH2 transcript in one of the family members....

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Literature Corpus work: 89fb4b32-4860-5a0f-939e-70624efa180f
DOI: 10.22541/au.160619405.59308303/v1

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