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Insertion of an SVA Element in MSH2 as a Novel Cause of Lynch Syndrome
  • +7
  • Ciyu Yang,
  • Yirong Li,
  • Magan Trottier,
  • Michael Farrell,
  • Vikas Rai,
  • Erin Salo-Mullen,
  • David Gallagher,
  • Zsofia K. Stadler,
  • Heleen van der Klift,
  • Liying Zhang
Ciyu Yang
Memorial Sloan Kettering Cancer Center
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Yirong Li
Memorial Sloan Kettering Cancer Center
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Magan Trottier
Memorial Sloan Kettering Cancer Center
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Michael Farrell
Mater Private Hospital
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Vikas Rai
Memorial Sloan Kettering Cancer Center
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Erin Salo-Mullen
Memorial Sloan Kettering Cancer Center
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David Gallagher
Mater Private Hospital
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Zsofia K. Stadler
Memorial Sloan Kettering Cancer Center
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Heleen van der Klift
Leiden University Medical Center
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Liying Zhang
UCLA
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Abstract

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. MSK-IMPACT next-generation sequencing testing and long-range PCR revealed an insertion in MSH2 exon 12 at the c.1972 position in an antisense orientation. The insertion was further characterized as an SVA element approximately 3 kb in length, belonging to the SVA_F1 family of retrotransposons.