Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review
Although RTs insertions do not seem to be a common cause of Lynch syndrome, the number might be underestimated because of the difficulties in detecting these variants with well-established methods like Sanger sequencing and NGS target sequencing.
Authors
- Jostein Johansen
- Olaug K. Rødningen
- Katinka Madtzog Korseth
- Wenche Sjursen (ORCID: https://orcid.org/0000-0003-3880-6440)
- Ashish Singh (ORCID: https://orcid.org/0000-0002-3191-7677)
- Sofie Geck Sevatdal
- Maren Fridtjofsen Olsen
- Eva Kathrine Svaasand
- Kristine Misund (ORCID: https://orcid.org/0000-0002-8742-7028)
- Bodil Gilde
- Siv Anita Hegre (ORCID: https://orcid.org/0000-0003-1122-4045)
- Anuradha Ravi (ORCID: https://orcid.org/0000-0001-5668-0090)
Institutions
- Oslo University Hospital (NO)
- Norwegian University of Science and Technology (NO)
- St Olav's University Hospital (NO)
Publication Details
- Journal
- Hereditary Cancer in Clinical Practice
- Published
- 2025-10-14
- DOI
- https://doi.org/10.1186/s13053-025-00324-9
- Citations
- 1
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.47