RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families.
| Autor: | Fulk K; Ambry Genetics Corp, Aliso Viejo, California, USA kfulk@ambrygen.com., Turner M; Inova Primary Care, Falls Church, Virginia, USA., Eppolito A; Piedmont Healthcare Inc, Atlanta, Georgia, USA., Krukenberg R; Community Health Network Inc, Indianapolis, Indiana, USA. |
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| Jazyk: | angličtina |
| Zdroj: | BMJ case reports [BMJ Case Rep] 2022 Apr 29; Vol. 15 (4). Date of Electronic Publication: 2022 Apr 29. |
| DOI: | 10.1136/bcr-2022-249580 |
| Abstrakt: | Despite advances in genetic testing for Lynch syndrome, nearly one quarter of mismatch repair-deficient (MMRd) colorectal and endometrial cancers remain unexplained. When added to germline DNA testing, RNA sequencing can increase diagnostic yield, improve variant classification and reduce variants of uncertain significance. Here, we describe two cases where RNA sequencing uncovered likely pathogenic MSH2 variants in families with MMRd tumours that were initially unexplained following comprehensive genetic testing for Lynch syndrome. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.) |
| Databáze: | MEDLINE |
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