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Article

A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.

Familial cancer - 1 Jul 2023

Bouras Ahmed, Naibo Pierre, Legrand Clémentine, Marc'hadour François Le, Ruano Eric, Grand-Masson Chloé, Lefol Cedrick, Wang Qing

Abstract excerpt

The PMS2 gene is one of the DNA mismatch repair genes (MMR) implicated in Lynch syndrome (LS). A subset of PMS2 pathogenic variants (PVs) are splice variants mostly affecting canonical GT/AG splicing sequences. However, the majority of the intronic variants outside canonical splice sites remained as variants of unknown significance, even though some of them would alter the splicing process. In this report, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36445599
DOI: 10.1007/s10689-022-00323-y

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A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.PMID 36445599Read ↗

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