Publications by authors named "Francois Le Marc'Hadour"
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.
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- * The new formulation, trastuzumab emtansine (T-DM1), links trastuzumab to a cytotoxic drug to enhance delivery to cancer cells and reduce drug resistance.
- * A case study revealed that a patient developed nodular regenerative hyperplasia after 12 months of T-DM1 treatment, leading to the cessation of the drug, though her cancer metastasis worsened; more research is needed on this side effect.