Chloé Grand-Masson

Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients

A. Viari, Qing Wang, E. Ruano, 2020, European Journal of Human Genetics.

Somatic MMR Gene Mutations as a Cause for MSI‐H Sebaceous Neoplasms in Muir–Torre Syndrome‐Like Patients

J. Saurin, C. Audoynaud, Qing Wang, 2015, Human mutation.

PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene

E. Ruano, C. Lefol, Ahmed Bouras, 2023, Genes, chromosomes & cancer.

From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene

E. Ruano, C. Lefol, J. Kourda, 2023, Molecular genetics & genomic medicine.

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

E. Ruano, C. Lefol, Pierre Naibo, 2022, Familial Cancer.