Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Qing WangJulie LeclercGaëlle BougeardSylviane OlschwangStéphanie VasseurKévin CassinariDenis BoidinCédrick LefolPierre NaïboThierry FrébourgMarie Pierre BuisineStéphanie Baert-Desurmontnull null

Published in: Journal of medical genetics (2020)

Our results provide further insight into the role of the PMS2 gene in LS. While PMS2 variants are mostly detected in families not fulfilling Amsterdam criteria, which supports their lower penetrance, they can nevertheless cause early-onset cancers, highlighting the variability of their penetrance.

Keyphrases

early onset
copy number
late onset
genome wide
dna methylation