Identification of a novel large EPCAM-MSH2 duplication, concurrently with LOHs in chromosome 20 and X, in a family with Lynch syndrome.

Francesca PiriniGianluca TedaldiRita DanesiIlaria CanginiMaria Maddalena TumedeiAnna FerrariSilvia VitaliGiulia De MaioCarolina TerragnaVincenza SolliMichela TebaldiMaurizio PuccettiValentina ZampigaMila RavegnaniPaola UliviFabio FalciniGiovanni MartinelliDaniele Calistri

Published in: International journal of colorectal disease (2019)

We found a novel large EPCAM-MSH2 duplication associated with LS and the presence of LOHs in regions containing numerous tumor suppressors, raising the hypothesis that these alterations could contribute to cancer susceptibility. Our results underline the importance to deepen the knowledge of molecular mechanisms in order to determine the role in cancer predisposition of novel genetic alterations.

Keyphrases

papillary thyroid
squamous cell
circulating tumor cells
healthcare
copy number
lymph node metastasis
gene expression
squamous cell carcinoma
childhood cancer
young adults