Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687  + 1G  & gt;  A germline mutation and review of the literature

This study highlights that CLP represents an important phenotypic feature ofCDH1 germline mutation carriers and emphasizes the inclusion of CLP in the HDGC testing criteria. The underlying causes for the appearance of variable phenotypes inCDH1 mutation carriers could include genetic variation, epigenetic changes and environmental factors and should be investigated in future studies.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research