Collaborator: Providence Health
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A novel missense variant in CDH1 causes hereditary diffuse gastric and lobular breast cancer syndrome independently of splicing
Take home points: CDH1 missense variant p.G212V (c.635G>T) implicated in hereditary diffuse gastric and lobular breast cancer syndrome (DGLBC). Notably, pathogenicity arises from the missense alteration, distinct from splicing disruption. Families carrying p.G212V met CDH1 testing criteria, exhibiting DGC and LBC histories. RNA analysis excluded splicing anomalies. Structural analysis highlighted destabilization potential, reinforced by similar…
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Revisiting the role of CHEK2 mutations in hereditary breast-colorectal cancer probands
Germline mutations that predispose to both breast and colorectal cancer risk are currently not well defined.