Variable expressivity and novel pten gene mutations in cowden syndrome

We reported an isolated case and 1 family with several individuals affected by CS. The isolated case showed typical features including fibrocystic breast disease, benign thyroid nodules, and multiple papillomatous lesions in the face and oral cavity and was caused by a novel nonsense mutation (c.940 G>T) in the PTEN gene. In the family, the proband showed erythema nodosum, duodenal ulcer, intestinal polyps, cervical lipoma, renal cysts, and glaucoma, whereas her family revealed multiple members with intestinal polyps and a sister with breast cancer diagnosed at early age.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Source Type: research

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This study confirms the involvement of PTEN in CS and reinforces the variable clinical expressivity of disease.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
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