Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient

• Auteurs principaux: Zi-Ye Zhao (Auteur), Yu-Liang Jiang (Auteur), Bai-Rong Li (Auteur), Fu Yang (Auteur), Jing Li (Auteur), Xiao-Wei Jin (Auteur), Shou-Bin Ning (Auteur), Shu-Han Sun (Auteur)
• Format: Livre
• Publié: BMC, 2017-11-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Case presentation We reported an isolated PJS p...