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

Zi-Ye Zhao,Yu-Liang Jiang,Bai-Rong Li,Fu Yang,Jing Li,Xiao-Wei Jin,Shou-Bin Ning,Shu-Han Sun

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

2017

Zi-Ye Zhao
Yu-Liang Jiang
Bai-Rong Li
Fu Yang
Jing Li
Xiao-Wei Jin
Shou-Bin Ning
Shu-Han Sun

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.

Keywords:

Peutz–Jeghers syndrome
Genetics
Cancer research
Cancer
Frameshift mutation
STK11
Sanger sequencing
Germline mutation
Biology
Tumor suppressor gene
Gene
Proband
Mutation

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