Article
Clinical exome sequencing identified POLB c.C1002A as a possible genetic cause in a family with hereditary cancer-predisposing syndrome.
Cancer genetics - 1 Jul 2020
Zhu Zhenxin, Wang Jieshi, Jiang Lisha, Lin Ling, Meng Peng, Zhao Jiangman, Cai Qingping
Abstract excerpt
This study recruited a Chinese family with hereditary cancer-predisposing syndrome. To investigate the causative mutations, disease-associated exome sequencing was conducted using peripheral blood of three members with malignant disease. As a result, three variants (PLD2 c. C1951T, RAB3GAP1 c.A701G and POLB c.C1002A) came out to be the potential candidate pathogenic mutations, which were not reported before....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.