Clinical exome sequencing identified POLB c.C1002A as a possible genetic cause in a family with hereditary cancer-predisposing syndrome

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. Sanger sequencing was used to validate the candidate variant in seven healthy members of this family.

Source: Cancer Genetics and Cytogenetics - June 25, 2020 Category: Genetics & Stem Cells Authors: Zhenxin Zhu, Jieshi Wang, Lisha Jiang, Ling Lin, Peng Meng, Jiangman Zhao, Qingping Cai Tags: Case report Source Type: research