| Theme |
Lynch Syndrome and Hereditary Polyposis Syndromes |
| Title |
Screening of Hereditary Cancer Syndromes Using Germline Multigene Panel |
| Author |
Masahiro Gotoh |
Department of Clinical Genomics, National Cancer Center Research Institute, National Cancer Center Hospital |
| Author |
Teruhiko Yoshida |
Department of Clinical Genomics, National Cancer Center Research Institute, National Cancer Center Hospital / Genetic Medicine and Services, National Cancer Center Hospital |
| [ Summary ] |
In order to screen multiple types of hereditary cancer syndromes, a germline multigene test, named NCC oncopanel_FC (for Familial Cancer), has been designed in our laboratory. Based on several clinical guidelines such as the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Network (NCCN), 147 causative genes were selected for this test. After analyzing the sequencing data using the csDAI system, which was developed in collaboration with a biotechnology company, the clinical significance of rare variants was rated by an expert panel using the ACMG/Association for Molecular Pathology (AMP) 2015 classification. The research results were reported to physicians in genetic counseling outpatient clinics and registered in a public variant database (Medical Genomics Japan Variant Database (MGeND)) that is supported by the Japan Agency for Medical Research and Development (AMED). It is important to accumulate and share the Japanese variant data along with accompanying clinical information to clarify genotype‒phenotype relationships in hereditary cancer syndromes not only for diagnostic purposes, but also to investigate hereditary cancer syndromes. |