[Molecular Diagnosis and Treatment of HBOC Syndrome]

Hereditary breast and ovarian cancer(HBOC)is an inherited cancer caused by mutations of the BRCA1 or BRCA2 genes. BRCA genetic testing is used for HBOC diagnosis and continues to progress such as the annotation of VUS. In HBOC clinical practice, surveillance methods have been established through collaboration between genetic medicine and cancer medicine, and treatment, including options based on genetic diagnosis, has advanced significantly. Furthermore, the analysis of BRCA1 and BRCA2 function has progressed, and a novel therapeutic method based on synthetic lethality, such as a PARP inhibitor use, has been developed. Furthermore, BRCA genetic testing is going to be used as a PGx test for the selection of sensitive cases. Meanwhile, familial breast cancer and ovarian cancer, in which cases of breast and ovarian cancer accumulate in the family, vary from some patients carrying a single mutated gene, such as BRCA1, to families that have multifactorial predisposing causes. Responsible genes of each group have been identified as high, moderate, and low susceptibility genes, and there are a number of cases where the responsible genes are unknown. Such genes need to be identified and a new diagnostic system needs to be established.