Miki Yoshio
Dept. of Molecular Genetics, Medical Research Institute, Tokyo Medical and Dental University.
Gan To Kagaku Ryoho. 2017 Feb;44(2):102-106.
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.
遗传性乳腺癌和卵巢癌（HBOC）是一种由BRCA1或BRCA2基因的突变引起的遗传性癌症。BRCA基因检测用于HBOC的诊断，并且在诸如VUS注释等方面不断取得进展。在HBOC的临床实践中，通过遗传医学和癌症医学之间的合作建立了监测方法，并且包括基于基因诊断的治疗方案在内的治疗方法也取得了显著进展。此外，对BRCA1和BRCA2功能的分析也有进展，并且已经开发出基于合成致死性的新型治疗方法，例如使用PARP抑制剂。此外，BRCA基因检测将用作选择敏感病例的药物基因组学检测。同时，家族性乳腺癌和卵巢癌是指乳腺癌和卵巢癌病例在家族中聚集的情况，从一些携带单个突变基因（如BRCA1）的患者到具有多因素易患原因的家族不等。每组的致病基因已被确定为高、中、低易感性基因，并且有许多病例的致病基因尚不清楚。需要鉴定此类基因并建立新的诊断系统。
