抄録
Hereditary breast and ovarian cancer (HBOC) patients with BRCA1/2 mutation are estimated to be approximately 1,560,000 in Japan. But general doctors and medical staff do not fully recognize the significance of medical intervention for HBOC in Japan in spite of the large number of potential patients. Thus, investigation into the actual conditions of HBOC has not been established.
So, we have tried to establish a registration system to clarify the clinical and genetic characteristics of HBOC in Japan.
Risk reducing salpingo-oophorectomy (RRSO) has been performed as a clinical examination in our hospital. Average age at the time of RRSO was 49 years. And many of them have a family history of ovarian cancer, with a frequency of 63.3%. Pathological examination revealed a p53 signature in one case out of 30 cases, but no occult cancers were observed at my institute.
Genetic test for BRCA1/2 could also be used worldwide for companion diagnosis for the PARP2 inhibitor. Appropriate recognition for HBOC by general medical staff and cooperation with other departments will be required.
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