The present study investigated experiences during life events, specifically school life, employment, marriage, and childbirth and child rearing, in 6 patients with familial adenomatous polyposis (FAP). Various influences of FAP on life events were narrated as follows: effects of beginning therapy on student lifestyle; effects on career selection, job hunting, career advancement and departmental transfer; and effects on spousal relationships. No direct effects were experienced regarding childbirth and child rearing; however, concern regarding genetic inheritance increased as children aged. Life events were affected by acceptance of the disease as well as the progress of family members diagnosed with FAP and personal physical condition. The present findings demonstrate the need for medical professionals to actively consider these experiences and investigate solutions for related issues.
BRCA1 and BRCA2 are genes associated with Hereditary Breast and Ovarian Cancer （HBOC）, and women with a mutation of them have life-time risks of 50~80% of breast cancer and 10~40% of ovarian cancer. We examined 7 patients who developed ovarian cancer or peritoneal cancer following the diagnosis of breast cancer and considered the surveillance for case of suspected HBOC. The time between the diagnoses of breast cancer and ovarian, peritoneal or tubal cancer was 4 to 14 years. 5 patients were diagnosed with stage Ⅲc ovarian cancer and 2 with stage Ⅳ and all cases were advanced at the time of diagnosis. While ovarian or peritoneal cancer was detected in 2 patients by follow-up CT images without subjective symptoms , 5 patients had abdominal symptoms at diagnosis. It appeared that the early detection of ovarian and peritoneal cancer was difficult for cases of suspected HBOC with imaging examination such as CT-scan only. Since the time between the diagnosis of breast cancer and the development of ovarian and peritoneal cancer was long, it is supposed to be useful to re-obtain detailed family history in order to recognize high-risk patients and family members.
Hereditary breast and ovarian cancer (HBOC) have cumulative cancer risks of 45% to 65% for breast cancer and 11% to 39% for ovarian cancer by the age of 70 years. Management of these cancers is required in BRCA1/2 mutation carriers. Regular medical surveillance has been performed for nearly all patients with HBOC in Japan. On the other hand, prophylactic surgery for risk reduction is a widely accepted interventional procedure in the United States and Europe. Risk reducing salpingo-oophorectomy (RRSO) can decrease the incidence of breast cancers, as well as ovarian and tubal cancers. RRSO also effectively reduces total mortality during 5 to 6 years of observation. Therefore, we believe that RRSO is an effective option for BRCA1/2 mutation carriers, and an infrastructure supporting the performance of RRSO should be created in medical institutes in which genetic medicine is performed. In our institute, a working group committee was established in January 2010 after we had experienced a case of advanced ovarian cancer with intra-abdominal dissemination in spite of doing medical surveillance. RRSO was approved by our Institutional Review Board in February 2011 after approval by several related committees. At the time of the last academic meeting (June 2012), 5 BRCA1/2 mutation carriers (mean age, 45.6 years) had been enrolled, all of whom had a history of breast cancer. Four of the 5 patients have a family history of ovarian cancer or intractable cancer such as pancreatic cancer, and they have experience caring for their relatives with difficultto- cure cancers. Therefore, preventing cancer-related death is an urgent concern for them. Their postoperative condition is generally satisfactory. We are planning to submit an application for advanced medical care to the Ministry of Health, Labour and Welfare.
The investigation about hereditary breast and ovarian cancer（HBOC）in Japan already lags far behind in the Western country or Asia. However, by verifying the data in detail, starting behind time can realize it as an advantage conversely from the viewpoint of efficiency. And it is a fact that problems that should be solved are also visible to pinpoint. In the Western country, MRI screening is already recommended to the high-risk women. When it has recognized that verification of the usefulness of the MRI screening for BRCA1 and BRCA2 career patients（high-risk women）is indispensable also in Japan, it is necessary to examine the possibility of adding new diagnostic imaging technology other than MRI. Furthermore, the education of MRI-guided biopsy and the interpretation method of breast MRI are also indispensable.