Purpose: This study evaluated the outcome of treatment for FAP patients with distant metastatic colorectal cancer. Patients and methods: The subjects were 6 classic FAP patients with distant metastatic colorectal cancer, who underwent （procto-） colectomy as the first surgical intervention for FAP in our institution between September 2000 and March 2014. Patient background data, including types of treatment and their outcomes were retrospectively examined. Results: Ileal pouch anal anastomosis（ IPAA） was performed in one patient, colectomy with ileorectal anastomoses（IRA）was performed in 4 patients, and partial colectomy（Hartmann’s operation）was performed in one patient with perforated rectal cancer. Four patients underwent additional curable metastatectomy and two patients had unresctable liver metastasis. Each patient received oxaliplatin-based chemotherapy pre- or post-operatively. The overall 3-year survival rate was 66.7%. Conclusion: These results suggest that IPAA or IRA in combination with metastatectomy might contribute to prolongation of survival time for the patients with distant metastatic colorectal cancer in the era of modern chemotherapy.

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Hoshi General Hospital is one of the facilities that are doing BRCA genetic testing for a long time in Japan. BRCA genetic testing is 149 family accumulated so far. But year number is 0-10 testing. BRCA genetic testing of Japan is less than overseas. In this study we investigated the reaction of familial breast cancer patients for BRCA genetic testing. Economic factors were extracted from the resulting 69% of patients. 78% of them could not be BRCA genetic testing for economic factors.It is necessary to consider the appropriate way of future BRCA genetic testing and genetic counseling system, including medical and researchers,governments and patient support goups.

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[in Japanese]

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Genetic services of hereditary breast and ovarian cancer (HBOC) has already become very common among clinicians of breast cancer in United States for about 20 years after identification of BRCA 1/2 genes. In contrast, either genetic counseling or test of HBOC have not yet been covered by health insurance in Japan. Especially risk reduction surgeries are performed only in the limited institutes being permitted by the institutional review boards. I guess the lack of education causes the lack of awareness of HBOC among the medical doctors and staffs working in breast cancer fields and this lack of awareness is the main reason why spread of HBOC is so delayed in Japan compared with the other developing countries. Kochi prefecture, where our institute is situated, has small medical and human resources because of small population about 736,000 with rapid depopulation. In these situations we established the genetic service system for HBOC cooperating with the genetic counseling service in our institute and educating medical staffs through the existing socio-medical networks of breast cancer, namely Kochi Breast Cancer Study Group, non-profit organization ″Kochi-ken no nyuugan wo kangaeru kai″ and several cancer patient associations. We introduce the actual state of genetic service of HBOC in our institute and presenting issues in Kochi.

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Five to ten percent of all breast cancer cases are thought to be hereditary, and the BRCA1/2 gene mutation is known to be involved. Individuals with the BRCA1/2 gene mutation have a higher risk of developing hereditary breast and ovarian cancer （ HBOC） . Patients and family members with family histories of cancer in Europe and America receive genetic counseling and genetic testing for treatment, diagnosis, and the prevention of symptoms. It is difficult that genetic screening may be performed, and these cope all only in heredity specialty outpatient department, and it is expected that even a breast specialty clinic copes, and testing is not performed in all cases. In total 303 individuals who visited our outpatient clinic were diagnosed with or treated for breast cancer between January 2010 and January 2014. We interviewed these patients about their family histories, identified high-risk HBOC individuals, and gave genetic counseling to 114 individuals. In total 711 individuals who treated with breast-conserving surgery our patient clinic were diagnosed with or treated for breast cancer between April 1988 and April 2014. We diagnosed of 40 ipsilateral breast cancers. We diagnosed of 39 contralateral breast cancers between April 1988 and April 2014. A tissue diagnosis was provided before surgery for 298 breast cancer, and unilateral mastectomy was chosen for 23 HER2-positive breast cancer of Intrinsic subtype by 56.5% between January, 2010 and April, 2014. We are unable to readily determine why so many individuals are reluctant to visit our breast special clinic. We examine BRCA1/2 mutation in the gene and want to determine treatment in future. Ongoing genetic counseling is recommended.

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The objectives of this study was to evaluate the clinical characteristics of BRCA mutation carriers with carcinoma of the ovary / fallopian tube. Median age at genetic diagnosis was 52y.o. Dignosis of BRCA mutation was made before ovarian cancer surgery in two patients, including one patient who presented with stage Ⅲc ovarian cancer in periodic screening. In other eight patients, genetic test was performed after the ovarian cancer surgery, including four patients with family histories suggestive of hereditary breast and ovarian cancer. The most common histologic type was serous adenocarcinoma of the ovary / fallopian tube, although in this series two relatively rare cases with mucinous borderline tumor of the ovary with BRCA2 mutations was reported. Primary debulking surgery was performed in nine patietns and optimal resection was achieved in seven patients. Five patients recurred, and were given salvage surgery and / or chemotherapy and at present all the patients survived, suggesting a relatively good prognosis in BRCA mutation carriers with carcinoma of the ovarian / fallopian tube.

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