Cancer is a heritable disorder of somatic cells. Environment and heredity both affect the pathogenesis of human cancer, even cases of hereditary cancer. Carcinogenesis may be compared to an opened Japanese fan, because initiated cells grow into many directions and clinical tumors suggest the edge of a fan having many gene abnormalities. This paper discusses cancer prevention and the delay of carcinogenesis.
The Tohoku district is the northeast area of Honshu, the largest island in Japan, and the area has shown poor development historically. The area comprises 17% of Japanese geography, but the population is only 8% of the total, and most of the area is comprised of steep mountains zones.
So, we have built the system in which we have connected the outpatient clinic for hereditary cancer in Hoshi General Hospital in Koriyama and Fukushima Medical University Hospital in Fukushima which are nodal points of the Japanese Society of Familial Tumors, with physicians in charge in local hospitals using information technology, to improve the medical care provided for patients with familial or hereditary tumors. The Tohoku Familial Tumor Association was established in 1997 with the cooperation of about 50 medical institutions. The purposes of Tohoku Familial Tumor Association are education regarding the importance of the study of familial or hereditary cancer, promotion of a joint study and coordination of genetic testing. The annual meeting has been held in Sendai which is the central city of the Tohoku district and information concerning with familial or hereditary tumor is delivered real time using information technology. With coordination of genetic testing, we do judging of competence, provide advice about explanations of diseases and informed consent regarding genetic testing and counseling for familial or hereditary tumor and for genetic testing.
Human hereditary kidney cancers are classified into 6 diseases, such as von Hippel-Lindau（VHL）disease, Hereditary papillary renal cell carcinoma, Hereditary leiomyoma renal cell carcinoma Birt-Hogg-Dube syndrome, and Hereditary paraganglioma and renal cell carcinoma. Here we briefly describe the details of these 6 diseases. Mutation is usually not detected in sporadic RCC except VHL disease. In the case of VHL disease, family alliances have been organized by patients in the US, Japan or other countries. Several social activities are carried out by the VHL family world-wide. These activities are becoming more influential throughout society. We also describe the social activities carried out by the VHL Family Alliance in Japan and in other countries.
Based on my experiences in counseling outpatients, genetic counseling in a university hospital, and activities of a patient group with familial adenomatous polyposis, I examined the present situation and problems of providing support for patients with familial tumor from a nursing perspective.
A variety of supportive activities are required depending on the situation, and in addition to providing appropriate information, it is important to perceive the reaction a patient or family members show when they “face familial tumor for the first time.”During the process in which we help patients and families optimize the tests and treatments they receive and let them share information among themselves, we should try to ease their burden as much as possible, which will enable them to take advantage of medicine throughout their whole lives. It is also necessary to support their decision making while providing information at important stages of the patient,s life such as school, job, marriage, and childbearing. Since such a process is highly individual as well as complicated, a system that enables genetic counseling should be established, along with continuing daily interaction. From the perspective of nursing, we are responsible for comprehensively assessing situations surrounding the patients and families and playing a direct or coordinating role in providing support according to the situation.
We have continuously accumulated and investigated patients' records since 1922 and found that about 30% of patients with thyroid disease had at least one firstor second-degree relative with some form of thyroid disease. Currently, we have a specialist as the registrar and are focusing on familial thyroid diseases. In Japan, registrar for patients with familial tumor have not previously existed. However, the registrar's role is expanding, from the investigation and registration of family records, and discovery of probable or evident hereditary families, to follow-up of patients in these families. The registrar also responds to patient queries and anxieties that are not handled by the doctor. These consultations, which provide patients with appropriate genetic counseling, are needed by the registrar. Genetic information should be maintained with appropriate safeguards and this issue is now problematic. We think that the safeguard of genetic information can be well organized by co-operation between the doctor and registrar. In this paper, we emphasize the importance and necessity of the registrar and describe his work in our hospital.
Secondary prevention of families at high risk for developing cancer is more attractive than population screening because the yield of screening is higher, the compliance of families better and the potential gain in life-expectance of screening in hereditary cancer larger because of the early onset of hereditary cancer. Surveillance of high-risk groups should, therefore, have the highest priority. Because, it has been estimated that genetic factors play a role in the development of 10–15% of most cancers, secondary prevention of high-risk families on a large scale may ultimately reduce cancer-related-mortality by up to 10%. The first step to reach this goal is identification of the high-risk families by taking a detailed family history in all patients with cancer. A second important step is to establish regional and/or national hereditary cancer registries that promote follow-up of these families and assure the continuity of the lifelong surveillance program. These registries have also an important role in the evaluation of the recommended protocols. Data collected by the hereditary cancer registry are an inexhaustible source for
The identification of the BRCA1 and BRCA2 genes has helped move genetics from rare disorders of childhood to common diseases of adulthood. Clinical testing programs are currently thriving, but will need to identify more effective ways to bill for services and how to expand access via the internet or telephone counseling without sacrificing quality. Lastly, the impact of gene patenting will need continued monitoring, because it is crucial that researchers be allowed to continue developing new and better tests to benefit all patients at high risk.
The patient was a 51-year-old male. At the age of 35 years, he underwent surgery for cancer in the ascending colon at another hospital. In 2003, synchronous multiple cancers（3 cancers in the descending colon and 1 in the sigmoid colon）were detected in the remaining colon, and total resection of the remaining colon and ileorectal anastomosis were performed. His pedigree fulfilled the Amsterdam Criteria I and II; his father and younger brother had colorectal cancer and his grandmother had gastric cancer. Gene analysis demonstrated a missense mutation of exon 14 in hMLH1, which was a pathogenic mutation. In the future, strict surveillance should focus on possible cancer development in other organs. In addition, carrier diagnosis in this kindred is necessary. We hope that HNPCC gene analysis will make great progress in the near future and will be clinically utilized as an early diagnostic strategy.
In Shinshu University School of Medicine, Matsumoto, Japan, all fourth year medical students participate in role play practice of genetic counseling. A hypothetical case is presented to each group of 4 to 5 students, and students review the medical problems, possible worries and conflicts of the clients and family members, desirable ways for medical staff to approach the clients, and other details of the case. Then students draw up a scenario and play the drama before other students, teaching staff, and working genetic counselors. In response to an afterpractice questionnaire, most students indicated that they realized importance of communication between patients and medical staff and the difficulties in comprehensive disclosure of medical information to patients. Genetic counseling role-play is not merely a valuable tool for teaching clinical genetics but it seems a very effective strategy for educating the affective domain, which is essential for medical professionals.
We developed a systematized surveillance system of family history for every inpatient. Physicians obtain a family history from all inpatients. Investigators in the familial tumor counseling service review survey sheets of family history. Patients who meet the diagnostic criteria for familial tumors are registered in the database. They are then referred to our service and provided with familial tumor counseling. We carry out gene testing if necessary. Between November 2000 and January 2004, we obtained 2,448 pedigrees and recorded 59 cases. In these 59 cases, counseling was performed in 25 cases, and gene testing was performed in 10 cases. Mutations were detected in 5 cases. We are also managing a web page at the National Shikoku Cancer Center, and we have created a patient brochure that address familial tumors. We hope this new system will contribute to the development of services for patients with familial tumors.