This report is based on a paper read at a symposium of the 13th scientific meeting of Japanese Society for Familial Tumors. Hereditary colorectal tumors are an important medical issue in the study of colorectal cancer. We discussed the condition from the perspective of patients as well as that of medical care providers. Family studies of patients with hereditary colorectal cancer and a registry for these patients are indispensable tools for improving medical care and promoting effective scientific investigations. The current registry systems for hereditary colorectal cancer in Japan are inadequate to supply a base for scientific studies of hereditary colorectal tumors compared with that of European countries. It is an urgent issue for an effective registry system or data base for hereditary colorectal tumors to be established in Japan.
Mutation analysis of BRCA1 and BRCA2 was conducted in 113 Japanese familial breast cancer （FBC） patients. Fifteen deleterious mutations （13.3%） were identified in BRCA1 and 21 deleterious mutations（18.6%） were identified in BRCA2. These findings demonstrate that the cumulative frequency of BRCA1 and BRCA2 mutations in Japanese breast cancer families（31.9%）is within the range observed in Caucasian breast cancer families. The mean age at the time of diagnosis of BRCA1-associated FBCs and that of BRCA2-associated FBCs（44 years for both）were significantly younger than that of the control group（54 years）and the incidence of bilateral tumors was significantly higher in the BRCA1-associated FBCs （32%）and BRCA2-associated FBCs（29%）than in the control group（6%）. BRCA1-associated FBCs showed a significant increase in histologic grade 3 tumors（p ＜ 0.01） and estrogen receptor negative tumors（p ＜ 0.01）. However, such characteristics were not observed in the BRCA2-associated FBCs. BRCA1-associated FBCs, but not BRCA2-associated FBCs, seem to have biologically aggressive phenotypes.
The fundamental law on cancer measures has been enacted, and the cancer diagnosis and treatment have become more important. The location of familial tumor in the diagnosis and treatment of cancer and genetic counseling have become important. Solid cancers such as those of the digestive organs, respiratory organ, breast and endocrine organs are mainly treated in our department, and familial tumors are often encountered. Investigating the family history might be extremely important, and familial tumor might be suspected after listening to the family history of the patient with cancer. The presence of two or more family members with same cancer type and two or more cancer in the same lineage may be indicatiors of familial tumor. In addition, familial tumor may be assumed from features such as early onset of cancer, frequent occurrence, and multiple cancers. Moreover, genetic counseling was also important, and 75 cases received genetic counseling during 2006 in our department. An appropriate policy of treatment will be established by recognizing and diagnosing familial tumors, because there are specific features in the appropriate treatment of familial tumor. In FAP and MEN, treatment has already been established by genetic testing.
The importance of the subjective indicator of Quality of Life（QOL）is pointed out as an outcome of treatment and care for cancer and other choronic disseases. The concept of QOL is used these days. QOL is also considered impotant in the study of familial tumors. QOL research is a field that deals with issues of personal subjectivity: the subjects’ manner of perceiving matters may change depending on the time or event. Thus, it is important to take such changes into account in desighn of QOL studies. The concept of a “response shift” is sometimes used to explain it. When conducting QOL research, this is one of the important concepts. At present, it may be considered that we have not necessarily obtained any clear conclusions with regard to how to adopt this concept as a method or how to interpret it. Further discussion on the subject is desired. In this paper, the basic contents such as response shift, including definitions, theoretical model, and measurement methods are provided with typical books and papers when describing the current status of research. The then test, one of the methods used to detect response shift, is presented in detail. In addition, previous research including a typical paper and a meta-analysis are shown. Finally, future tasks on response shift are described.