In recent years, with increased awareness of issues related to the handling of personal information, ethical guidelines have been established for the protection of the privacy of participants in studies. However, there are no clear guidelines applicable to case studies. We surveyed how case studies are handled in domestic journals, and examined issues associated with case studies related to familial tumors. Considering the clinical characteristics of familial tumors, where not only the index patient, but also their family and family history, is the subject of the study, careful attention must be given to: 1) obtaining informed consent from participants in the study; 2) protection of privacy; and 3) assurance of the scientific value of the study.

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Publication of case reports in medical journals requires some ethical consideration, especially with regard to the risk of breaching privacy. In order to develop guidelines for case report submission to the journal of Japanese Society for Familial Tumors, rules and regulations for case report submission to some wellknown international medical journals were studied. Most international journals advice authors not to include identifying information in their manuscripts, and require patients’ written informed consent for publication of case reports, in view of the fact that complete anonymity cannot be guaranteed. Several journals require submission of patients’ written consent to the editors before publication. Some journals provide a consent form that includes some information about the circulation and worldwide website accessibility of the journals. However, some issues remain unclear, including the definition of identifying information, who should be contacted among many family members referenced in a manuscript, and whether or not masking part of the medical information to protect patients’ privacy can be scientifically justified. Further discussion is needed to standardize requirements and provide authors with proper guidance on these issues.

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This report seeks to discuss the treatment of case reports in Japan in terms of the Private Information Protection Law, government guidelines, and those of academic societies. The following three questions will be discussed in this report: （1） Should case reports be treated as academic research?（2） Can the content of case reports be kept anonymous? and （3） How, and from whom should consent be obtained? Regarding issue （1）, the Private Information Protection Law and the associated governmental guideline would not apply if case reports are to be considered academic research. However, it should be noted that there is no specific requlation even when the law suggests reseachers to refer to other applicable guidelines. If the society is to draft its own case report guidelines, similar guidelines from other academic societies should be examined to identify common issues among medical specialties, as well as issues specific to the Japan Society for Familial Tumors that must be dealt with uniquely. Extensive discussion is required, especially with regard to questions （2） and （3） so that new regulations can be appropriately drafted and implemented.

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Case reports are important components of familial tumor study, but there is little consensus on how to protect patient privacy in case reports. Anonymization by omitting or changing patient details has been used as a method of protecting patient privacy. However, ensuring complete anonymity is almost impossible and changing patient details could compromise the scientific value of the report. It is important to obtain informed consent for publication from patients.

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Individuals with a family history of pancreatic cancer have an increased risk of developing pancreatic cancer. In western countries, familial pancreatic cancer（FPC） was defined as pancreatic cancer patient having at least one pair of first-degree relatives with pancreatic cancer, comprising 5–10 ％ of pancreatic cancer patients overall. Some trends in correlative risk based on the number of effected family members, ethnicity and earlier onset have been shown in comparison to that in the sporadic cancer. Genes responsible for FPC have not yet been thoroughly elucidated and mutation of BRCA2 was detected only in a small fraction （8–19 ％）. Although the concept of FPC has not yet been accepted in Japan, nationwide registries of FPC were established in many western countries since the 1990s in order to promote early detection of pancreatic cancer by encouraging the screening the kindred of FPC patients.

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[in Japanese]

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