With increasing in number of cancer patients , the family with cancer patients also tends to increase. However, there are many families actually have a needless worry about cancer family or not. By providing correct information, the person suffering from familial tumors can be early diagnosed and treated. We tried to conduct a survey about familial tumors against obstetrician and gynecologists in Iwate Prefecture. Obstetricians, to some extent, understand about familial tumors, on the other hand, it was found that they are anxious about specifically describing for familial tumors. They said,“We have no confidence in the knowledge of Clinical Genetics”,“It is difficult to mention about the family of cancer patients in time”, “We can diagnose and treat for cancer patients without the knowledge of Clinical Genetics.”By adding to medical care of familial tumors, it is possible to eliminate the excessive worry of the family, and to pick up the person with high genetic risk. Enlightenment of knowledge about familial tumors is the most important issue.
We examined the current status of clinical practice and awareness of hereditary, familial breast cancer in Japan. We conducted a questionnaire survey and received answers from 27 centers and 60 breast surgeons. Fifty two percent of centers have ever experienced the patients with suspected familial, hereditary breast cancer, but only 11% have performed the genetic test. One reason why genetic tests are rare is that there is no genetic counseling service in the center （82%）. Another reason for not being tested is that there is no consensus how to deal with hereditary breast cancer （78%）. If the genetic test turns out hereditary breast cancer, 89% centers introduce the families to genetic counseling. However, 97% conduct screening alone for women who are at a high risk for breast cancer. There is no surgeon to do either chemoprevention or prophylactic surgery for them. For the patients with hereditary breast cancer, 83 % perform breast conserving surgery as therapeutic operation, whereas only 5% think they will undergo contralateral prophylactic mastectomy. In current clinical practice, Japanese surgeon has not taken genetic testing and risk reduction surgery for hereditary, familial breast cancer. Japanese society should face to this issue and try to build consensus how to treat and the appropriate health care system.
The purpose of this study was to clarify the determinants whether ovarian cancer patients choose genetic testing or risk-reducing surgery and their potential needs relating to them. Semi-structured interviews were done for five ovarian cancer patients. They mentioned that age, hope for pregnancy, marital status, cost and easiness of testing and availability of the prophylactic methods such as vaccines are important in decision-making for genetic testing. In regard to applying genetic testing to their daughters or granddaughters, both positive and negative opinions were collected. Some subjects expressed their hope that genetic testing will be covered by the system of National Health Insurance. In risk-reducing surgery, age, hope for pregnancy and menopausal state were pointed out as important determinants. The results of this study suggest that ovarian cancer patients need supports individualized according to their variables such as age or marital status, and that detailed information also needs to be provided, according to their values and needs. It is also suggested that a system in which genetic testing and risk-reducing surgery are available for all patients who need them is of urgent necessity.
Patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer: HNPCC), Cowden syndrome (CS) and Peutz-Jeghers syndrome (PJS), which are all hereditary diseases, have a higher risk for endometrial cancer than the general population. Elucidation of the oncogenic mechanism of hereditary endometrial cancer is also important for understanding the oncogenesis and characteristics of sporadic endometrial cancer. The risk of endometrial cancer throughout life is high in female patients with Lynch syndrome and occurs in 40% to 60% of cases. The Amsterdam II Criteria (AC II) are used for clinical diagnosis of Lynch syndrome. However, cases of Lynch syndrome-related endometrial cancer that do not meet these criteria (cryptic Lynch syndrome) have been described. Therefore, patients with a suspected hereditary predisposition for endometrial cancer, including juvenile-onset and double cancer, should undergo genetic tests, in addition to an evaluation of family history.