Background Breast cancer in young women also recurs frequently, and the prognosis is poor in a substantial proportion of this particular patient population. Treatment planning requires consideration of issues such as fertility, early menopause, and hereditary predisposition. To that end, we investigated the characteristics of breast cancer in young women treated at our institution. Material and Methods: Early-onset breast cancer was defined as occurring in women under 35 years of age. Of 2,271 patients who underwent surgery for breast cancer during the period from January 2000 to October 2014, 51 young women （2.24%） were included in this study. The clinicopathological factors and 10-year disease-free and overall survival rates of these patients were compared to breast cancer patients aged 35 years or older. Result: Incidences of 4 or more metastatic lymph nodes, grade III cases, and triple negative cases were significantly more frequent in young patients than in older patients （p = 0.002, 0.025, and 0.0174, respectively）. The 10-year disease-free survival rate was 54.8% in young patients and 87.4% in older patients （p = 0.001）; the 10-year overall survival rates in these patients were 80.2% and 93.2%, respectively （p = 0.03）. Conclusions: The prognosis of breast cancer was poorer in patients under 35 years of age than in those aged 35 years or older. Improving the prognosis requires drug therapy planning with a better understanding of the details of the underlying pathological conditions, including the use of genetic analysis.

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In recent years, even in Japan, more people have been concerned with hereditary breast cancer, and those who have genetic counseling and want to have genetic tests, are increasing. Though some previous studies have shown which combination of examinations is effective for the early diagnosis of breast cancer for BRCA mutation carriers, the screening methods have not been established sufficiently in Japan. The patient in this report was tested and found to have the BRCA2 mutation after her identical twin sister was diagnosed with breast cancer. In our institute, BRCA mutation carriers have mammography and MRI once a year as some guidelines recommend, and also have ultrasonography every 6 months. We present the patient diagnosed with breast cancer through the surveillance for BRCA mutation carriers, showing previous data and our analysis.

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Genetic counseling for familial tumors has rapidly spread in Japan recently. However most of the institutions providing genetic counseling are tertiary hospitals in the region, such as university hospitals. We have established genetic counseling office in a municipal hospital and started surveillance for high-risk patients since April, 2014. 10 clients have been referred to our office for genetic counseling, and 7 clients had genetic tests. Of the 7 patients, 3 patients were diagnosed as breast cancer, and underwent genetic testing to determine the surgical procedure （3/7, 43%）. This percentage suggests that results of genetic testing influence decision making for treatment of breast cancer greatly. At the same time, we established “Outward for high-risk patients” and continue psychological support and surveillance for mutation carriers and their relatives. We have to make efforts to establish counseling system and networks, to make genetic counseling more accessible to patients with hereditary tumors, so that patients can receive appropriate medical care.

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Lynch syndrome（LS）is an autosomal-dominant inherited disorder mainly due to a predisposing germline mutation in the DNA mismatch repair （MMR） genes and is associated with increased risk for LS-associated cancers, particularly colorectal cancer and endometrial cancer（EC）. LS identification in EC is significant for prediction and prevention of subsequent other associated cancers, but suitable methods for it have not been established. Here, we explain about the LS screening strategy in EC and our study results. The screening procedures consisting of highly sensitive clinical criteria and additional molecular analyses would be a strategy that improves the LS identification efficiency and reduces its cost.

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Medullary thyroid carcinoma （MTC） is divided into two types; hereditary form and sporadic form. Approximately 30% of patients are hereditary, and 70% are sporadic. Hereditary MTC is a part of clinical manifestations of multiple endocrine neoplasia type 2 （MEN2）. The causative gemline for MEN2 is RET oncogene and this gene is located on chromosome 10q11.2. More than 98% of MEN2 patients have RET germline mutations. To discriminate between hereditary and sporadic forms, RET gemline testing is strongly recommended for all patients with MTC. In addition, clinical subtypes of MEN2 （MEN2A, MEN2B and Familial medullary thyroid carcinoma） are strongly correlated with the position of the mutated RET codon. After RET gene testing had been performed as research level in Japan, the testing was approved as advanced medical technology in 2008. From April 2016, this genetic diagnosis has been covered by national health insurance. Here we comment in the topics of RET genetic diagnosis under national health insurance system in Japan.

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