Collaboration of breast cancer clinic and genetic counseling division for BRCA1 and BRCA2 mutation family in Japan.
Collaboration of breast cancer clinic and genetic counseling division for BRCA1 and BRCA2 mutation family in Japan.
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DOI：
10.1007/bf02967998
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发表时间：
2004-01-01
期刊：
影响因子：
--
通讯作者：
Ohuchi, Noriaki
中科院分区：
文献类型：
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作者：
Takeda, Motohiro;Ishida, Takanori;Ohuchi, Noriaki
背景技术背景：BRCA1和BRCA2突变导致高达80%的乳腺癌发病率虽然预防性治疗仍然存在争议，但已经提出并尝试了几种预防性治疗方法用于BRCA1和BRCA2突变携带者。预防性手术、化学预防和精确筛查已被提议作为预防性治疗。所有BRCA1和BRCA2突变携带者都需要了解他们的疾病以及用于预防疾病发作的对策。咨询在这方面对遗传病患者起着重要作用。因此，乳腺癌诊所和遗传咨询服务之间的合作是临床实践中最重要的问题。我们的团队由三所国立大学和一所综合医院组成。在这篇文章中，我们描述了我们的试验，以建立一个临床系统，对遗传性乳腺癌的中期报告，为日本厚生劳动省。患者和方法：20个家族性乳腺癌患者在这项研究中注册。对BRCA1和BRCA2基因进行全序列分析。如果检测到病理性突变，他们的第一学位的家庭被介绍给咨询师在每个研究所的候选人访问咨询divisions.Results和讨论：4例BRCA 1或BRCA 2的有害突变中检测到20例。他们的一级亲属现在正在考虑来访咨询部门。本研究中描述的临床系统应在日本发挥保护BRCA 1或BRCA 2突变携带者的作用。
BACKGROUND: BRCA1 and BRCA2 mutations cause high breast cancer incidence rates as high as 80% Although prophylactic therapy is still controversial, several prophylactic therapies have been proposed and tried for BRCA1 and BRCA2 mutation carriers. Prophylactic surgery, chemo-prevention and precise screening have been proposed as prophylactic therapy. All BRCA1 and BRCA2 mutation carriers need knowledge about their disease and the countermeasures that are used to protect against onset of disease. Counseling plays an important role in this regard for people with genetic diseases. Therefore, collaboration between breast cancer clinics and genetic counseling services is the most important issue in clinical practice. Our group consists of three national universities and a general hospital. In this article we describe our trial to construct a clinical system against hereditary breast cancer as an interim report for the Japanese Ministry of Health, Labour and Welfare.PATIENTS AND METHODS: Twenty familial breast cancer patients were registered in this study. The whole sequence of BRCA1 and BRCA2 were analyzed. If pathological mutations were detected, their first degree families were introduced to the counseling division at each institute when candidates visited counseling divisions.RESULTS AND DISCUSSION: Four cases of a deleterious mutation in BRCA1 or BRCA2 were detected among 20 cases. Their first degree relatives are now under consideration for visiting counseling divisions. The clinical system described in this study should play a role to protect BRCA1 or BRCA2 mutation carriers in Japan.