A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center
A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center
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DOI：
10.1034/j.1399-0004.2000.580408.x
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发表时间：
2000-10-01
影响因子：
3.5
通讯作者：
Hunter, AGW
中科院分区：
文献类型：
--
作者：
Gilpin, CA;Carson, N;Hunter, AGW
医学界和普通人群已经意识到，基因检测可用于寻找BRCA 1和BRCA 2突变。然而，谁应该被转介遗传咨询和可能的后续测试的标准尚未确定，许多遗传学中心已不堪重负的服务需求。我们着手开发一种家族史评估工具（FHAT），可供医生选择个体进行遗传咨询。首先，我们选择了那些一生中患乳腺癌或卵巢癌的风险大约增加一倍的人。然后，FHAT被应用于184个不相关的家庭，其中一个索引患者患有乳腺癌或卵巢癌，并接受了BRCA 1/BRCA 2检测。收集数据，以比较将被转介进行遗传咨询的个体数量和使用FHAT、Claus表格和BRCAPRO系统从咨询中筛选出的突变阳性个体数量。在这个人群中，FHAT有效地减少了转诊的数量和后来发现突变阳性的妇女失踪的可能性。
The medical community and general population have become aware that genetic testing is available to look for BRCA1 and BRCA2 mutations. However, criteria for who should be referred for genetic counseling and possible subsequent testing have yet to be determined, and many genetics centers have been overwhelmed by the demand for service. We set out to develop a family history assessment tool (FHAT) that could be used by physicians to select individuals for genetic counseling. Arbitrarily, we chose individuals who would have an approximate doubling of their lifetime risk for breast or ovarian cancer. The FHAT was then applied to 184 unrelated families, with an index patient who had breast or ovarian cancer and who had accepted the offer of BRCA1/BRCA2 testing. Data were compiled to compare the number of individuals who would have been referred for genetic counseling and the number of mutation-positive individuals who would have been screened out from counseling using FHAT, the tables from Claus, and the BRCAPRO system. In this population, FHAT was effective in minimizing both the number of referrals and the likelihood of missing women who were later found to be mutation-positive.