Assessment and counseling for women with a family history of breast cancer. A guide for clinicians.

Assessment and counseling for women with a family history of breast cancer. A guide for clinicians.
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为有乳腺癌家族史的女性提供评估和咨询。

DOI:
10.1001/jama.1995.03520310075033
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发表时间:
1995
期刊:
JAMA
影响因子:
--
通讯作者:
Barbara L. Weber
Barbara L. Weber
中科院分区:
--
文献类型:
--
作者:
K. Hoskins;J. Stopfer;K. Calzone;S. Merajver;T. Rebbeck;J. Garber;Barbara L. Weber

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所有风险类别中的更多妇女正在寻求有关其个人乳腺癌风险的信息,需要其初级保健临床医生能够评估乳腺癌的家族风险因素,提供个性化的风险信息,并提供监测建议。据估计,有乳腺癌家族史的妇女人数约为5%至20%,这取决于调查的人口。这些妇女中的许多人不会有家族史,表明存在高度渗透性乳腺癌易感基因。然而,这些妇女中的一小部分将来自乳腺癌和其他癌症发病率高的家庭,这些癌症通常与遗传突变有关。风险预测模型的发展和完善提供了一个流行病学的基础,咨询妇女的家族史,似乎没有相关的显性易感基因。相反,最近分离出的BRCA1,BRCA2的定位,以及对额外乳腺癌易感基因存在的认识,为一些高危妇女提供了分子基础。我们提出了一个初级保健临床医生的指南,可能有助于将家庭定义为中度或高度风险,在确定个人风险的妇女与乳腺癌家族史的基础上,这种区别,并为咨询妇女在设置必要的数据,以设计监测和预防策略是缺乏。我们包括标准选择妇女谁可能是乳腺癌易感基因的遗传突变检测的候选人。
More women in all risk categories are seeking information regarding their individual breast cancer risk, and there is a need for their primary care clinicians to be able to assess familial risk factors for breast cancer, provide individualized risk information, and offer surveillance recommendations. Estimates of the number of women with a family history of breast cancer range from approximately 5% to 20%, depending on the population surveyed. Many of these women will not have a family history that suggests the presence of a highly penetrant breast cancer susceptibility gene. However, a small subset of such women will come from families with a striking incidence of breast and other cancers often associated with inherited mutations. The development and refinement of risk prediction models provide an epidemiologic basis for counseling women with a family history that does not appear related to a dominant susceptibility gene. contrast, the recent isolation of BRCA1, the localization of BRCA2, and the acknowledgement that additional breast cancer susceptibility genes must exist provide a molecular basis for counseling some high-risk women. We present a guide for primary care clinicians that may be helpful in defining families as moderate or high risk, in determining individual risk in women with a family history of breast cancer based on this distinction, and for counseling women in a setting where the data necessary to design surveillance and prevention strategies are lacking. We include criteria for selecting women who may be candidates for detection of inherited mutations in breast cancer susceptibility genes.
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