Hughes Kevin S, Roche Constance, Campbell Curtis T, Siegel Nancy, Salisbury Lisa, Chekos Amy, Katz Maya S, Edell Erica
Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Breast J. 2003 Jan-Feb;9(1):19-25. doi: 10.1046/j.1524-4741.2003.09105.x.
Women at high risk of hereditary breast and/or ovarian cancer require specific management strategies for cancer prevention and early detection. The goal of this study was to determine the prevalence of familial breast and ovarian cancer among patients in a primary care practice. Questionnaires were mailed to the 608 women less than 81 years of age in a single primary care practice. Additional mailings and phone calls were used for nonresponders. Data were analyzed by bloodline, the degree of relative, age of diagnosis and cancer type. Women were grouped into three categories of breast/ovarian family history: "no family history,""insignificant family history," and "significant potentially high-risk family history" (women with two or more relatives in a single bloodline with breast and/or ovarian cancer, a single individual with bilateral breast cancer or breast and ovarian cancer, or breast and/or ovarian cancer at less than 40 years of age). A pedigree analysis of women categorized as "significant potentially high-risk family history" further classified these women as to the likelihood of being at risk for hereditary cancer. Data were obtained from 567 women (93%); 27 patients with a personal diagnosis of breast and/or ovarian cancer were excluded. Of the 540 remaining respondents, 351 (65%) had no family history of cancer, 138 (25.6%) had an insignificant family history, and 51 (9.4%) had a significant family history. Based on pedigree analysis of these 51 patients, 19 were unlikely to be at high risk for hereditary cancer, and 32 (6%) were likely to be at significant risk and warrant intensive evaluation. The large proportion of women identified with a significant family history of breast and/or ovarian cancer has major implications regarding the magnitude of a population-based process to identify and manage high-risk individuals.
遗传性乳腺癌和/或卵巢癌高危女性需要特定的癌症预防和早期检测管理策略。本研究的目的是确定初级保健机构中患者家族性乳腺癌和卵巢癌的患病率。向一家初级保健机构中608名年龄小于81岁的女性邮寄了调查问卷。对于未回复者，进行了额外的邮寄和电话随访。数据按血统、亲属关系程度、诊断年龄和癌症类型进行分析。女性被分为三类乳腺癌/卵巢癌家族史：“无家族史”、“意义不显著的家族史”和“意义显著的潜在高危家族史”（同一血统中有两个或更多亲属患有乳腺癌和/或卵巢癌、单个个体患有双侧乳腺癌或乳腺癌和卵巢癌、或在40岁之前患有乳腺癌和/或卵巢癌的女性）。对被归类为“意义显著的潜在高危家族史”的女性进行系谱分析，进一步将这些女性分为遗传性癌症风险可能性的类别。数据来自567名女性（93%）；排除了27名个人诊断为乳腺癌和/或卵巢癌的患者。在其余540名受访者中，351名（65%）无癌症家族史，138名（25.6%）有意义不显著的家族史，51名（9.4%）有意义显著的家族史。根据对这51名患者的系谱分析，19名不太可能有遗传性癌症高危风险，32名（6%）可能有显著风险，需要进行深入评估。大量被确定有乳腺癌和/或卵巢癌意义显著家族史的女性，对于识别和管理高危个体的基于人群的流程规模具有重大意义。
