Dominguez Francisco J, Jones Julie L, Zabicki Katherina, Smith Barbara L, Gadd Michele A, Specht Michele, Kopans Daniel B, Moore Richard H, Michaelson James S, Hughes Kevin S
Division of Surgical Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
Cancer. 2005 Nov 1;104(9):1849-53. doi: 10.1002/cncr.21393.
Identifying BRCA1 and BRCA2 mutation carriers is increasingly important as new management options show promise in decreasing morbidity and mortality in these women. The authors sought to determine the prevalence of family histories suggestive of a hereditary breast carcinoma syndrome in a cohort of patients with a personal history of breast and/or ovarian carcinoma presenting for mammography.
The authors reviewed the family histories of all women with a history of breast or ovarian carcinoma presenting for mammography over a 37-week period. Using the Myriad model, the authors evaluated the prevalence of family histories with a > or = 10% risk of a BRCA1 or BRCA2 mutation.
During the period of the current study, 14,597 women completed a family history questionnaire. Of these women, 1764 had a personal history of breast or ovarian carcinoma, 86.6% had unilateral breast carcinoma, 4.6% had bilateral breast carcinoma, 8.2% had ovarian carcinoma, and 0.5% had both breast and ovarian carcinoma. Overall, 20.6% met the criteria for a > or = 10% risk of mutation according to the Myriad model. This incidence was higher among Ashkenazi women (47.3%) and among patients with a personal history of ovarian carcinoma (35.9%).
Application of the Myriad model to women with a personal history of breast and ovarian carcinoma suggested that approximately 1 in 5 of these women (20.6%) will have family histories suspicious for a genetic mutation. This risk was higher for Ashkenazi women and for those with a personal history of ovarian carcinoma. This prevalence was considerably higher than the rate reported among women with no personal history of cancer, and has significant implications for their management, as well as for the capacity for risk assessment and testing.
随着新的治疗方案有望降低携带BRCA1和BRCA2基因突变女性的发病率和死亡率，识别这些突变携带者变得越来越重要。作者试图确定在一组因乳腺摄影前来就诊且有个人乳腺癌和/或卵巢癌病史的患者中，提示遗传性乳腺癌综合征家族史的患病率。
作者回顾了在37周期间所有因乳腺摄影前来就诊且有乳腺癌或卵巢癌病史女性的家族史。使用Myriad模型，作者评估了BRCA1或BRCA2基因突变风险≥10%的家族史的患病率。
在本研究期间，14597名女性完成了家族史问卷。在这些女性中，1764名有个人乳腺癌或卵巢癌病史，86.6%为单侧乳腺癌，4.6%为双侧乳腺癌，8.2%为卵巢癌，0.5%同时患有乳腺癌和卵巢癌。总体而言，根据Myriad模型，20.6%的女性符合基因突变风险≥10%的标准。在德系犹太女性（47.3%）和有个人卵巢癌病史的患者（35.9%）中，这一发生率更高。
将Myriad模型应用于有个人乳腺癌和卵巢癌病史的女性表明，这些女性中约五分之一（20.6%）的家族史可疑存在基因突变。德系犹太女性以及有个人卵巢癌病史的女性的这一风险更高。这一患病率远高于无个人癌症病史女性的报告率，对她们的治疗以及风险评估和检测能力具有重要意义。
