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日本有乳腺癌或卵巢癌病史患者中遗传性乳腺癌/卵巢癌风险的患病率。

The prevalence of hereditary breast/ovarian cancer risk in patients with a history of breast or ovarian cancer in Japanese subjects.

作者信息

Komata Dai, Yahata Tetsuro, Kodama Shoji, Koyama Yu, Takeda Nobuo, Tajima Kenzo, Makino Haruhiko, Sato Nobuaki, Muto Ichiro, Hatakeyama Katsuyoshi, Tanaka Kenichi

机构信息

Division of Obstetrics and Gynecology, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan.

出版信息

J Obstet Gynaecol Res. 2009 Oct;35(5):912-7. doi: 10.1111/j.1447-0756.2009.01090.x.

DOI:10.1111/j.1447-0756.2009.01090.x
PMID:20149041
Abstract

AIM

Women at high risk for hereditary breast/ovarian cancer require specific management strategies for cancer prevention and early detection. The authors sought to determine the prevalence of family histories suggestive of a hereditary breast/ovarian cancer syndrome in patients with a personal history of breast or ovarian cancer in Japanese women.

METHODS

Family history (first- and second-degree relatives) data were collected by a self-administered questionnaire for women with a history of breast or ovarian cancer in six major cancer treating hospitals in Niigata prefecture, Japan.

RESULTS

Data were obtained from 1463 women: 626 women with a history of breast cancer, 289 women with a history of ovarian cancer and 548 women without a history of any cancer as controls. Women with a family history of breast and/or ovarian cancer had OR of breast cancer of 2.3 (95% confidential interval [CI] 1.5-3.7) and ovarian cancer of 2.2 (95% CI 1.3-3.8). The risk was higher when the proband was younger or when two or more relatives were affected. Among women with a history of breast or ovarian cancer, 7.5% met the criteria for a 10% risk of a BRCA1 or BRCA2 mutation according to the Myriad model.

CONCLUSION

Obtaining a detailed breast and ovarian cancer family history and the application of the Myriad model is useful for identifying women at an elevated genetic risk of breast and ovarian cancer. The estimation for the prevalence of hereditary breast/ovarian cancer syndrome has significant implications for a patient's management, as well as for the capacity for risk assessment and testing.

摘要

目的

遗传性乳腺癌/卵巢癌高危女性需要针对癌症预防和早期检测的特定管理策略。作者试图确定日本女性中具有乳腺癌或卵巢癌个人病史的患者中提示遗传性乳腺癌/卵巢癌综合征的家族史患病率。

方法

通过自我管理问卷收集了日本新潟县六家主要癌症治疗医院中患有乳腺癌或卵巢癌病史女性的家族史(一级和二级亲属)数据。

结果

从1463名女性中获取了数据:626名有乳腺癌病史的女性、289名有卵巢癌病史的女性以及548名无任何癌症病史的女性作为对照。有乳腺癌和/或卵巢癌家族史的女性患乳腺癌的比值比为2.3(95%置信区间[CI]1.5 - 3.7),患卵巢癌的比值比为2.2(95%CI 1.3 - 3.8)。当先证者年龄较小或有两个或更多亲属患病时,风险更高。在有乳腺癌或卵巢癌病史的女性中,根据Myriad模型,7.5%符合BRCA1或BRCA2突变风险为10%的标准。

结论

获取详细的乳腺癌和卵巢癌家族史并应用Myriad模型有助于识别乳腺癌和卵巢癌遗传风险升高的女性。遗传性乳腺癌/卵巢癌综合征患病率的估计对患者管理以及风险评估和检测能力具有重要意义。

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