尽早进行：卵巢癌诊断后的基因检测。

The sooner the better: Genetic testing following ovarian cancer diagnosis.

机构信息

The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Familial Breast and Ovarian Cancer Clinic, Princess Margaret Cancer Center, Toronto, ON, Canada.

Familial Breast and Ovarian Cancer Clinic, Princess Margaret Cancer Center, Toronto, ON, Canada.

出版信息

Gynecol Oncol. 2015 Jun;137(3):423-9. doi: 10.1016/j.ygyno.2015.03.057. Epub 2015 Apr 11.

DOI:10.1016/j.ygyno.2015.03.057

PMID:25868966

Abstract

OBJECTIVE

As treatment based genetic testing becomes a reality, it is important to assess the attitudes and preferences of women newly diagnosed with ovarian cancer regarding genetic testing. The objective of this study was to determine when women with a diagnosis of high grade serous ovarian cancer would prefer to undergo genetic testing and factors that influence this preference.

METHODS

Women over 18years of age with a known diagnosis of high grade serous ovarian cancer diagnosed between October 2010-2013 were identified via the Princess Margaret Cancer Center Registry. Participants completed a questionnaire, which obtained preferences and attitudes towards genetic testing, cancer history, and demographic information.

RESULTS

120 of the 355 women identified (33.8%) completed the questionnaires. The median age at time of ovarian cancer diagnosis was 57years (range 35-84). The majority of participants in this study were offered (94.6%) and pursued (84.8%) genetic testing. In this cohort, testing was most frequently offered at diagnosis (41.8%) or during treatment (19.1%). In this study, women with high grade serous ovarian cancer felt that genetic testing should be offered before or at the time of diagnosis (67.8%). Having a family history of breast or ovarian cancer was significantly (p=0.012) associated with preferring genetic testing at an earlier time point in the disease course.

CONCLUSIONS

Our results demonstrate that women with high grade serous ovarian cancer acknowledge the personal and clinical utility of genetic testing and support test implementation at the time of cancer diagnosis.

摘要

目的

随着基于治疗的基因检测成为现实，评估新诊断为卵巢癌的女性对基因检测的态度和偏好变得尤为重要。本研究旨在确定女性在何种情况下更愿意接受基因检测，以及影响这种偏好的因素。

方法

通过玛格丽特公主癌症中心登记册，确定了 2010 年 10 月至 2013 年间已知患有高级别浆液性卵巢癌的 18 岁以上女性。参与者完成了一份问卷，该问卷获取了对基因检测的偏好和态度、癌症史以及人口统计学信息。

结果

在确定的 355 名女性中，有 120 名（33.8%）完成了问卷调查。卵巢癌诊断时的中位年龄为 57 岁（范围为 35-84 岁）。本研究中的大多数参与者都接受了（94.6%）并进行了（84.8%）基因检测。在这组患者中，检测最常在诊断时（41.8%）或治疗期间（19.1%）进行。在这项研究中，高级别浆液性卵巢癌患者认为基因检测应该在诊断前或诊断时进行（67.8%）。有乳腺癌或卵巢癌家族史的患者（p=0.012）更倾向于在疾病过程的早期进行基因检测。