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保持简单:所有侵袭性浆液性卵巢癌的基因咨询转诊。

Keeping it simple: genetics referrals for all invasive serous ovarian cancers.

机构信息

Division of Gynecologic Oncology, Princess Margaret Hospital, University Health Network, Toronto, Canada.

出版信息

Gynecol Oncol. 2013 Aug;130(2):329-33. doi: 10.1016/j.ygyno.2013.05.003. Epub 2013 May 22.

Abstract

OBJECTIVE

In the province of Ontario, all women diagnosed with invasive serous ovarian cancer are eligible for genetic testing for mutations in the BRCA1 and BRCA2 genes. This study aimed to determine the proportion of these women who are seen for genetic counseling and to identify potential predictors and barriers to having genetic counseling.

METHODS

All women who were diagnosed with invasive serous ovarian cancer and had genetic counseling at Princess Margaret Hospital (PMH) between 2002 and 2009 were identified. Logistic regressions and trend analyses explored age at diagnosis, year at diagnosis, and the time between diagnosis and genetic counseling. Genetic counseling outcomes were also examined.

RESULTS

Of 623 women diagnosed with invasive serous ovarian cancer, 144 (23%) were seen for genetic counseling. As age at diagnosis increased, the likelihood of genetic counseling decreased (p=0.005). With a more recent date of diagnosis, the probability of having genetic counseling increased (p=0.032) while the time to genetic counseling decreased (p=0.001). Of women who pursued genetic testing, 31% were found to have a BRCA1 or BRCA2 mutation, 16% of whom had no family history of breast or ovarian cancer.

CONCLUSIONS

Despite the availability of genetic testing, only a small proportion of women with invasive serous ovarian cancer were seen for genetic counseling. Over time, an improvement in the proportion of women being seen for genetic counseling was noted; however barriers to seeing women with a later age at diagnosis or those with no family history of breast or ovarian cancer clearly exist.

摘要

目的

在安大略省,所有被诊断患有侵袭性浆液性卵巢癌的女性都有资格接受 BRCA1 和 BRCA2 基因突变的基因检测。本研究旨在确定接受基因咨询的这些女性的比例,并确定进行基因咨询的潜在预测因素和障碍。

方法

确定了 2002 年至 2009 年期间在玛格丽特公主医院(PMH)接受基因咨询的所有被诊断患有侵袭性浆液性卵巢癌的女性。逻辑回归和趋势分析探讨了诊断时的年龄、诊断年份以及诊断和基因咨询之间的时间间隔。还检查了基因咨询的结果。

结果

在 623 名被诊断患有侵袭性浆液性卵巢癌的女性中,有 144 名(23%)接受了基因咨询。随着诊断时年龄的增加,接受基因咨询的可能性降低(p=0.005)。最近的诊断日期,接受基因咨询的可能性增加(p=0.032),而接受基因咨询的时间缩短(p=0.001)。在进行基因检测的女性中,31%发现有 BRCA1 或 BRCA2 突变,其中 16%没有乳腺癌或卵巢癌家族史。

结论

尽管有基因检测,只有一小部分患有侵袭性浆液性卵巢癌的女性接受了基因咨询。随着时间的推移,接受基因咨询的女性比例有所提高;然而,对于诊断年龄较大或没有乳腺癌或卵巢癌家族史的女性,存在明显的咨询障碍。

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