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BRCA 基因突变检测呈阳性后的女性选择的风险管理方案。

Risk management options elected by women after testing positive for a BRCA mutation.

机构信息

Kaiser Permanente Medical Group, Gynecologic Oncology Division, USA.

Kaiser Permanente Medical Group, Division of Research, USA.

出版信息

Gynecol Oncol. 2014 Feb;132(2):428-33. doi: 10.1016/j.ygyno.2013.12.014. Epub 2013 Dec 16.

Abstract

OBJECTIVE

To assess the uptake of risk-reducing options for the management of ovarian and breast cancer risk in BRCA mutation carriers in a large community based integrated health system in Northern California.

METHODS

A retrospective cohort of deleterious BRCA mutation carriers (1995-2012) was evaluated for consistency with NCCN guidelines for risk reducing salpingo-oophorectomy (RRSO) by age of 35-40, risk reducing mastectomy (RRM), as well as surveillance practices, including pelvic ultrasound, CA 125, mammogram, and breast MRI. Secondary outcomes included the use of chemoprevention and hormone replacement.

RESULTS

Of the 305 eligible women, 170 were BRCA1 positive, and 135 were BRCA2 positive. Seventy four percent underwent RRSO with only 17% under age 40, while 44% underwent RRM. The median time from the test to both RRSO and RRM was 6 months. In the first year after BRCA diagnosis, 45% underwent a pelvic ultrasound, dropping to 2.3% by year 5. In year 1, 47% had a CA 125, dropping to 2% by year 5. The number of women undergoing annual MRI and mammogram fell similarly over time. Sixteen percent of BRCA carriers used oral contraceptives (OCPs) and only one patient used tamoxifen for chemoprevention.

CONCLUSION

Uptake of RRSO in BRCA carriers in a population based health system is high, however the majority of women do not have RRSO by the NCCN recommended age. Compliance with surveillance is low and rapidly declines even 1 year out from testing. Attention needs to be focused on the earlier identification of BRCA mutation carriers with consolidated and standardized care to improve risk reduction.

摘要

目的

评估在加利福尼亚北部一个大型社区综合卫生系统中,BRCA 基因突变携带者对卵巢和乳腺癌风险降低选择的接受程度。

方法

回顾性评估了 1995 年至 2012 年间具有有害 BRCA 基因突变的携带者(n=305),评估其是否符合 NCCN 指南对 35-40 岁年龄的降低风险输卵管卵巢切除术(RRSO)、降低风险乳房切除术(RRM)以及监测实践的建议,包括盆腔超声、CA 125、乳房 X 线照相术和乳房 MRI。次要结果包括化学预防和激素替代的使用。

结果

在 305 名合格的女性中,170 名 BRCA1 阳性,135 名 BRCA2 阳性。74%的人接受了 RRSO,但只有 17%的人在 40 岁以下,而 44%的人接受了 RRM。从检测到 RRSO 和 RRM 的中位时间为 6 个月。在 BRCA 诊断后的第一年,45%的人接受了盆腔超声检查,到第 5 年降至 2.3%。在第一年,47%的人进行了 CA 125 检查,到第 5 年降至 2%。每年进行 MRI 和乳房 X 线照相术的女性人数也随之下降。16%的 BRCA 携带者使用口服避孕药(OCPs),只有 1 名患者使用他莫昔芬进行化学预防。

结论

在基于人群的卫生系统中,BRCA 携带者接受 RRSO 的比例很高,但大多数女性不符合 NCCN 推荐的年龄。监测的依从性较低,甚至在检测后 1 年内迅速下降。需要关注的是,更早地识别 BRCA 基因突变携带者,提供综合和标准化的护理,以改善风险降低。

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