Endometrial thickness among BRCA mutation carriers undergoing prophylactic oophorectomy.

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY
Michelle Jacobson, Adrianna Klejnotowska, Ping Sun, Steven A Narod, Joanne Kotsopoulos
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Abstract

It has been suggested that women with a pathogenic variant (mutation) in BRCA1 or BRCA2 are at a higher risk of developing high-grade endometrial cancer. Furthermore, significantly higher follicular (but lower luteal) endometrial thickness, a surrogate marker for endometroid adenocarcinoma risk, has been reported for this high-risk population. Given that medications known to affect endometrial thickness (i.e., tamoxifen, oral contraceptives) are often indicated for BRCA mutation carriers, it is important to elucidate substantial differences exist in carriers. Thus, we conducted a retrospective chart review of endometrial thickness among women with a BRCA1 or BRCA2 who had an intact uterus and were referred to a specialized ovarian cancer clinic between 2007 and 2016. Clinical data was collected from chart review, while endometrial thickness (millimeters; mm) was abstracted from transvaginal ultrasound reports with endometrial dating and compared to published levels in the general population. In total, 114 women were identified, 73 of whom were premenopausal and 41 who were postmenopausal. Among premenopausal women, the median follicular endometrial thickness found was 7.00 mm (n = 40, range 3-13) compared to 6.8 mm (range 2.4-14) in non-carriers and the median luteal endometrial thickness was 10.85 mm (n = 30, range 5-18), compared to 9.6 mm (range 3.3-18.2) in non-carriers. Among postmenopausal women, the median menopausal endometrial thickness was 4.0 mm (n = 41, range 1-18) compared to 4.0 mm (range 1-25) in non-carrier controls. Although based on small numbers, we found no significant difference in the endometrial thickness of BRCA mutation carriers versus non-carriers.

预防性卵巢切除术中BRCA突变携带者的子宫内膜厚度。
有研究表明,携带BRCA1或BRCA2致病性变异(突变)的女性患高级别子宫内膜癌的风险更高。此外,据报道,在这一高危人群中,卵泡(但黄体)子宫内膜厚度明显较高,这是子宫内膜样腺癌风险的替代标志。鉴于已知影响子宫内膜厚度的药物(即他莫昔芬、口服避孕药)通常适用于BRCA突变携带者,阐明携带者之间存在的实质性差异是很重要的。因此,我们对2007年至2016年期间在一家专门的卵巢癌诊所就诊的子宫完整且携带BRCA1或BRCA2基因的女性进行了子宫内膜厚度的回顾性图表回顾。临床资料收集自图表回顾,而子宫内膜厚度(毫米;Mm)是从阴道超声报告中提取的子宫内膜测定,并与已发表的普通人群水平进行比较。总共有114名妇女被确定,其中73人处于绝经前,41人处于绝经后。在绝经前妇女中,卵泡子宫内膜中位厚度为7.00 mm (n = 40,范围3-13),而非携带者中位厚度为6.8 mm(范围2.4-14);黄体子宫内膜中位厚度为10.85 mm (n = 30,范围5-18),而非携带者中位厚度为9.6 mm(范围3.3-18.2)。在绝经后妇女中,绝经期子宫内膜厚度中位数为4.0 mm (n = 41,范围1-18),而非携带者对照组为4.0 mm(范围1-25)。虽然基于小数量,我们发现BRCA突变携带者和非携带者的子宫内膜厚度没有显著差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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