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Fertility in women with BRCA mutations: a case-control study.

机译:患有BRCA突变的女性的生育力:病例对照研究。

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摘要

OBJECTIVE: To investigate whether or not fertility is reduced in women carrying mutations in the BRCA genes (BRCA1 and BRCA2), compared with noncarrier family members. DESIGN: Matched case-control study. SETTING: Academic. PATIENT(S): A total of 2,254 BRCA carriers and 764 noncarrier controls who were from the same families as the carriers, but tested negative for the BRCA mutation. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): History of fertility problems (yeso) and prior use of fertility medications (yeso) in cases and controls, obtained through administered questionnaire. RESULT(S): There was no difference in mean parity between carriers (1.9) and noncarriers (1.9). CONCLUSION(S): This study, which is the first epidemiologic study to specifically investigate the effect of carrying a BRCA mutation on parity and fertility, suggests that there is likely little or no effect of the BRCA gene mutation on fertility. To our knowledge previous epidemiologic studies have not investigated the effect of carrying a BRCA mutation on parity or fertility. However, we expect that if fertility differences exist, they would be toward the limits of reproductive life, thus larger studies with age-stratified analyses are needed to definitively answer this question.
机译:目的:研究携带BRCA基因(BRCA1和BRCA2)突变的女性与非携带者家庭成员相比,生育能力是否降低。设计:匹配的病例对照研究。单位:学术。患者:共有2,254个BRCA携带者和764个非携带者对照,这些携带者与携带者来自同一家族,但BRCA突变检测为阴性。干预措施:无。主要观察指标:病例和对照中生育问题的病史(是/否)和以前使用过生育药物(是/否),可通过管理的调查表获得。结果:运营商(1.9)和非运营商(1.9)之间的平均奇偶校验没有差异。结论:这项研究是第一个专门研究携带BRCA突变对胎次和生育力影响的流行病学研究,表明BRCA基因突变对生育力几乎没有影响。据我们所知,以前的流行病学研究尚未调查携带BRCA突变对胎次或生育能力的影响。但是,我们希望,如果存在生育率差异,那么它们将接近生殖生命的极限,因此需要通过年龄分层分析进行更大的研究,以明确回答这一问题。

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