Mancini Julien, Mouret-Fourme Emmanuelle, Noguès Catherine, Julian-Reynier Claire
Aix Marseille Université, Inserm, IRD, UMR912 SESSTIM, 13385, Marseille, France,
Fam Cancer. 2015 Jun;14(2):273-9. doi: 10.1007/s10689-014-9777-5.
Previous qualitative and intentions surveys have shown that the disclosure of a BRCA1/2 mutation might deter young women from becoming pregnant. However, to our knowledge, no comparative studies have ever documented the possibility that positive genetic test results might affect these women's future reproductive rates. Our aim was therefore to quantify the impact of BRCA1/2 mutation disclosure on long-term relationships between partners and childbearing rates. Participants were cancer-free women belonging to families in which a deleterious BRCA1/2 mutation had been identified, who had attended one of the 29 participating cancer genetic clinics for BRCA1/2 testing between 2000 and 2006. Logistic regression models were used to determine predictors of the 5-year self-reported parenthood rate. The sample consisted of 271 women aged 18-45 years (126 BRCA1/2 mutation carriers and 145 non-carriers). Couples had separated more frequently among BRCA1/2 carriers than non-carriers (10 vs. 3%, p = .040), especially among nulliparous carriers (13%). Among the 104 women who were childless at disclosure, disclosure of a BRCA1/2 mutation was not significantly associated with childbearing during the 5-year follow-up period [adjusted odds ratio .64, 95% confidence interval (CI) (.26, 1.57), p = .334]. Among the 167 women with at least one child at disclosure of a BRCA1/2 mutation had no conspicuous effect on the childbearing trends [adjOR .88, 95% CI (.35, 2.21), p = .787]. The disclosure of a BRCA1/2 mutation might impact couples' relationships and future mothering rates, particularly among nulliparous women. Studies on larger populations are now required to confirm these findings.
以往的定性研究和意向性调查表明，BRCA1/2基因突变的披露可能会阻碍年轻女性怀孕。然而，据我们所知，尚无比较研究记录基因检测呈阳性的结果可能影响这些女性未来生育率的可能性。因此，我们的目的是量化BRCA1/2基因突变披露对伴侣间长期关系和生育率的影响。参与者为未患癌症的女性，她们所属家庭中已鉴定出有害的BRCA1/2基因突变，于2000年至2006年间在29家参与研究的癌症基因诊所之一接受了BRCA1/2检测。采用逻辑回归模型确定5年自我报告的生育率的预测因素。样本包括271名年龄在18 - 45岁的女性（126名BRCA1/2基因突变携带者和145名非携带者）。BRCA1/2基因突变携带者中夫妻分居的频率高于非携带者（分别为10%和3%，p = 0.040），尤其是未育携带者（13%）。在披露时未育的104名女性中，BRCA1/2基因突变的披露与5年随访期内的生育情况无显著关联[调整后的优势比为0.64，95%置信区间（CI）（0.26, 1.57），p = 0.334]。在披露BRCA1/2基因突变时至少育有一个孩子的167名女性中，该突变对生育趋势无明显影响[调整后的优势比为0.88，95%置信区间（0.35, 2.21），p = 0.787]。BRCA1/2基因突变的披露可能会影响夫妻关系和未来的生育率，尤其是在未育女性中。现在需要对更多人群进行研究以证实这些发现。
