Ribeiro-Guerra Maximiliano, Dondon Marie-Gabrielle, Eon-Marchais Séverine, Le Gal Dorothée, Beauvallet Juana, Mebirouk Noura, Belotti Muriel, Cavaciuti Eve, Adenis-Lavignasse Claude, Audebert-Bellanger Séverine, Berthet Pascaline, Bonadona Valérie, Buecher Bruno, Caron Olivier, Cavaille Mathias, Chiesa Jean, Colas Chrystelle, Coupier Isabelle, Delnatte Capucine, Dreyfus Hélène, Fajac Anne, Fert-Ferrer Sandra, Fricker Jean-Pierre, Gauthier-Villars Marion, Gesta Paul, Giraud Sophie, Gladieff Laurence, Lasset Christine, Lejeune-Dumoulin Sophie, Limacher Jean-Marc, Longy Michel, Lortholary Alain, Luporsi Elisabeth, Maugard Christine M, Mortemousque Isabelle, Nambot Sophie, Noguès Catherine, Pujol Pascal, Venat-Bouvet Laurence, Soubrier Florent, Tinat Julie, Tardivon Anne, Lesueur Fabienne, Stoppa-Lyonnet Dominique, Andrieu Nadine
Inserm, U1331, 75248 Paris cedex 05, France.
Institut Curie, 75248 Paris cedex 05, France.
Cancers (Basel). 2025 Mar 21;17(7):1062. doi: 10.3390/cancers17071062.
Women with a familial predisposition to breast cancer (BC) are offered screening at earlier ages and more frequently than women from the general population.
We evaluated the effect of screening mammography in 1552 BC cases with a hereditary predisposition to BC unexplained by or and 1363 unrelated controls. Participants reported their lifetime mammography exposures in a detailed questionnaire. Germline rare deleterious or predicted deleterious variants (D-PDVs) in 113 DNA repair genes were investigated in 82.5% of the women and classified according to the strength of their association with BC. Genes with an odds ratio (OR) < 0.9 was assigned to the Gene Group "Reduced", those with OR ≥ 0.9 and ≤1.1 to Group "Independent", and those with OR > 1.1 to Group "Increased".
Overall, having been exposed to mammograms (never vs. ever) was not associated with BC risk. However, an increase in BC risk of 4% (95% CI: 1-6%) per additional exposure was found under the assumption of linearity. When grouped according to D-PDV carrier status, mammograms doubled the BC risk of women carrying a D-PDV in Group "Reduced", as compared to those carrying a D-PDV in Group "Increased".
Our study is the first to investigate the joint effect of mammogram exposure and variants in DNA repair genes other than and in women at high risk of BC; therefore, further studies are needed to verify our findings. Even though mammographic screening reduces the risk of mortality from BC, the identification of populations that are more or less susceptible to ionizing radiation may be clinically relevant.
与一般人群中的女性相比，有乳腺癌（BC）家族易感性的女性接受筛查的年龄更早且频率更高。
我们评估了乳腺钼靶筛查对1552例有BC遗传易感性且无法用 或 及 解释的BC病例和1363名无关对照者的影响。参与者通过详细问卷报告其一生中的乳腺钼靶检查情况。在82.5%的女性中研究了113个DNA修复基因中的种系罕见有害或预测有害变异（D - PDV），并根据它们与BC的关联强度进行分类。比值比（OR）<0.9的基因被归入“降低”基因组，OR≥0.9且≤1.1的基因归入“独立”组，OR>1.1的基因归入“增加”组。
总体而言，接受过乳腺钼靶检查（从未接受过与曾经接受过）与BC风险无关。然而，在线性假设下，每次额外接受检查会使BC风险增加4%（95%置信区间：1 - 6%）。根据D - PDV携带者状态分组时，与“增加”组中携带D - PDV的女性相比，乳腺钼靶检查使“降低”组中携带D - PDV的女性的BC风险增加了一倍。
我们的研究首次调查了乳腺钼靶暴露与除 和 之外的DNA修复基因变异对BC高危女性的联合影响；因此，需要进一步研究来验证我们的发现。尽管乳腺钼靶筛查可降低BC导致的死亡风险，但识别对电离辐射更易感性或不易感性的人群可能具有临床意义。
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