van Leeuwaarde Rachel S, Dreijerink Koen M, Ausems Margreet G, Beijers Hanneke J, Dekkers Olaf M, de Herder Wouter W, van der Horst-Schrivers Anouk N, Drent Madeleine L, Bisschop Peter H, Havekes Bas, Peeters Petra H M, Pijnappel Ruud M, Vriens Menno R, Valk Gerlof D
Department of Endocrine Oncology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Department of Clinical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
J Clin Endocrinol Metab. 2017 Jun 1;102(6):2083-2090. doi: 10.1210/jc.2016-3690.
Multiple endocrine neoplasia type 1 (MEN1) is associated with an early-onset elevated breast cancer risk. This finding potentially has implications for breast cancer screening for women with MEN1, and therefore it is necessary to assess whether other risk factors are involved to identify those at greatest risk.
A cross-sectional case control study was performed using the Dutch MEN1 cohort, including >90% of the adult Dutch MEN1 population. All women with a confirmed MEN1 mutation received a questionnaire regarding cancer family history and breast cancer-related endocrine and general cancer risk factors.
A total of 138 of 165 (84%) eligible women with MEN1 completed the questionnaire. Eleven of the 138 women had breast cancer. Another 34 relatives with breast cancer were identified in the families of the included women, of whom 11 were obligate MEN1 carriers, 14 had no MEN1 mutation, and 9 had an unknown MEN1 status. The median age at breast cancer diagnosis of women with MEN1 (n = 22) was 45 years (range, 30 to 80 years), in comparison with 57.5 years (range, 40 to 85 years) in female relatives without MEN1 (n = 14; P = 0.03) and 61.2 years in the Dutch reference population. Known endocrine risk factors and general risk factors were not different for women with and without breast cancer.
The increased breast cancer risk in MEN1 carriers was not related to other known breast cancer risk factors or familial cancer history, and therefore breast cancer surveillance from the age of 40 years for all women with MEN1 is justifiable.
1型多发性内分泌腺瘤病(MEN1)与乳腺癌发病风险提前升高有关。这一发现可能对MEN1女性的乳腺癌筛查有影响,因此有必要评估是否涉及其他风险因素,以识别出风险最高的人群。
采用荷兰MEN1队列进行了一项横断面病例对照研究,该队列包括超过90%的成年荷兰MEN1人群。所有确诊有MEN1突变的女性都收到了一份关于癌症家族史以及与乳腺癌相关的内分泌和一般癌症风险因素的问卷。
165名符合条件的MEN1女性中,共有138名(84%)完成了问卷。138名女性中有11名患有乳腺癌。在所纳入女性的家族中还识别出另外34名患有乳腺癌的亲属,其中11名是MEN1的必然携带者,14名没有MEN1突变,9名MEN1状态未知。MEN1女性(n = 22)乳腺癌诊断时的中位年龄为45岁(范围30至80岁),相比之下,无MEN1的女性亲属(n = 14)为57.5岁(范围40至85岁)(P = 0.03),荷兰参考人群为61.2岁。有乳腺癌和无乳腺癌的女性在已知的内分泌风险因素和一般风险因素方面并无差异。
MEN1携带者中增加的乳腺癌风险与其他已知的乳腺癌风险因素或家族癌症病史无关,因此对所有MEN1女性从40岁起进行乳腺癌监测是合理的。