Cancer risks associated with the germline MITF(E318K) variant.
Cancer risks associated with the germline MITF(E318K) variant.
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癌症风险与种系MITF（E318K）变异相关。
DOI：
10.1038/s41598-020-74237-z
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发表时间：
2020-10-13
影响因子：
4.6
通讯作者：
Tsao H
中科院分区：
文献类型：
--
作者：
Guhan SM;Artomov M;McCormick S;Njauw C-;Stratigos AJ;Shannon K;Ellisen LW;Tsao H
MITF（E318 K）变异体具有中度皮肤黑色素瘤风险。虽然有小型研究表明这种风险与其他恶性肿瘤（如肾细胞癌）有关，但对这种变异在指定其他癌症风险方面的作用知之甚少。在这项研究中，我们对已发表的数据进行了系统回顾和荟萃分析，作为TCGA和几个基因富集患者队列散发样本中各种癌症MITF（E318 K）风险的基于全外显子组序列（WES）的表征的背景。我们发现MITF（E318 K）对黑色素瘤遗传风险低的个体的非黑色素瘤癌症风险的贡献的证据很少（OR 1.168; 95%CI 0.78-1.74; p = 0.454），这表明该变体与其他恶性肿瘤之间的关联的早期报告可能与共享的环境或多基因风险因素有关，而不是MITF（E318 K）。有趣的是，观察到与子宫癌肉瘤的相关性（OR 9.24; 95% CI 2.08-37.17; p = 0.024），这在以前没有描述过。虽然需要完成更多的研究，但这项研究将有助于更新MITF（E318 K）变异患者的癌症筛查建议。
The MITF(E318K) variant confers moderate risk for cutaneous melanoma. While there are small studies suggesting that this risk is associated with other malignancies (e.g. renal cell carcinoma), little is known about the role of this variant in specifying risk for other cancers. In this study, we perform a systematic review and meta-analysis of the published data as a backdrop to a whole-exome sequence(WES)-based characterization of MITF(E318K) risk for various cancers in sporadic samples from the TCGA and several genetically-enriched patient cohorts. We found minimal evidence of MITF(E318K)’s contribution to non-melanoma cancer risk among individuals with low inherited risks of melanoma (OR 1.168; 95% CI 0.78–1.74; p = 0.454), suggesting that earlier reports of an association between this variant and other malignancies may be related to shared environmental or polygenic risk factors rather than MITF(E318K). Interestingly, an association was observed with uterine carcinosarcoma, (OR 9.24; 95% CI 2.08–37.17; p = 0.024), which was not previously described. While more research needs to be completed, this study will help update cancer screening recommendations for patients with the MITF(E318K) variant.
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影响因子：
5.2
作者：
Artomov, Mykyta;Joseph, Vijai;Daly, Mark J.
通讯作者：
Daly, Mark J.
影响因子：
3.7
作者：
Christensen, Maria Bejerholm;Wadt, Karin;Gerdes, Anne-Marie
通讯作者：
Gerdes, Anne-Marie
影响因子：
10.3
作者：
Mangas, C.;Potrony, M.;Puig, S.
通讯作者：
Puig, S.
影响因子：
64.8
作者：
Bertolotto, Corine;Lesueur, Fabienne;Bressac-de Paillerets, Brigitte
通讯作者：
Bressac-de Paillerets, Brigitte
影响因子：
10.9
作者：
Potrony, Miriam;Puig-Butille, Joan Anton;Puig, Susana
通讯作者：
Puig, Susana