Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation.
Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation.
复制标题
DOI：
10.1002/ijc.25565
复制
发表时间：
2011-05-15
影响因子：
6.4
通讯作者：
Meadows, Anna T.
中科院分区：
文献类型：
--
作者：
Bunin, Greta R.;Felice, Marc A.;Davidson, William;Friedman, Debra L.;Shields, Carol L.;Maidment, Andrew;O'Shea, Michael;Nichols, Kim E.;Leahey, Ann;Dunkel, Ira J.;Jubran, Rima;Rodriguez-Galindo, Carlos;Schmidt, Mary Lou;Weinstein, Joanna L.;Goldman, Stewart;Abramson, David H.;Wilson, Matthew W.;Gallie, Brenda L.;Chan, Helen S. L.;Shapiro, Michael;Cnaan, Avital;Ganguly, Arupa;Meadows, Anna T.
尽管电离辐射会导致动物生殖系突变，但人类对辐射暴露人群的研究尚未发现这种影响。我们进行了一项散发性双侧视网膜母细胞瘤的病例对照研究，该肿瘤是由一个新的生殖系RB1突变引起的，以调查父母在孩子受孕前从医学来源获得的性腺辐射。来自9个北美机构和269个对照的206个病例的父母参加了调查；184个病例和223个亲友对照的父亲和204个病例和260个对照的母亲在电话访谈中提供了有关其医疗辐射暴露的信息。2例提供了用于RB1突变检测的DNA。在常见的手术中，较低的GI系列对睾丸和卵巢的估计剂量最高。低GI系列的父亲史与儿童患视网膜母细胞瘤的风险增加相关(匹配优势比(OR)=3.6，95%可信区间(CI)1.2，11.2，双侧P=0.02)，所有手术加起来估计的睾丸总剂量(OR=3.9，95%CI 1.2，14.4，P=0.02)。与估计的总剂量(OR=3.0，95%CI1.4，7.0，P=0.005)相比，低GI系列的母亲病史也与风险增加相关(OR=7.695%CI2.8，20.7，P<；0.001)。双亲暴露者的RB1突变谱与其他病例无明显差异。一些动物和人类的数据支持我们的发现，即男性和女性的性腺辐射暴露与在他们的孩子中检测到新的生殖系RB1突变有关，尽管偏见、混淆和/或机会也可以解释结果。
Although ionizing radiation induces germline mutations in animals, human studies of radiation-exposed populations have not detected an effect. We conducted a case-control study of sporadic bilateral retinoblastoma, which results from a new germline RB1 mutation, to investigate gonadal radiation exposure of parents from medical sources before their child's conception. Parents of 206 cases from 9 North American institutions and 269 controls participated; fathers of 184 cases and 223 friend and relative controls and mothers of 204 cases and 260 controls provided information in telephone interviews on their medical radiation exposure. Cases provided DNA for RB1 mutation testing. Of common procedures, lower GI series conferred the highest estimated dose to testes and ovaries. Paternal history of lower GI series was associated with increased risk of retinoblastoma in the child (matched odds ratio (OR)=3.6, 95% confidence interval (CI) 1.2, 11.2, 2-sided P=0.02), as was estimated total testicular dose from all procedures combined (OR for highest dose=3.9, 95% CI 1.2, 14.4, P =0.02). Maternal history of lower GI series was also associated with increased risk (OR=7.6, 95% CI 2.8, 20.7, P <0.001) as was estimated total dose (OR for highest dose=3.0, 95% CI 1.4, 7.0, P =0.005). The RB1 mutation spectrum in cases of exposed parents did not differ from that of other cases. Some animal and human data support our findings of an association of gonadal radiation exposure in men and women with new germline RB1 mutation detectable in their children, although bias, confounding, and/or chance may also explain the results.
登录
查看更多内容
影响因子：
2.6
作者：
Mazonakis, M;Damilakis, J;Gourtsoyiannis, N
通讯作者：
Gourtsoyiannis, N
影响因子：
5.3
作者：
Dryja, TP;Morrow, JF;Rapaport, JM
通讯作者：
Rapaport, JM
影响因子：
9.8
作者：
Richter, S;Vandezande, K;Gallie, B
通讯作者：
Gallie, B
影响因子：
3.6
作者：
Nagano, MC
通讯作者：
Nagano, MC
影响因子：
64.8
作者：
ZHU, XP;DUNN, JM;GALLIE, BL
通讯作者：
GALLIE, BL