A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation.
A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation.
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DOI：
10.1038/bjc.2015.13
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发表时间：
2015-03-17
影响因子：
8.8
通讯作者：
Fukuzawa, M.
中科院分区：
文献类型：
--
作者：
Kaneko, Y.;Okita, H.;Haruta, M.;Arai, Y.;Oue, T.;Tanaka, Y.;Horie, H.;Hinotsu, S.;Koshinaga, T.;Yoneda, A.;Ohtsuka, Y.;Taguchi, T.;Fukuzawa, M.
双侧肾母细胞瘤（BWTs）是由多种易感基因的种系突变引起的；其中之一是WT1，在白种人中有17-38%的BWTs报告其异常，而在东亚人中没有进行过此类研究。由于生存率的提高，WT1突变携带者正在增加。通过WT1测序和基于SNP阵列的基因组分析，对31例患者的45例bwt患者的WT1和IGF2状态进行了检测。外显率估计在wt1突变家族性Wilms肿瘤收集从目前和以前的研究。我们在31例患者和两个家族中检测到25例（81%）WT1异常，并将其纳入家族性Wilms肿瘤的外显率分析。在25例患者的35例bwt中，31例具有小的纯合子WT1突变和IGF2的单系二体，而4例具有11p13的大缺失，保留11p的杂合性。如果孩子从父亲那里遗传了小的WT1突变，外显率为100%，如果从母亲那里遗传了突变，或者遗传了或有新生的11p13缺失，无论父母出身如何，外显率为67% （P=0.057）。日本BWTs中WT1异常的高发生率与高加索BWTs的低发生率形成鲜明对比，WT1突变幸存者的遗传咨询需要明确外显率。
Bilateral Wilms tumours (BWTs) occur by germline mutation of various predisposing genes; one of which is WT1 whose abnormality was reported in 17–38% of BWTs in Caucasians, whereas no such studies have been conducted in East-Asians. Carriers with WT1 mutations are increasing because of improved survival. Statuses of WT1 and IGF2 were examined in 45 BWTs from 31 patients with WT1 sequencing and SNP array-based genomic analyses. The penetrance rates were estimated in WT1-mutant familial Wilms tumours collected from the present and previous studies. We detected WT1 abnormalities in 25 (81%) of 31 patients and two families, which were included in the penetrance rate analysis of familial Wilms tumour. Of 35 BWTs from the 25 patients, 31 had small homozygous WT1 mutations and uniparental disomy of IGF2, while 4 had large 11p13 deletions with the retention of 11p heterozygosity. The penetrance rate was 100% if children inherited small WT1 mutations from their fathers, and 67% if inherited the mutations from their mothers, or inherited or had de novo 11p13 deletions irrespective of parental origin (P=0.057). The high incidence of WT1 abnormalities in Japanese BWTs sharply contrasts with the lower incidence in Caucasian counterparts, and the penetrance rates should be clarified for genetic counselling of survivors with WT1 mutations.
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DOI：
10.1159/000132726
发表时间：
1989-01-01
期刊：
CYTOGENETICS AND CELL GENETICS
影响因子：
--
作者：
LAVEDAN, C;BARICHARD, F;JUNIEN, C
通讯作者：
JUNIEN, C
影响因子：
5.1
作者：
Hu, Min;Fletcher, Jeffery;Alexander, Stephen I.
通讯作者：
Alexander, Stephen I.
影响因子：
3.6
作者：
Fencl, Filip;Malina, Michal;Blahova, Kveta
通讯作者：
Blahova, Kveta
影响因子：
1.7
作者：
Leiderman, Yannek I;Kiss, Szilard;Mukai, Shizuo
通讯作者：
Mukai, Shizuo
影响因子：
6.4
作者：
PARKIN, DM;STILLER, CA;BIEBER, CA
通讯作者：
BIEBER, CA