Exome sequencing reveals recurrent germ line variants in patients with familial Waldenstrom macroglobulinemia
Exome sequencing reveals recurrent germ line variants in patients with familial Waldenstrom macroglobulinemia
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DOI：
10.1182/blood-2015-11-680199
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发表时间：
2016-05-26
期刊：
影响因子：
20.3
通讯作者：
Ghobrial, Irene M.
中科院分区：
文献类型：
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作者：
Roccaro, Aldo M.;Sacco, Antonio;Ghobrial, Irene M.
Waldenstrom巨球蛋白血症（WM）病例的家族聚集性和WM患者一级亲属中b细胞增生性疾病的聚集性已被报道。然而，家族性WM的遗传易感性的可能贡献仍未揭示。我们对来自4个家族成员的生殖系DNA进行了全外显子组测序，其中3个家族成员记录了WM的共遗传，并通过基因特异性突变测序筛选了另外246例独立病例。在共有种系变异中，LAPTM5（c403t）和HCLS1（g496a）是最常见的，存在于3/3的指数家族受影响成员中，在8%的非家族性病例中检测到，在0.5%的非家族性病例中检测到
Familial aggregation of Waldenstrom macroglobulinemia (WM) cases, and the clustering of B-cell lymphoproliferative disorders among first-degree relatives of WM patients, has been reported. Nevertheless, the possible contribution of inherited susceptibility to familial WM remains unrevealed. We performed whole exome sequencing on germ line DNA obtained from 4 family members in which coinheritance for WM was documented in 3 of them, and screened additional independent 246 cases by using gene-specific mutation sequencing. Among the shared germ line variants, LAPTM5(c403t) and HCLS1(g496a) were the most recurrent, being present in 3/3 affected members of the index family, detected in 8% of the unrelated familial cases, and present in 0.5% of the nonfamilial cases and in