Exome sequencing reveals recurrent germ line variants in patients with familial Waldenström macroglobulinemia
| Autor: | Irene M. Ghobrial, Mick Correll, Jorge J. Castillo, Ma. Reina Improgo, Luisa Imberti, Jiantao Shi, Eliezer M. Van Allen, Jennifer R. Brown, Salomon Manier, Yawara Kawano, Adriana Perilla-Glen, Giuseppe Rossi, Yosra Aljawai, Antonio Sacco, Marco Chiarini, Michele Moschetta, Siobhan Glavey, Aldo M. Roccaro, Winston Hide, Matthew L. Freedman, Irene Rainville, Elaine Hiller, Steven P. Treon, Yuji Mishima |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Male Candidate gene Immunology Biology Biochemistry 03 medical and health sciences Germline mutation medicine Genetic predisposition Humans Exome Family Genetic Predisposition to Disease Allele Exome sequencing Germ-Line Mutation Adaptor Proteins Signal Transducing Genetics Waldenstrom macroglobulinemia Family aggregation High-Throughput Nucleotide Sequencing Membrane Proteins Cell Biology Hematology Blood Proteins medicine.disease 030104 developmental biology Female Waldenstrom Macroglobulinemia |
| Zdroj: | Blood. 127(21) |
| ISSN: | 1528-0020 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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