Strategy for identification of a potential inherited leukemia predisposition in a 299 patient’s cohort with tumor-only sequencing data

Almudena Aguilera-Diaz,María José Larrayoz,Sara Palomino-Echeverría,Iria Vazquez,Beñat Ariceta, Amagoia Mañú, Zuriñe Blasco-Iturri, Teresa Bernal del Castillo, Matxalen Olivares Salaverri, Maria Teresa Olave Rubio, Jose Rifon-Roca,Ana Alfonso-Pierola,Felipe Prosper,Marta Fernandez-Mercado,María José Calasanz

Leukemia Research（2020）

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摘要

•90 of 299 patient samples sequenced harbored variants with VAF∼50% in MNGP genes.•Available cases sequencing data confirmed as germline 60% (6/10) suspicious variants.•Only skin fibroblasts, hair bulbs and CD3+ cells helped discerning variants nature.

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关键词

Myeloid,NGS,Myeloid neoplasms predisposition,Germline,Genetic counseling

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