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Article

Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML.

Blood - 24 Feb 2022

Yang Fei, Long Nicola, Anekpuritanang Tauangtham, Bottomly Daniel, Savage Jonathan C, Lee Tiffany, Solis-Ruiz Jose, Borate Uma, Wilmot Beth, Tognon Cristina, Bock Allison M, Pollyea Daniel A, Radhakrishnan Saikripa, Radhakrishnan Srinidhi, Patel Prapti, Collins Robert H, Tantravahi Srinivas, Deininger Michael W, Fan Guang, Druker Brian, Shinde Ujwal, Tyner Jeffrey W, Press Richard D, McWeeney Shannon, Agarwal Anupriya

Abstract excerpt

Inherited predisposition to myeloid malignancies is more common than previously appreciated. We analyzed the whole-exome sequencing data of paired leukemia and skin biopsy samples from 391 adult patients from the Beat AML 1.0 consortium. Using the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines for variant interpretation, we curated 1547 unique variants from 228 genes. The...

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Identifiers

PMID: 34482403
DOI: 10.1182/blood.2021011354
PMCID: PMC9211447

Genes

CHEK2
DDX41
DNAH5
DNAH9
DNMT3A
SUZ12

Provenance

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