Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Real-world investigation of germ line predisposition to myelodysplastic syndromes.

Blood advances - 13 Oct 2026

Tranberg Anna, Creignou Maria, Mortera Blanco Teresa, Bernard Elsa, Björklund Ann-Charlotte, Hillberg Widfeldt Mikaela, Barbosa Indira, Kjellander Kynning Matilda, Cabrerizo Granados David, Lundin Vanessa, Ungerstedt Johanna, Todisco Gabriele, Papaemmanuil Elli, Hellström Lindberg Eva, Tesi Bianca

Abstract excerpt

ABSTRACT: Follow-up of potential germ line variants revealed by diagnostic targeted sequencing (TS) for myelodysplastic syndromes (MDS) has been proposed by clinical guidelines. However, their feasibility and clinical yield in routine MDS practice remain uncertain. We evaluated the real-world applicability of systematic germ line follow-up in an unselected cohort of 716 patients (median age, 74 years) evaluated...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acute Myeloid Leukemia Research
Share to Blood disorders and treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genomics and Rare Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 42532513
DOI: 10.1182/bloodadvances.2026019942
PMCID: PMC13657363

Genes

DDX41
ETV6
GATA2
RUNX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Real-world investigation of germline predisposition to myelodysplastic syndromesPMID 42532513Read ↗

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromesSemantic proximity Read ↗

Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.Semantic proximity Read ↗

Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic MalignanciesSemantic proximity Read ↗

How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasmsSemantic proximity Read ↗

Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasmsSemantic proximity Read ↗

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort StudySemantic proximity Read ↗

Genetic predisposition to MDS: diagnosis and management.Semantic proximity Read ↗

Germline DDX41 Variants: Current Understanding and Future Directions.Semantic proximity Read ↗

The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencingSemantic proximity Read ↗

Genetic predisposition to MDS: clinical features and clonal evolutionSemantic proximity Read ↗

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-upSemantic proximity Read ↗

Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.