Research graph
References from Outcomes of germ line testing for children with hematologic malignancies undergoing hematopoietic cell transplantation. Local targets link to admitted publications; unresolved targets remain external evidence.
Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages
10.1182/blood.2022015790 · 2022 · External reference
Childhood acute myeloid leukemia shows a high level of germline predisposition
10.1182/blood.2021012666 · 2021 · External reference
Cancer germline predisposing variants and late mortality from subsequent malignant neoplasms among long-term childhood cancer survivors: a report from the St Jude Lifetime Cohort and the Childhood Cancer Survivor Study
10.1016/s1470-2045(23)00403-5 · 2023 · External reference
Evaluation of patients and families with concern for predispositions to hematologic malignancies within the Hereditary Hematologic Malignancy Clinic (HHMC)
10.1016/j.clml.2016.04.001 · 2016 · External reference
First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation
10.1182/blood-2010-12-326322 · 2011 · External reference
Donor-derived MDS/AML in families with germline GATA2 mutation
10.1182/blood-2018-07-861070 · 2018 · External reference
Donor cell leukemia arising from preleukemic clones with a novel germline DDX41 mutation after allogenic hematopoietic stem cell transplantation
10.1038/leu.2017.44 · 2017 · External reference
Donor-derived malignancy and transplantation morbidity: risks of patient and donor genetics in allogeneic hematopoietic stem cell transplantation
2024 · External reference
Germline predisposition to haematological malignancies: best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group
10.1111/bjh.18675 · 2023 · External reference
Approach toward germline predisposition syndromes in patients with hematologic malignancies
10.1007/s11899-022-00684-2 · 2022 · External reference
Risk assessment and genetic counseling for hematologic malignancies-practice resource of the National Society of Genetic Counselors
10.1002/jgc4.1959 · 2025 · External reference
Unresolved reference
External reference
Germline predisposition to myeloid neoplasms: diagnostic concepts and classifications
10.1016/j.cll.2023.06.004 · 2023 · External reference
Recent advances in genetic predisposition to pediatric acute lymphoblastic leukemia
10.1080/17474086.2020.1685866 · 2020 · External reference
Unresolved reference
2024 · External reference
Update on recommendations for surveillance for children with predisposition to hematopoietic malignancy
10.1158/1078-0432.ccr-24-0685 · 2024 · External reference
Recommendations for surveillance for children with leukemia-predisposing conditions
10.1158/1078-0432.ccr-17-0428 · 2017 · External reference
Insights into germline predisposition to pediatric lymphoid malignancies
10.1038/s41375-025-02750-z · 2025 · External reference
Unresolved reference
External reference
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome
10.1182/bloodadvances.2023009742 · 2023 · External reference
Fanconi anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML
10.18632/oncotarget.23328 · 2018 · External reference
Monosomy 7 in pediatric myelodysplastic syndromes
10.1016/j.hoc.2018.04.007 · 2018 · External reference
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
10.1016/s1470-2045(24)00026-3 · 2024 · External reference
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
10.1136/gutjnl-2017-314057 · 2018 · External reference
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
10.1038/s41436-019-0596-9 · 2020 · External reference
Frequency of pathogenic germline variants in cancer-susceptibility genes in the Childhood Cancer Survivor Study
10.1093/jncics/pkab007 · 2021 · External reference
A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS
10.1016/j.cancergen.2023.08.112 · 2023 · External reference
Heterozygous BRCA1 and BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer
10.1093/jnci/djac151 · 2022 · External reference
The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study
10.1038/bjc.2016.58 · 2016 · External reference
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia
10.1371/journal.pone.0221288 · 2019 · External reference
Association of germline BRCA2 mutations with the risk of pediatric or adolescent non-Hodgkin lymphoma
10.1001/jamaoncol.2019.2203 · 2019 · External reference
Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies
10.3324/haematol.2022.281580 · 2024 · External reference
BRCA1/2 mutations and de novo hematologic malignancies: true, true and not clearly related
10.3324/haematol.2023.283348 · 2024 · External reference
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants
10.1038/s41375-025-02635-1 · 2025 · External reference
Germline CHEK2 and ATM variants in myeloid and other hematopoietic malignancies
10.1007/s11899-022-00663-7 · 2022 · External reference
Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13
1995 · External reference
Fanconi anemia gene-associated germline predisposition in aplastic anemia and hematologic malignancies
10.1007/s11684-021-0841-x · 2022 · External reference
Risk of cancer in heterozygous relatives of patients with Fanconi anemia
10.1016/j.gim.2021.08.013 · 2022 · External reference
The challenge of genetic variants of uncertain clinical significance: a narrative review
10.7326/m21-4109 · 2022 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Outcomes of hematopoietic cell transplantation in patients with germline SAMD9/SAMD9L mutations
10.1016/j.bbmt.2019.07.007 · 2019 · External reference
Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype
10.1182/bloodadvances.2017012682 · 2018 · External reference
Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome
10.1016/j.bbmt.2020.04.029 · 2020 · External reference
Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances
10.1182/blood.2022017739 · 2023 · External reference
Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome
10.1038/s41409-021-01374-y · 2021 · External reference
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents
10.1182/blood-2015-09-669937 · 2016 · External reference
Comparison of outcomes of myeloablative allogeneic stem cell transplantation for pediatric patients with bone marrow failure, myelodysplastic syndrome and acute myeloid leukemia with and without germline GATA2 mutations
10.1016/j.bbmt.2020.02.015 · 2020 · External reference
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes
10.1182/blood.2022016508 · 2022 · External reference
Germline pathogenic variants in MUTYH are associated with inferior survival after hematopoietic cell transplantation in patients with hematologic malignancies or disorders
10.1002/ajh.70093 · 2025 · External reference
