ArticleFrontiers in bioengineering and biotechnology2020
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing.
Article in Frontiers in bioengineering and biotechnology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Whole Exome Sequencing IdentifiesInternational journal of molecular sciences · 2021Trial
- Liquid Biopsy in Hematologic Malignancies: Advances, Challenges, and Future Directions.Asia-Pacific journal of clinical oncology · 2026Review
- Familial lymphoma and genetic predisposition: an updated review.BMC medical genomics · 2026Review
- Expression Profile and Prognostic Significance of Pivotal Regulators for N7-Methylguanosine Methylation in Diffuse Large B-Cell Lymphoma.Molecular biotechnology · 2025Article
- Article
- A significant proportion of classic Hodgkin lymphoma recurrences represents clonally unrelated second primary lymphoma.Blood advances · 2023Article
- Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.Blood · 2023Article
- Genetic lesions and targeted therapy in Hodgkin lymphoma.Therapeutic advances in hematology · 2023Review
- Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.Molecular genetics and genomics : MGG · 2022Article
- Germline Variants ofCancers · 2022Article
- Article
- Clinical and Prognostic Pan-Cancer Analysis of N6-Methyladenosine Regulators in Two Types of Hematological Malignancies: A Retrospective Study Based on TCGA and GTEx Databases.Frontiers in oncology · 2021Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hodgkin lymphoma (HL) is a lymphoproliferative malignancy of B-cell origin that accounts for 10% of all lymphomas. Despite evidence suggesting strong familial clustering of HL, there is no clear understanding of the contribution of genes predisposing to HL. In this study, whole genome sequencing (WGS) was performed on 7 affected and 9 unaffected family members from three HL-prone families and variants were prioritized using our Familial Cancer Variant Prioritization Pipeline (FCVPPv2). WGS identified a total of 98,564, 170,550, and 113,654 variants which were reduced by pedigree-based filtering to 18,158, 465, and 26,465 in families I, II, and III, respectively. In addition to variants affecting amino acid sequences, variants in promoters, enhancers, transcription factors binding sites, and microRNA seed sequences were identified from upstream, downstream, 5' and 3' untranslated regions. A panel of 565 cancer predisposing and other cancer-related genes and of 2,383 potential candidate HL genes were also screened in these families to aid further prioritization. Pathway analysis of segregating genes with Combined Annotation Dependent Depletion Tool (CADD) scores >20 was performed using Ingenuity Pathway Analysis software which implicated several candidate genes in pathways involved in B-cell activation and proliferation and in the network of "Cancer, Hematological disease and Immunological Disease." We used the FCVPPv2 for further
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