ArticlePLoS genetics2018
Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 44 citations in OpenAlex.
- Signals in Peripheral Blood: Tracking Redox Status and DNA Damage Response During the Progression of Multiple Myeloma.International journal of molecular sciences · 2026Article
- Multiple myeloma risk linked to DNA damage response genes.Journal of hematology & oncology · 2026Article
- Article
- Mapping genetic susceptibility to spontaneous preterm birth: analysis of Utah pedigrees to find inherited genetic factors.American journal of obstetrics and gynecology · 2025Article
- FaMMily Affairs: Dissecting inherited contributions to multiple myeloma risk.Seminars in hematology · 2025Review
- Germline predisposition in multiple myeloma.iScience · 2025Article
- Liquid Biopsies as Non-Invasive Tools for Mutation Profiling in Multiple Myeloma: Application Potential, Challenges, and Opportunities.International journal of molecular sciences · 2024Review
- NTHL1 is a recessive cancer susceptibility gene.Scientific reports · 2023Article
- Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics.NPJ precision oncology · 2023Article
- Article
- A germline exome analysis reveals harmfulEJHaem · 2022Article
- Epidemiology, genetics and treatment of multiple myeloma and precursor diseases.International journal of cancer · 2021Review
- Review
- Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.Human molecular genetics · 2021Article
- Characterization of rare germline variants in familial multiple myeloma.Blood cancer journal · 2021Article
- Duo Shared Genomic Segment analysis identifies a genome-wide significant risk locus at 18q21.33 in myeloma pedigrees.Journal of translational genetics and genomics · 2021Article
- Shared genomic segment analysis in a large high-risk chronic lymphocytic leukemia pedigree implicatesJournal of translational genetics and genomics · 2021Article
- A Journey Through Myeloma Evolution: From the Normal Plasma Cell to Disease Complexity.HemaSphere · 2020Review
- Coinherited genetics of multiple myeloma and its precursor, monoclonal gammopathy of undetermined significance.Blood advances · 2020Article
- Family Study Designs Informed by Tumor Heterogeneity and Multi-Cancer Pleiotropies: The Power of the Utah Population Database.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Article
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Authors and funding
26 authors at 7 institutions in 2 countries.
Funding
Abstract
The high-risk pedigree (HRP) design is an established strategy to discover rare, highly-penetrant, Mendelian-like causal variants. Its success, however, in complex traits has been modest, largely due to challenges of genetic heterogeneity and complex inheritance models. We describe a HRP strategy that addresses intra-familial heterogeneity, and identifies inherited segments important for mapping regulatory risk. We apply this new Shared Genomic Segment (SGS) method in 11 extended, Utah, multiple myeloma (MM) HRPs, and subsequent exome sequencing in SGS regions of interest in 1063 MM / MGUS (monoclonal gammopathy of undetermined significance-a precursor to MM) cases and 964 controls from a jointly-called collaborative resource, including cases from the initial 11 HRPs. One genome-wide significant 1.8 Mb shared segment was found at 6q16. Exome sequencing in this region revealed predicted deleterious variants in USP45 (p.Gln691* and p.Gln621Glu), a gene known to influence DNA repair through endonuclease regulation. Additionally, a 1.2 Mb segment at 1p36.11 is inherited in two Utah HRPs, with coding variants identified in ARID1A (p.Ser90Gly and p.Met890Val), a key gene in the SWI/SNF chromatin remodeling complex. Our results provide compelling statistical and genetic evidence for segregating risk variants for MM. In addition, we demonstrate a novel strategy to use large HRPs for risk-variant discovery more generally in complex traits.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.