{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T13:16:49Z","timestamp":1771334209678,"version":"3.50.1"},"reference-count":83,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"National Cancer Institute of the National Institutes of Health","award":["F99CA234943"],"award-info":[{"award-number":["F99CA234943"]}]},{"name":"National Cancer Institute of the National Institutes of Health","award":["R21CA209533"],"award-info":[{"award-number":["R21CA209533"]}]},{"name":"National Cancer Institute of the National Institutes of Health","award":["R01CA167824"],"award-info":[{"award-number":["R01CA167824"]}]},{"DOI":"10.13039\/501100006364","name":"French National Cancer Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006364","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,6,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Inherited genetic risk factors play a role in multiple myeloma (MM), yet considerable missing heritability exists. Rare risk variants at genome-wide association study (GWAS) loci are a new avenue to explore. Pleiotropy between lymphoid neoplasms (LNs) has been suggested in family history and genetic studies, but no studies have interrogated sequencing for pleiotropic genes or rare risk variants. Sequencing genetically enriched cases can help discover rarer variants. We analyzed exome sequencing in familial or early-onset MM cases to identify rare, functionally relevant variants near GWAS loci for a range of LNs. A total of 149 distinct and significant LN GWAS loci have been published. We identified six recurrent, rare, potentially deleterious variants within 5\u00a0kb of significant GWAS single nucleotide polymorphisms in 75 MM cases. Mutations were observed in BTNL2, EOMES, TNFRSF13B, IRF8, ACOXL and TSPAN32. All six genes replicated in an independent set of 255 early-onset MM or familial MM or precursor cases. Expansion of our analyses to the full length of these six genes resulted in a list of 39 rare and deleterious variants, seven of which segregated in MM families. Three genes also had significant rare variant burden in 733 sporadic MM cases compared with 935 control individuals: IRF8 (P\u00a0=\u20091.0 \u00d7 10\u22126), EOMES (P\u00a0=\u20096.0 \u00d7 10\u22126) and BTNL2 (P\u00a0=\u20092.1 \u00d7 10\u22123). Together, our results implicate six genes in MM risk, provide support for genetic pleiotropy between LN subtypes and demonstrate the utility of sequencing genetically enriched cases to identify functionally relevant variants near GWAS loci.<\/jats:p>","DOI":"10.1093\/hmg\/ddab066","type":"journal-article","created":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T04:29:42Z","timestamp":1614659382000},"page":"1142-1153","source":"Crossref","is-referenced-by-count":7,"title":["Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes"],"prefix":"10.1093","volume":"30","author":[{"given":"Rosalie Griffin","family":"Waller","sequence":"first","affiliation":[{"name":"Department of Biomedical Informatics, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, Icahn Institute for Data Science and Genomic Technology, New York, NY 10029-5674, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Vijai","sequence":"additional","affiliation":[{"name":"Department of Medicine, Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA"},{"name":"Department of Medicine, Weill Cornell Medical College, New York, NY 10065, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James D","family":"McKay","sequence":"additional","affiliation":[{"name":"Genetic Cancer Susceptibility, International Agency for Research on Cancer, 69372 Lyon Cedex 08, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alyssa","family":"Clay-Gilmour","sequence":"additional","affiliation":[{"name":"Department of Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN 55905, USA"},{"name":"Department of Epidemiology & Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaomu","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Medicine, Weill Cornell Medical College, New York, NY 10065, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J","family":"Madsen","sequence":"additional","affiliation":[{"name":"Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas W","family":"Sborov","sequence":"additional","affiliation":[{"name":"Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Curtin","sequence":"additional","affiliation":[{"name":"Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan L","family":"Slager","sequence":"additional","affiliation":[{"name":"Department of Health Sciences, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55905, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Offit","sequence":"additional","affiliation":[{"name":"Department of Medicine, Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA"},{"name":"Department of Medicine, Weill Cornell Medical College, New York, NY 10065, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celine M","family":"Vachon","sequence":"additional","affiliation":[{"name":"Department of Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN 55905, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven M","family":"Lipkin","sequence":"additional","affiliation":[{"name":"Department of Medicine, Weill Cornell Medical College, New York, NY 10065, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Dumontet","sequence":"additional","affiliation":[{"name":"INSERM 1052, CNRS 5286, University of Lyon, 69361 Lyon Cedex 07, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola J","family":"Camp","sequence":"additional","affiliation":[{"name":"Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"key":"2021060909075089000_ref1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21660","article-title":"Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","author":"Sung","year":"2021","journal-title":"CA Cancer J. 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Genet."},{"key":"2021060909075089000_ref40","doi-asserted-by":"publisher","first-page":"14175","DOI":"10.1038\/ncomms14175","article-title":"Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia","volume":"8","author":"Law","year":"2017","journal-title":"Nat. Commun."},{"key":"2021060909075089000_ref41","doi-asserted-by":"crossref","first-page":"1911","DOI":"10.1182\/blood-2010-09-308205","article-title":"Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL","volume":"117","author":"Slager","year":"2011","journal-title":"Blood"},{"key":"2021060909075089000_ref42","doi-asserted-by":"publisher","first-page":"10933","DOI":"10.1038\/ncomms10933","article-title":"Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia","volume":"7","author":"Berndt","year":"2016","journal-title":"Nat. Commun."},{"key":"2021060909075089000_ref43","doi-asserted-by":"publisher","first-page":"2549","DOI":"10.1038\/ncomms3549","article-title":"Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin\u2019s lymphoma","volume":"4","author":"Frampton","year":"2013","journal-title":"Nat. Commun."},{"key":"2021060909075089000_ref44","doi-asserted-by":"publisher","first-page":"1892","DOI":"10.1038\/s41467-017-00320-1","article-title":"Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility","volume":"8","author":"Sud","year":"2017","journal-title":"Nat. Commun."},{"key":"2021060909075089000_ref45","doi-asserted-by":"publisher","first-page":"3856","DOI":"10.1038\/ncomms4856","article-title":"A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus","volume":"5","author":"Cozen","year":"2014","journal-title":"Nat. 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Genet."},{"key":"2021060909075089000_ref49","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.ajhg.2014.09.004","article-title":"Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region","volume":"95","author":"Skibola","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"2021060909075089000_ref50","doi-asserted-by":"publisher","first-page":"e1001378","DOI":"10.1371\/journal.pgen.1001378","article-title":"GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma","volume":"7","author":"Smedby","year":"2011","journal-title":"PLoS Genet."},{"key":"2021060909075089000_ref51","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1038\/ng.3105","article-title":"Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma","volume":"46","author":"Cerhan","year":"2014","journal-title":"Nat. Genet."},{"key":"2021060909075089000_ref52","doi-asserted-by":"publisher","first-page":"5751","DOI":"10.1038\/ncomms6751","article-title":"A genome-wide association study of marginal zone lymphoma shows association to the HLA region","volume":"6","author":"Vijai","year":"2015","journal-title":"Nat. Commun."},{"key":"2021060909075089000_ref53","doi-asserted-by":"publisher","first-page":"e1003220","DOI":"10.1371\/journal.pgen.1003220","article-title":"Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies","volume":"9","author":"Vijai","year":"2013","journal-title":"PLoS Genet."},{"key":"2021060909075089000_ref54","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1111\/bjh.12730","article-title":"Incidence of marginal zone lymphoma in the United States, 2001-2009 with a focus on primary anatomic site","volume":"165","author":"Khalil","year":"2014","journal-title":"Br. J. Haematol."},{"key":"2021060909075089000_ref55","doi-asserted-by":"crossref","first-page":"7354","DOI":"10.4049\/jimmunol.176.12.7354","article-title":"BTNL2, a butyrophilin-like molecule that functions to inhibit T cell activation","volume":"176","author":"Nguyen","year":"2006","journal-title":"J. Immunol."},{"key":"2021060909075089000_ref56","doi-asserted-by":"crossref","first-page":"3174","DOI":"10.4049\/jimmunol.1000749","article-title":"T-bet and eomesodermin are required for T cell-mediated antitumor immune responses","volume":"185","author":"Zhu","year":"2010","journal-title":"J. Immunol."},{"key":"2021060909075089000_ref57","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S1074-7613(01)00183-2","article-title":"TACI-Ig neutralizes molecules critical for B cell development and autoimmune disease","volume":"15","author":"Gross","year":"2001","journal-title":"Immunity"},{"key":"2021060909075089000_ref58","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/76889","article-title":"Identification of a receptor for BLyS demonstrates a crucial role in humoral immunity","volume":"1","author":"Yan","year":"2000","journal-title":"Nat. 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