{"title":"家族事务:剖析遗传因素对多发性骨髓瘤风险的影响。","authors":"Saoirse Bodnar, Tehilla Brander, Julie Gold, Ayuko Iverson, Alessandro Lagana, Kenan Onel, Sundar Jagannath, Samir Parekh, Santiago Thibaud","doi":"10.1053/j.seminhematol.2024.11.006","DOIUrl":null,"url":null,"abstract":"<p><p>Etiological links to multiple myeloma (MM) remain poorly understood, though emerging evidence suggests a significant hereditary component. This review integrates current literature on inherited factors contributing to MM risk, synthesizing both epidemiologic and genomic data. We examine familial clustering patterns, assess genome-wide association studies (GWAS) that reveal common genetic variants linked to MM, and explore rare, high-penetrance variants in key susceptibility genes. Additionally, we advocate for routine germline screening in high-risk MM populations, particularly those with a strong family history of cancer, a personal history of cancer, or early-onset disease. By elucidating the inherited influences on MM predisposition, this review seeks to inform future research and refine risk assessment strategies in this population.</p>","PeriodicalId":21684,"journal":{"name":"Seminars in hematology","volume":" ","pages":""},"PeriodicalIF":5.0000,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"FaMMily Affairs: Dissecting inherited contributions to multiple myeloma risk.\",\"authors\":\"Saoirse Bodnar, Tehilla Brander, Julie Gold, Ayuko Iverson, Alessandro Lagana, Kenan Onel, Sundar Jagannath, Samir Parekh, Santiago Thibaud\",\"doi\":\"10.1053/j.seminhematol.2024.11.006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Etiological links to multiple myeloma (MM) remain poorly understood, though emerging evidence suggests a significant hereditary component. This review integrates current literature on inherited factors contributing to MM risk, synthesizing both epidemiologic and genomic data. We examine familial clustering patterns, assess genome-wide association studies (GWAS) that reveal common genetic variants linked to MM, and explore rare, high-penetrance variants in key susceptibility genes. Additionally, we advocate for routine germline screening in high-risk MM populations, particularly those with a strong family history of cancer, a personal history of cancer, or early-onset disease. By elucidating the inherited influences on MM predisposition, this review seeks to inform future research and refine risk assessment strategies in this population.</p>\",\"PeriodicalId\":21684,\"journal\":{\"name\":\"Seminars in hematology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":5.0000,\"publicationDate\":\"2024-11-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Seminars in hematology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1053/j.seminhematol.2024.11.006\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in hematology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1053/j.seminhematol.2024.11.006","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"HEMATOLOGY","Score":null,"Total":0}
FaMMily Affairs: Dissecting inherited contributions to multiple myeloma risk.
Etiological links to multiple myeloma (MM) remain poorly understood, though emerging evidence suggests a significant hereditary component. This review integrates current literature on inherited factors contributing to MM risk, synthesizing both epidemiologic and genomic data. We examine familial clustering patterns, assess genome-wide association studies (GWAS) that reveal common genetic variants linked to MM, and explore rare, high-penetrance variants in key susceptibility genes. Additionally, we advocate for routine germline screening in high-risk MM populations, particularly those with a strong family history of cancer, a personal history of cancer, or early-onset disease. By elucidating the inherited influences on MM predisposition, this review seeks to inform future research and refine risk assessment strategies in this population.
期刊介绍:
Seminars in Hematology aims to present subjects of current importance in clinical hematology, including related areas of oncology, hematopathology, and blood banking. The journal''s unique issue structure allows for a multi-faceted overview of a single topic via a curated selection of review articles, while also offering a variety of articles that present dynamic and front-line material immediately influencing the field. Seminars in Hematology is devoted to making the important and current work accessible, comprehensible, and valuable to the practicing physician, young investigator, clinical practitioners, and internists/paediatricians with strong interests in blood diseases. Seminars in Hematology publishes original research, reviews, short communications and mini- reviews.