家族事务:剖析遗传因素对多发性骨髓瘤风险的影响。

IF 5 3区 医学 Q1 HEMATOLOGY
Saoirse Bodnar, Tehilla Brander, Julie Gold, Ayuko Iverson, Alessandro Lagana, Kenan Onel, Sundar Jagannath, Samir Parekh, Santiago Thibaud
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引用次数: 0

摘要

多发性骨髓瘤(MM)的病因学联系仍然知之甚少,尽管新出现的证据表明其具有重要的遗传成分。这篇综述整合了目前关于遗传因素导致MM风险的文献,综合了流行病学和基因组数据。我们研究了家族聚类模式,评估了揭示与MM相关的常见遗传变异的全基因组关联研究(GWAS),并探索了关键易感基因中罕见的高外显率变异。此外,我们提倡在高风险MM人群中进行常规生殖系筛查,特别是那些有强烈的癌症家族史、个人癌症史或早发性疾病的人群。通过阐明遗传因素对MM易感性的影响,本综述旨在为未来的研究提供信息,并完善该人群的风险评估策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
Seminars in hematology
Seminars in hematology 医学-血液学
CiteScore
6.20
自引率
2.80%
发文量
30
审稿时长
35 days
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.
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