Characterization of rare germline variants in familial multiple myeloma
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F21%3A10429249" target="_blank" >RIV/00216208:11140/21:10429249 - isvavai.cz</a>
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=OJCnJBKcxn" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=OJCnJBKcxn</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41408-021-00422-6" target="_blank" >10.1038/s41408-021-00422-6</a>
Alternative languages
Result language
angličtina
Original language name
Characterization of rare germline variants in familial multiple myeloma
Original language description
Multiple myeloma (MM) is a malignancy of plasma cells, characterized by the presence of monoclonal immunoglobulin, known as M protein1. MM is preceded by monoclonal gammopathy of undetermined significance (MGUS) which is also a precursor of immunoglobulin light chain (AL) amyloidosis. Previous studies have reported a 2- to 4-fold increased risk of MGUS or MM in first-degree relatives of MM or MGUS patients, suggesting the existence of inherited susceptibility. For many years, high-risk germline predisposing genes have been lacking for MM. However, recent sequencing efforts have proposed a few novel candidates, most notably loss-offunction (LoF) variants in the tumor suppressor gene DIS3 and in the histone demethylase gene KDM1A, and others as recently reviewed in detail in Pertesi et al. In addition to the suspected rare, high-penetrance variants, genome-wide association studies have identified over 20 common, low-penetrance variants associated with the risk of MM; these were estimated to account for about 15% of the familial MM risk.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology
Result continuities
Project
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Continuities
R - Projekt Ramcoveho programu EK
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Blood Cancer Journal
ISSN
2044-5385
e-ISSN
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Volume of the periodical
11
Issue of the periodical within the volume
2
Country of publishing house
GB - UNITED KINGDOM
Number of pages
4
Pages from-to
33
UT code for WoS article
000617807500001
EID of the result in the Scopus database
2-s2.0-85101443597