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Page 66 Sadaf et al. J Transl Genet Genom 2022;6:63-83 https://dx.doi.org/10.20517/jtgg.2021.36
Table 1. Susceptible loci for multiple myeloma
Study Locus Candidate gene
Broderick et al. [21] , 2012 2p23.3 DNMT3A
[24]
Martino et al. , 2012 3p22 ULK4
7p15.3 CDCA7L
[22]
Koura et al. , 2013 2p23.3 DNMT3A
3p22.1 ULK4
7p15.3 CDCA7L
8q24 MYC
Chubb et al. [23] , 2013 3q26.2 TERC
6p21.3 PSORS1C2
17p11.2 TNFRSF13B
22q13.1 APOBEC
Weinhold et al. [25] , 2014 2p23.3 DNMT3A
3p22.1 ULK4
3q26.2 TERC
6p21.3 PSORS1C2
7p15.3 CDCA7L
17p11.2 TNFRSF13B
22q13.1 APOBEC
Ziv et al. [26] , 2015 16p13 FOPNL
[27]
Mitchell et al. , 2016 5q15 ELL2
6p22.3 JARID2
6q21.3 ATG5
7q36.1 SMARCD3
8q24.1 CCAT1
9p21.3 MTAP
16q23.1 RFWD3
20q13.1 PREX1
[28]
Went et al. , 2018 2q31.1 SP3
5q23.2 CEP120
7q22.3 CCDC71L
7q31.33 POT1
16p11.2 PRR14
19p13.11 KLF2
22q13.1 CBX7
[29]
Duran-Lozanzo et al. , 2021 13q13.3 SOHLH2
via unknown mechanisms . Notwithstanding t(4;14) being associated with a poor prognosis of MM,
[12]
treatment of MM with bortezomib, a proteasome inhibitor (PI), results in an increased survival rate in these
patients .
[45]
Translocation (6;14) (p21;q32)
[1]
The translocation t(6;14) is rare and is present in only 2% of MM patients . It has a neutral prognosis. This
translocation causes the juxtaposition of CCND3 to the IGH enhancers, thus directly up-regulating CCND3
expression .
[46]
Translocation (11;14) (q13;32)
The translocation t(11;14) is the most frequent translocation present in MM (15%-20% patients) . It has a
[1]
neutral prognosis, although t(11;14) patients show significant heterogeneity and may present as PCL . This
[14]
translocation up-regulates a cyclin D gene in the CCND1 form. Gene studies demonstrated that the over-
expression of CCND1 and CCND3 results in the deregulation of common downstream transcriptional
events . The central role of cyclin D gene deregulation in MM provided insight into research on cyclin D
[47]
[48]
inhibitors in vitro. Human trials on cyclin D inhibition therapy for MM are also under consideration .
