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. 2016 Mar 18;8(5):442–457. doi: 10.15252/emmm.201506055

Table 4.

Variants in the 3′‐UTR affecting polyadenylation

Gene Variant Mechanism Expression/effect on protein Cancer type Reference
CCND1 Several genomic deletions in 3′‐UTR (N/A) Premature polyadenylation Increase by enhanced stability of truncated mRNA (lacking AU‐rich elements, loss of miR‐BS) Mantle cell lymphoma (oncogenic risk) Wiestner et al (2007)
Small aberration within 3′‐UTR (320 bp from stop codon: single base insertion (A at position 1344), small deletion (3 bp at position 1,344–46), duplication in repetitive element in 3′‐UTR (N/A) Creation of APA signals
MSH6 Duplication of 20 bp close to the polyadenylation site (g) Decreased efficiency of polyadenylation Decrease Lynch syndrome Decorsiere et al (2012)
TP53 rs78378222 A/C (g: SNP) Change within polyadenylation signal Decrease Cutaneous basal cell carcinoma, prostate cancer, colorectal adenoma, glioma Stacey et al (2011)
PSMD8
TM9SF3
CD59
ANKH
CIAO1
SRSF5
MRSP16
NDUFA6
(N/A) APA
Differential usage of polyadenylation sites
Increase by enhanced stability of truncated mRNA due to miR‐BS loss Small intestinal neuroendocrine tumor Rehfeld et al (2014)

Mutational status as indicated in bold in brackets; s, somatic; g, germline; N/A, not available.

APA, alternative polyadenylation.