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.