Role of Pseudoexons and Pseudointrons in Human Cancer

Table 2

Pseudoexon insertion events directly involved in cancer pathology.

Gene name	Description	Entrez gene	Size (bp) pseudoexon	Activating mutation	Reference
APC	Adenomatosis polyposis coli	324	167	5′ss creation	[78]
ATM	Ataxia telangiectasia mutated	470	58	3′ss creation	[79]
ATM			65	SRE deletion	[80]
ATM			137	5′ss creation	[81]
ATM			212	5′ss creation	[82]
BCR-ABL	Breakpoint cluster region; V-abl Abelson murine leukemia viral oncogene homolog 1 fusion	613; 25	42	Genomic rearrangement	[83]
BCR-ABL			35	Unknown	[84, 85]
BRCA1	Breast cancer 1, early onset	672	66	3′ss creation	[86]
BRCA2	Breast cancer 2, early onset	675	93	Downstream 3′ss deletion	[87]
BRCA2			95	5′ss creation	[88]
ESR1	Estrogen receptor 1	3467	69	5′ss creation	[89]
MSH2	MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	4436	75	5'ss creation	[90]
NF1	Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	4763	67/99	3′ss creation	[91]
NF1			70	5′ss creation	[92]
NF1			107	5′ss creation	[92]
NF1			172	3′ss creation	[93]
NF1			58	3′ss creation	[94]
NF1			76	5′ss creation	[94]
NF1			54	5′ss creation	[95]
NF1			177	5′ss creation	[92, 96, 97]
NF2	Neurofibromin 2 (bilateral acoustic neuroma)	4771	106	BP creation	[98]
RB1	Retinoblastoma 1 (including osteosarcoma)	5925	103	3′ss creation	[99]
TSC2	Tuberous sclerosis 2	7249	89	5′ss creation	[100]
WRN	Werner syndrome	7486	106	5′ss creation	[101]
WRN			69	3′ss creation	[102]