RNA Splicing: A New Player in the DNA Damage Response

Table 1

List of DDR-related genes found to be aberrantly spliced in several cancer types.

Gene	Function	Cancer	References
BRCA1	An E3 ubiquitin ligase contained in several cellular complexes, involved in DNA repair, genome stability maintenance, and cell cycle checkpoint control.	Breast and ovarian cancer	[62, 64–67]
BRCA2	Involved in HR, it associates with RAD51	Breast and ovarian cancer; Familial pancreatic cancer	[64, 67–70]
ATM	Apical kinase of DDR response, mainly involved in HR	Ataxia-telangiectasia*; Hereditary breast and ovarian cancer; Mantle cell lymphoma; Colon tumor derived cell lines; Leukemia-lymphoma-derived cell lines	[71–74]
MRE11	Component of DNA damage sensor complex MRN	Mismatch repair deficient colorectal cancer; Leukemia-lymphoma and colorectal cancer-derived cell lines	[73, 75]
ATR	Apical kinase of DDR response, mainly involved in HR	Seckel syndrome*; Hodgkin’s lymphoma; Breast and ovarian cancer	[76–79]
XPA	Nucleotide excision repair	Xeroderma pigmentosum*	[80]
DNAPK	Apical kinase of DDR response, mainly involved in NHEJ	Xeroderma pigmentosum*	[81]
MSH2 and MLH1	Mismatch repair	Hereditary nonpolyposis colorectal cancer	[82–84]
CHEK2	DNA damage checkpoint kinase	Breast cancer; Li-Fraumeni syndrome	[85, 86]

HR: homologous recombination; NHEJ: nonhomologous end joining. ∗ataxia-telangiectasia, xeroderma pigmentosum, and Seckel syndrome were included because they display strong predisposition to malignancies.