Diseases of Base Excision Repair

Stable Identifier
Homo sapiens
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Germline mutations, single nucleotide polymorphisms (SNPs) and somatic mutations in several genes involved in base excision repair (BER), a DNA repair pathway where a damaged DNA base is excised and replaced with a correct base, are involved in the development of cancer and several other oxidative stress-related diseases. For review, please refer to Fu et al. 2012, Fletcher and Houlston 2010, Brenerman et al. 2014, Patrono et al. 2014, and D'Errico et al. 2017.
Literature References
PubMed ID Title Journal Year
25355293 Base excision repair capacity in informing healthspan

Wilson, DM, Brenerman, BM, Illuzzi, JL

Carcinogenesis 2014
25493225 Polymorphisms in base excision repair genes: Breast cancer risk and individual radiosensitivity

Testa, A, Patrono, C, Sterpone, S, Cozzi, R

World J Clin Oncol 2014
20414203 Architecture of inherited susceptibility to common cancer

Houlston, RS, Fletcher, O

Nat. Rev. Cancer 2010
27932076 Single nucleotide polymorphisms in DNA glycosylases: From function to disease

Simonelli, V, Pascucci, B, Baccarini, S, Parlanti, E, Dogliotti, E, Fortini, P, D'Errico, M

Free Radic. Biol. Med. 2017
22237395 Balancing repair and tolerance of DNA damage caused by alkylating agents

Fu, D, Samson, LD, Calvo, JA

Nat. Rev. Cancer 2012
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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