ERCC1
MIM.126380 19q13.2-q13.3 HGNC:3433 Entrez:2067 ENSG00000012061
Definition: The heterodimer ERCC1-XPF is one of two endonucleases required for NER.
Nucleotide excision repair (NER system) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne syndrome and trichothiodystrophy syndrome.
Pathology
Mutations in ERCC1 have been reported in (cerebrooculofacioskeletal syndrome 4) (cerebro-oculo-facio-skeletal syndrome 4) (COFS4). (#17273966#)
Mutations in XPF are associated with mild XP and rarely with progeria.
germline mutations in ERCC1
- cerebrooculofacioskeletal syndrome 4 (cerebro-oculo-facio-skeletal syndrome 4) (COFS4) (#17273966#)
ERCC1 expression in tumors
- ERCC1 (excision repair cross-complementing 1) expression in pT2 gallbladder cancer is a prognostic factor. (#21117025#).
- ERCC1 (excision repair cross-complementation group 1) expression is a predictor for response of neoadjuvant chemotherapy for FIGO stage 2B uterine cervix cancer. (#21093896#).
- Excision repair cross-complementation group 1 (ERCC1) expression in advanced urothelial carcinoma patients receiving cisplatin-based chemotherapy. (#21091775#).
- No evidence of an association of ERCC1 and ERCC2 polymorphisms with clinical outcomes of platinum-based chemotherapies in non-small cell lung cancer. (#21075476#).
- ERCC1 (excision repair cross-complementation group 1) expression as a predictor for response of neoadjuvant chemotherapy for FIGO stage 2B uterine cervix cancer. (#21093896#)
See also
ERCCs
excision repair
References
Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet. 2007 Mar;80(3):457-66. PMID: #17273966#