RGD Reference Report - ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. - Rat Genome Database

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ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma.

Authors: Schrama, David  Scherer, Dominique  Schneider, Michael  Zapatka, Marc  Bröcker, Eva-Bettina  Schadendorf, Dirk  Ugurel, Selma  Kumar, Rajiv  Becker, Jürgen C 
Citation: Schrama D, etal., J Invest Dermatol. 2011 Jun;131(6):1280-90. doi: 10.1038/jid.2011.35. Epub 2011 Mar 10.
RGD ID: 12880434
Pubmed: PMID:21390047   (View Abstract at PubMed)
DOI: DOI:10.1038/jid.2011.35   (Journal Full-text)

Genetic variants in DNA repair enzymes contribute to the susceptibility to cutaneous melanoma; consequently, we analyzed whether common nonsynonymous single-nucleotide polymorphisms in DNA repair enzyme genes might also influence the course of disease. To this end, we determined eight polymorphisms of seven different DNA repair enzymes in 742 patients with cutaneous melanoma, and correlated these with overall survival. Univariate Cox proportional hazards model analyses revealed that ERCC5 (XPG) 1104 His/His was significantly associated with impaired survival. Indeed, the univariate hazard ratio (HR) was 2.8 times higher for patients with ERCC5 1104 His/His (P<0.001) compared with ERCC5 1104 Asp/Asp. Accordingly, the 5-year survival rate was 55% (95% confidence interval 43-71) for patients with ERCC5 1104 His/His, whereas 82% (95% confidence interval 78-86) of patients with ERCC5 1104 Asp/Asp were still alive at this time. Importantly, adjusted Cox regression analysis not only confirmed ERCC5 1104 His/His as an independent prognostic factor (multivariate HR=4.5; P<0.001), but also revealed the significant impact of ERCC2 (XPD) 751 Gln/Gln on prognosis, with a 2.2-fold increased HR compared with ERCC2 751 Lys/Lys (P=0.009). Thus, ERCC5 codon 1104 and ERCC2 codon 751 polymorphisms are independent prognostic factors in patients with cutaneous melanoma.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
melanoma disease_progressionIAGP 12880434DNA:polymorphism:exon:p.K751Q(human)RGD 
melanoma disease_progressionIAGP 12880434DNA:polymorphism:exon:p.D1104H(human)RGD 
melanoma disease_progressionISOERCC2 (Homo sapiens)12880434; 12880434DNA:polymorphism:exon:p.K751Q(human)RGD 
melanoma disease_progressionISOERCC5 (Homo sapiens)12880434; 12880434DNA:polymorphism:exon:p.D1104H(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ercc2  (ERCC excision repair 2, TFIIH core complex helicase subunit)
Ercc5  (ERCC excision repair 5, endonuclease)

Genes (Mus musculus)
Ercc2  (excision repair cross-complementing rodent repair deficiency, complementation group 2)
Ercc5  (excision repair cross-complementing rodent repair deficiency, complementation group 5)

Genes (Homo sapiens)
ERCC2  (ERCC excision repair 2, TFIIH core complex helicase subunit)
ERCC5  (ERCC excision repair 5, endonuclease)


Additional Information