RGD Reference Report - Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. - Rat Genome Database

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Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival.

Authors: Yin, J  Liu, H  Liu, Z  Wang, LE  Chen, WV  Zhu, D  Amos, CI  Fang, S  Lee, JE  Wei, Q 
Citation: Yin J, etal., J Invest Dermatol. 2015 Feb;135(2):542-50. doi: 10.1038/jid.2014.416. Epub 2014 Sep 22.
RGD ID: 11344896
Pubmed: PMID:25243787   (View Abstract at PubMed)
PMCID: PMC4289462   (View Article at PubMed Central)
DOI: DOI:10.1038/jid.2014.416   (Journal Full-text)

Cutaneous melanoma (CM) is the most lethal skin cancer. The Fanconi anemia (FA) pathway involved in DNA crosslink repair may affect CM susceptibility and prognosis. Using data derived from published genome-wide association study, we comprehensively analyzed the associations of 2,339 common single-nucleotide polymorphisms (SNPs) in 14 autosomal FA genes with overall survival (OS) in 858 CM patients. By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). Moreover, patients with an increasing number of unfavorable genotypes (NUG) of these loci had markedly reduced OS and melanoma-specific survival (MSS). The final model incorporating with NUG, tumor stage, and Breslow thickness showed an improved discriminatory ability to classify both 5-year OS and 5-year MSS. Additional investigations, preferably prospective studies, are needed to validate our findings.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
skin melanoma disease_progressionIAGP 11344896DNA:SNP: :rs206118 more ...RGD 
skin melanoma disease_progressionISOBRCA2 (Homo sapiens)11344896; 11344896DNA:SNP: :rs206118 more ...RGD 
skin melanoma disease_progressionIAGP 11344896DNA:SNP: :rs62068372 (human)RGD 
skin melanoma disease_progressionISOFANCA (Homo sapiens)11344896; 11344896DNA:SNP: :rs62068372 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Brca2  (BRCA2, DNA repair associated)
Fanca  (FA complementation group A)

Genes (Mus musculus)
Brca2  (breast cancer 2, early onset)
Fanca  (Fanconi anemia, complementation group A)

Genes (Homo sapiens)
BRCA2  (BRCA2 DNA repair associated)
FANCA  (FA complementation group A)


Additional Information