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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease xeroderma pigmentosum
Comorbidity C0025202|melanoma
Sentences 4
PubMedID- 23436679 We found that a significantly decreased risk of melanoma was associated with the xeroderma pigmentosum complementation (xpc) rs2228000_ct genotype (odds ratio [or] = 0.15; p < 0.001) and the rs2228000_tt genotype (or = 0.11; p < 0.001) compared to the reference genotype.
PubMedID- 25981029 melanoma in xeroderma pigmentosum type c children: overrepresentation of desmoplastic type.
PubMedID- 24112269 xeroderma pigmentosum with melanoma of face and its prosthetic management.
PubMedID- 22666269 The importance of dna repair in preventing the development of melanoma is illustrated in patients with xeroderma pigmentosum that have a defect in the nucleotide excision repair gene xpa and develop tumors with a high frequency on sun-exposed areas of the skin [99].

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