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Association between HRAS rs12628 and rs112587690 polymorphisms with the risk of melanoma in the North American population

Please always quote using this URN: urn:nbn:de:bvb:20-opus-126834
  • HRAS belongs to the RAS genes superfamily. RAS genes are important players in several human tumors and the single-nucleotide polymorphism rs12628 has been shown to contribute to the risk of bladder, colon, gastrointestinal, oral, and thyroid carcinoma. We hypothesized that this SNP may affect the risk of cutaneous melanoma as well. HRAS gene contains a polymorphic region (rs112587690), a repeated hexanucleotide -GGGCCT- located in intron 1. Three alleles of this region, P1, P2, and P3, have been identified that contain two, three, and fourHRAS belongs to the RAS genes superfamily. RAS genes are important players in several human tumors and the single-nucleotide polymorphism rs12628 has been shown to contribute to the risk of bladder, colon, gastrointestinal, oral, and thyroid carcinoma. We hypothesized that this SNP may affect the risk of cutaneous melanoma as well. HRAS gene contains a polymorphic region (rs112587690), a repeated hexanucleotide -GGGCCT- located in intron 1. Three alleles of this region, P1, P2, and P3, have been identified that contain two, three, and four repeats of the hexanucleotide, respectively. We investigated the clinical impact of these polymorphisms in a case–control study. A total of 141 melanoma patients and 118 healthy donors from the North America Caucasian population were screened for rs12628 and rs112587690 polymorphisms. Genotypes were assessed by capillary sequencing or fragment analysis, respectively, and rs12628 CC and rs112587690 P1P1 genotypes significantly associated with increased melanoma risk (OR = 3.83, p = 0.003; OR = 11.3, p = 0.033, respectively), while rs112587690 P1P3 frequency resulted significantly higher in the control group (OR = 0.5, p = 0.017). These results suggest that rs12628 C homozygosis may be considered a potential risk factor for melanoma development in the North American population possibly through the linkage to rs112587690.show moreshow less

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Metadaten
Author: Sara Tomei, Sharon Adams, Lorenzo Uccellini, Davide Bedognetti, Valeria De Giorgi, Narnygerel Erdenebileg, Maria Libera Ascierto, Jennifer Reinboth, Qiuzhen Liu, Generoso Bevilacqua, Ena Wang, Chiara Mazzanti, Francesco M. Marincola
URN:urn:nbn:de:bvb:20-opus-126834
Document Type:Journal article
Faculties:Fakultät für Biologie / Theodor-Boveri-Institut für Biowissenschaften
Fakultät für Chemie und Pharmazie / Lehrstuhl für Biochemie
Language:English
Parent Title (English):Medical Oncology
Year of Completion:2012
Volume:29
Issue:5
Pagenumber:3456-3461
Source:Medical Oncology (2012) 29:3456–3461 DOI 10.1007/s12032-012-0255-3
DOI:https://doi.org/dx.doi.org/10.1007/s12032-012-0255-3
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Tag:HRAS; melanoma; polymorphism; rs112587690; rs12628
Release Date:2016/07/11
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung