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Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

Cancer genetics - 1 Mar 2013

Ozola Aija, Azarjana Kristīne, Doniņa Simona, Proboka Guna, Mandrika Ilona, Petrovska Ramona, Cēma Ingrīda, Heisele Olita, Eņģele Ludmila, Streinerte Baiba, Pjanova Dace

Abstract excerpt

To evaluate the association of melanocortin 1 receptor gene (MC1R) variants with melanoma risk in a Latvian population, the MC1R gene was sequenced in 200 melanoma patients and 200 control persons. A functional study of previously uncharacterized, rare MC1R variants was also performed. In total, 26 different MC1R variants, including two novel variants Val165Ile and Val188Ile, were detected. The highest risk of...

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Identifiers

PMID: 23522749
DOI: 10.1016/j.cancergen.2013.01.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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