Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.

doi:10.1097/CEJ.0000000000000633

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Article

Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) - 1 Nov 2020

Malińska Karolina, Deptuła Jakub, Rogoża-Janiszewska Emilia, Górski Bohdan, Scott Rodney, Rudnicka Helena, Kashyap Aniruddh, Domagała Paweł, Hybiak Jolanta, Masojć Bartłomiej, Cybulski Cezary, Kram Andrzej, Boer Magdalena, Kiedrowicz Magdalena, Lubiński Jan, Dębniak Tadeusz

Abstract excerpt

Evaluation of the prevalence of POT1, ACD, and TERF2IP mutations among Polish melanoma patients. A cohort of 60 patients from melanoma-prone families, 1500 unselected cases and 1500 controls were genotyped. Methodology included Sanger sequencing, in-silico software predilection, and TaqMan assays. We identified three nonsynonymous variants: POT1 c.903 G>T; TERF2IP c.970 A>G; and ACD c.1544 T>C and a splice site...

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PMID: 32976206
DOI: 10.1097/CEJ.0000000000000633

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