Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland.

doi:10.4143/crt.2018.157

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Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland.

Cancer research and treatment - 1 Jan 2019

Dębniak Tadeusz, Scott Rodney J, Lea Rodney A, Górski Bohdan, Masojć Bartłomiej, Cybulski Cezary, Kram Andrzej, Maleszka Romuald, Gromowski Tomasz, Paszkowska-Szczur Katarzyna, Kashyap Aniruddh, Lener Marcin R, Malińska Karolina, Rogoża Emilia, Murawa Dawid, Rudnicka Helena, Deptuła Jakub, Lubiński Jan

Abstract excerpt

PURPOSE: Germline mutations within melanoma susceptibility genes are present only in minority of melanoma patients and it is expected that additional genes will be discovered with next generation sequence technology and whole-exome sequencing (WES). MATERIALS AND METHODS: Herein we performed WES on a cohort of 96 unrelated Polish patients with melanoma diagnosed under the age of 40 years who all screened negative...

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Identifiers

PMID: 29764119
DOI: 10.4143/crt.2018.157
PMCID: PMC6333986

Genes

CASC3
EXO5
STK33
VRK1
CABLES1
CARD6
CNDP2
CPNE1
DNAH14
EFCAB6
LEKR1
MYCT1
NUDT17
PRC1
RRP15
SAMD11
WWOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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