Publication Date
6-15-2021
Journal
Cancer Research
DOI
10.1158/0008-5472.CAN-20-3196
PMID
33853833
PMCID
PMC8409178
PubMedCentral® Posted Date
12-15-2021
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes
Keywords
Biomarkers, Tumor, Chromosome Mapping, Chromosomes, Human, Pair 6, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Haplotypes, Humans, Lod Score, Lung Neoplasms, Male, Pedigree, Prognosis, lung cancer, genetic linkage, family studies, targeted sequencing, 6q
Abstract
Although lung cancer is known to be caused by environmental factors, it has also been shown to have genetic components, and the genetic etiology of lung cancer remains understudied. We previously identified a lung cancer risk locus on 6q23-25 using microsatellite data in families with a history of lung cancer. To further elucidate that signal, we performed targeted sequencing on nine of our most strongly linked families. Two-point linkage analysis of the sequencing data revealed that the signal was heterogeneous and that different families likely had different risk variants. Three specific haplotypes were shared by some of the families: 6q25.3-26 in families 42 and 44, 6q25.2-25.3 in families 47 and 59, and 6q24.2-25.1 in families 30, 33, and 35. Region-based logarithm of the odds scores and expression data identified the likely candidate genes for each haplotype overlap:
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