M. Spitz

Publications674
h-index107
Citations42,109
Highly Influential Citations1,497
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Somatic mutations affect key pathways in lung adenocarcinoma
TLDR
Somatic mutations in primary lung adenocarcinoma for several tumour suppressor genes involved in other cancers and for sequence changes in PTPRD as well as the frequently deleted gene LRP1B are found.
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1
TLDR
Two SNPs, rs1051730 and rs8034191, mapping to a region of strong linkage disequilibrium within 15q25.1 containing PSMA4 and the nicotinic acetylcholine receptor subunit genes CHRNA3 and CHRNA5, were significantly associated with risk in both replication sets.
Characterizing the cancer genome in lung adenocarcinoma
TLDR
A large-scale project to characterize copy-number alterations in primary lung adenocarcinomas using dense single nucleotide polymorphism arrays identifies NKX2-1 (NK2 homeobox 1, also called TITF1), which lies in the minimal 14q13.3 amplification interval and encodes a lineage-specific transcription factor, as a novel candidate proto-oncogene involved in a significant fraction of lung carcinomas.
Common 5p15.33 and 6p21.33 variants influence lung cancer risk
TLDR
A genome-wide association study of lung cancer comparing 511,919 SNP genotypes in 1,952 cases and 1,438 controls confirmed the most significant association was attained at 15q25.1 and identified two newly associated risk loci mapping to 6p21.33 and 5p15.33.
Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients.
TLDR
The results suggest that the two XPD polymorphisms have a modulating effect on DRC, especially in the cases, and the pattern was less evident among the controls, although there was a nonsignificant 41% increase in the risk of suboptimal DRC for controls who were homozygous at either locus.
Ethnic differences in the prevalence of the homozygous deleted genotype of glutathione S-transferase theta.
TLDR
The results indicate that there are major differences in the prevalence of this trait attributable to ethnicity and that ethnic origin even among Caucasians should be considered in studies of gene-environment interaction involving this polymorphism.
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
Plasma levels of insulin-like growth factor-I and lung cancer risk: a case-control analysis.
TLDR
If these findings can be confirmed in prospective studies, measuring levels of IGF-I and IGFBP-3 in blood may prove useful in assessing lung cancer risk.
Telomere dysfunction: a potential cancer predisposition factor.
TLDR
Telomere length was statistically significantly and inversely associated with baseline and mutagen-induced genetic instability and appears to be associated with increased risks for human bladder, head and neck, lung, and renal cell cancers.
Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD
TLDR
This study provides strong evidence that multiple statistically distinct loci in this region affect smoking behavior, and is the first report of association between rs588765 (and correlates) and smoking that achieves genome-wide significance.
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