Kari Hemminki

TL;DR: Inherited genetic factors make a minor contribution to susceptibility to most types of neoplasms, which indicates that the environment has the principal role in causing sporadic cancer.

TL;DR: A melanoma-prone family through linkage analysis and high-throughput sequencing was investigated and a disease-segregating germline mutation in the promoter of the telomerase reverse transcriptase (TERT) gene, which encodes the catalytic subunit of telomersase, caused up to twofold increase in transcription.

TL;DR: Meta-analysis of two genome-wide association studies by genotyping 550K tagging SNPs shows that common low-penetrance susceptibility alleles contribute to the risk of developing glioma and provide insight into disease causation of this primary brain tumor.

TL;DR: The most commonly studied genotoxicity endpoints have been selected for inclusion in this document and they are structural and numerical chromosomal aberrations assessed using cytogenetic methods (classical chromosomal aberration analysis (CA), fluorescence in situ hybridisation (FISH), micronuclei (MN), DNA damage (adducts, strand breaks, crosslinking, alkali-labile sites) assessed using bio-chemical/electrophoretic assays or sister chromatid exchanges (SCE); protein adducts; and hypoxanthine-

TL;DR: It is found that rs401681[C] on chromosome 5p15 satisfied the threshold for genome-wide significance and seems to confer protection against cutaneous melanoma, and investigation of the region led to rs2736098[A], which showed stronger association with some cancer types, but neither variant could fully account for the association of the other.