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TERT Promoter Mutations in Familial and Sporadic Melanoma
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.
Highly Recurrent TERT Promoter Mutations in Human Melanoma
Genome-wide association study identifies five susceptibility loci for glioma
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.
Incidence trends and risk factors of carcinoid tumors
Carcinoids are rare indolent neuroendocrine tumors, mainly located in bowel, stomach, and lung. Their etiology is virtually unknown although a family history is a minor cause.
TERT promoter mutations in cancer development.
Single nucleotide polymorphisms in breast cancer.
It is concluded that within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD, are associated withBC.
Evaluation of SNPs in miR‐146a, miR196a2 and miR‐499 as low‐penetrance alleles in German and Italian familial breast cancer cases
The data suggested lack of association between SNPs rs2910164, rs11614913 and rs3746444 and breast cancer risk, or age at breast cancer onset.
Polymorphisms in DNA repair and metabolic genes in bladder cancer.
We investigated the association of urinary bladder cancer with genetic polymorphisms in the xeroderma pigmentosum complementation group C (XPC), group D (XPD) and group G (XPG), X-ray repair…
Vascular Endothelial Growth Factor Polymorphisms in Relation to Breast Cancer Development and Prognosis
Although none of the polymorphisms studied in the V EGF gene was found to influence susceptibility to breast cancer significantly, some of the VEGF genotypes and haplotypes may influence tumor growth through an altered expression of VEGf and tumor angiogenesis.
Modification of cancer risks in offspring by sibling and parental cancers from 2,112,616 nuclear families
It is suggested that low‐penetrance polygenic dominant effects or dominant genes of high penetrance but low mutant allele frequency in the population may be involved in the observed familial cancers at many sites, particularly to gastric, renal, non‐thyroid endocrine, bladder, colon, testicular and prostate cancers and leukemia.