Alisa M. Goldstein

TL;DR: It is concluded that splice site mutations do predispose to disease in a subset of melanoma-prone kindreds, and characterization of additional spliced site variants and other noncoding alterations of CDKN2A should allow us to detect a wider range of mutations in at-risk patients.

TL;DR: This study further quantifies the degree of population-specific genetic variation and suggests that positive selection may be present in European populations in MC1R.

TL;DR: Although the efficiency of counter-matching is greatest when the risk factors are very rare, the study of such rare factors is not realistic unless one is interested in very strong interaction effects, and counter- matching appears to be more appropriate than most traditional epidemiologic methods for theStudy of interactions involving rare factors.

TL;DR: This study suggests that most of the SNPs significantly associated with NPC from GWAS reflect previously identified HLA-A associations.

TL;DR: The importance of considering NBCCS in the differential diagnosis of any patient who presents with a medulloblastoma, especially before the age of 5 years, and of examining other close relatives for signs of NBCCS to determine the patient's at-risk status, are shown.