Simple Summary The journey of discovering melanoma—the most dangerous type of skin
cancer—biomarkers is never-ending. Under that assumption, this study attempts to partially …

Identifying genetic susceptibility factors for complex disorders remains a challenging task. To
analyze collections of small and large pedigrees where genetic heterogeneity is likely, but …

Crohn's disease (CD) is a chronic inflammatory autoimmune disease of unknown etiology.
To identify new targets related to the initiation of CD, we screened a pair of twins with CD …

Background Melanoma is the most lethal skin cancer, and its incidence has increased
worldwide. About 10% of cases are classified as hereditary melanoma (HM). CDKN2A and …

Increased genetic risk for melanoma can occur in the context of germline pathogenic
variants in high-penetrance genes, such as CDKN2A and CDK4, risk variants in low-to …

Accumulating evidence suggests that inherited melanoma is not rare and approx. one in
seven individuals with melanoma has clinically relevant hereditable cancer-predisposing …

Simple Summary This 5-year prospective single-center follow-up study of multiple primary
melanomas in two first-degree relatives with MC1R R/R genotype is an eye opener for the …

The pathogenesis of melanoma is influenced by a complex combination of environmental
factors and individual genetic susceptibility. Familial melanoma refers to cases where there …

Pyrroline-5-carboxylate reductase (PYCR) is a proline biosynthetic enzyme that catalyzes
the NAD (P) H-dependent reduction of Δ1-pyrroline-5-carboxylate (P5C) to proline. Humans …

Identifying genetic susceptibility factors for complex disorders remains a challenging task.
We have developed a weights-based pipeline to prioritize variants and genes in collections …