Celia Badenas

TL;DR: A germline missense substitution in MITF (Mi-E318K) is identified that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls and provides insights into the link between SUMOylation, transcription and cancer.

TL;DR: This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available and there was little evidence for an association between CDKN2A mutations and NST, but there was a marginally significant association between NST and ARF.

TL;DR: In this article, the authors evaluated 398 fragile X syndrome (FXS) families in an attempt to provide an estimation of the premutation associated phenotypes penetrance, and the results showed that signs of FXTAS are detected in 16.5% of female premutation carriers and in 45% of premutated males older than 50 years.

TL;DR: A 16 base pair exon 1β germline insertion specifically altering p14ARF, but not p16INK4a, in an individual with multiple primary melanomas implicates a role for this tumour suppressor in melanoma predisposition.

TL;DR: It is proposed that ALAS2 gene mutations should be considered not only as causative of X-linked sideroblastic anemia (XLSA) and XLDPP but may also modulate gene function in other erythropoietic disorders.