Ample data indicate that mutant p53 proteins not only lose their tumour suppressive
functions, but also gain new abilities that promote tumorigenesis. Moreover, recent studies …

Recent evidence suggests that–in addition to 17p deletion–TP53 mutation is an
independent prognostic factor in chronic lymphocytic leukemia (CLL). Data from …

Epidemiological evidence suggests a relationship between chronic inflammation and lung
cancer. Inflammation in the lung may be modulated by host genetic factors such as …

MDS and AML are clonal hematopoietic stem cell disorders of increasing incidence, having
a variable prognosis based, among others, on co-occurring molecular abnormalities. TP53 …

PURPOSE: Retinitis pigmentosa (RP) causes hereditary blindness in adults (prevalence,
approximately 1 in 4000). Each of the more than 30 causative genes identified to date are …

Epithelial ovarian cancers (EOC) associated with germline or somatic BRCA pathogenetic
variants have a significantly higher rate of TP53aberrations. The majority of TP53 mutations …

To better understand the pathogenesis of nasal polyps (NPs) and sinonasal inverted
papillomas (SIPs), we aimed to establish cell lines from fresh tissues of NPs and SIPs and …

Chronic lymphocytic leukemia is the most common hematologic malignancy among adults in
Western countries. Several studies show that somatic mutations in the TP53 gene are …

Background: The p53 gene is the most frequently mutated gene in cancer and accordingly
has been the subject of intensive investigation for almost 30 years. Loss of p53 function due …

Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism that
is caused by mutations in the ATP7B gene. To date, more than 300 mutations have been …