Background: Cutaneous squamous cell carcinoma (cSCC) incidence continues to rise with
increasing morbidity and mortality, with limited treatment options for advanced disease …

It has been postulated that imprinting aberrations are common in tumors. To understand the
role of imprinting in cancer, we have characterized copy-number and methylation in over …

Noninvasive prenatal diagnosis (NIPD) of single-gene disorders has recently become the
focus of clinical laboratories. However, reports on the clinical application of NIPD of …

Intratumoural mutational heterogeneity (ITH) or the presence of different private mutations in
different parts of the same tumour is commonly observed in human tumours. The …

A number of bioinformatic or biostatistical methods are available for analyzing DNA copy
number profiles measured from microarray or sequencing technologies. In the absence of …

The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps
which can result in an extended time to diagnosis while depleting precious tumor …

Objectives: We aimed to study the potential clinical relevance of 9p allelic loss, with or
without copy number variation, in 1p/19q codeleted anaplastic oligodendroglial tumors …

Chromosomal instability (CIN) is classically defined as an increase in the rate at which
numerical or structural chromosomal aberrations are acquired in a cancer cell. The number …

Purpose The aim of this study was to identify the molecular genetic basis of cone-rod
dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the …

Gliosarcoma is a very rare brain tumor reported to be a variant of glioblastoma (GBM), IDH-
wildtype. While differences in molecular and histological features between gliosarcoma and …