Whole exome sequencing (WES) enables the analysis of all protein coding sequences in
the human genome. This technology enables the investigation of cancer-related genetic …

Cancer of unknown primary (CUP) presents a complex diagnostic challenge, characterized
by metastatic tumors of unknown tissue origin and a dismal prognosis. This review delves …

During life, the DNA of our cells is continuously exposed to external damaging processes.
Despite the activity of various repair mechanisms, DNA damage eventually results in the …

Background To shed light on the earliest events in oncogenesis, there is growing interest in
understanding the mutational landscapes of normal tissues across ages. In the last decade …

Homologous recombination repair (HRR) is the cellular mechanism for error-free repair of
double strand DNA (dsDNA) breaks. Cancer cells with mutations in both alleles of genes …

Objective Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and
in the base excision repair gene MUTYH underlie hereditary colorectal cancer (CRC) and …

In the recent years the rapid scientific innovation in the evaluation of the individual's genome
have allowed the identification of variants associated with the onset, treatment and …

Hereditary colorectal cancer (CRC) syndromes attributable to high penetrance mutations
represent 9–26% of young-onset CRC cases. The clinical significance of many of these …

Colorectal cancer, along with most other cancer types, is driven by somatic mutations.
Characteristic patterns of somatic mutations, known as mutational signatures, arise as a …

Background One of the most common sporadic homozygous deletions in cancers is 9p21
loss, which includes the genes methylthioadenosine phosphorylase (MTAP), CDKN2A, and …