[HTML][HTML] Comprehensive outline of whole exome sequencing data analysis tools available in clinical oncology
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 …
the human genome. This technology enables the investigation of cancer-related genetic …
The practical utility of AI-assisted molecular profiling in the diagnosis and management of cancer of unknown primary: an updated review
SW Lorkowski, JK Dermawan, BP Rubin - Virchows Archiv, 2024 - Springer
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 …
by metastatic tumors of unknown tissue origin and a dismal prognosis. This review delves …
[HTML][HTML] The mutagenic impact of environmental exposures in human cells and cancer: imprints through time
A Rosendahl Huber, A Van Hoeck… - Frontiers in …, 2021 - frontiersin.org
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 …
Despite the activity of various repair mechanisms, DNA damage eventually results in the …
Cells with cancer‐associated mutations overtake our tissues as we age
EJ Evans Jr, J DeGregori - Aging and cancer, 2021 - Wiley Online Library
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 …
understanding the mutational landscapes of normal tissues across ages. In the last decade …
Homologous recombination defects and mutations in DNA damage response (DDR) genes besides BRCA1 and BRCA2 as breast cancer biomarkers for PARP …
IA Voutsadakis, A Stravodimou - Anticancer Research, 2023 - ar.iiarjournals.org
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 …
double strand DNA (dsDNA) breaks. Cancer cells with mutations in both alleles of genes …
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers
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 base excision repair gene MUTYH underlie hereditary colorectal cancer (CRC) and …
Genetics and Genomics of Breast Cancer: update and translational perspectives
M Biancolella, B Testa, LB Salehi, MR D'Apice… - Seminars in cancer …, 2021 - Elsevier
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 …
have allowed the identification of variants associated with the onset, treatment and …
From APC to the genetics of hereditary and familial colon cancer syndromes
AP Olkinuora, PT Peltomäki, LA Aaltonen… - Human Molecular …, 2021 - academic.oup.com
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 …
represent 9–26% of young-onset CRC cases. The clinical significance of many of these …
Unraveling the genomic landscape of colorectal cancer through mutational signatures
M Díaz-Gay, LB Alexandrov - Advances in cancer research, 2021 - Elsevier
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 …
Characteristic patterns of somatic mutations, known as mutational signatures, arise as a …
Methylthioadenosine phosphorylase genomic loss in advanced gastrointestinal cancers
NYL Ngoi, TY Tang, CF Gaspar, DC Pavlick… - The …, 2024 - academic.oup.com
Background One of the most common sporadic homozygous deletions in cancers is 9p21
loss, which includes the genes methylthioadenosine phosphorylase (MTAP), CDKN2A, and …
loss, which includes the genes methylthioadenosine phosphorylase (MTAP), CDKN2A, and …