POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East

AK Siraj, R Bu, K Iqbal… - … Genetics & Genomic …, 2020 - Wiley Online Library
Background Colorectal cancer (CRC) is a major contributor to morbidity and mortality related
to cancer. Only~ 5% of all CRCs occur as a result of pathogenic variants in well‐defined …

[HTML][HTML] Advances in identification of susceptibility gene defects of hereditary colorectal cancer

Q Liu, YQ Tan - Journal of Cancer, 2019 - ncbi.nlm.nih.gov
Colorectal cancer (CRC) is a common malignant tumor of the digestive system worldwide,
associated with hereditary genetic features. CRC with a Mendelian genetic predisposition …

Extended family with germline pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading inactivation

MA Andrianova, VB Seplyarskiy, M Terradas… - bioRxiv, 2022 - biorxiv.org
Mutational processes in germline and in somatic cells are vastly different, and it remains
unclear how the same genetic background affects somatic and transmissible mutations …

Molecular diagnostics for precision medicine in colorectal cancer: current status and future perspective

G Chen, Z Yang, JR Eshleman… - BioMed research …, 2016 - Wiley Online Library
Precision medicine, a concept that has recently emerged and has been widely discussed,
emphasizes tailoring medical care to individuals largely based on information acquired from …

Exploring the molecular mechanism of the drug-treated breast cancer based on gene expression microarray

AM Alshabi, B Vastrad, IA Shaikh, C Vastrad - Biomolecules, 2019 - mdpi.com
Breast cancer (BRCA) remains the leading cause of cancer morbidity and mortality
worldwide. In the present study, we identified novel biomarkers expressed during estradiol …

Identifying Lynch syndrome in women presenting with endometrial carcinoma under the age of 50 years

A Anagnostopoulos, VH McKay, I Cooper… - International Journal of …, 2017 - ijgc.bmj.com
Background Lynch syndrome (LS) is an inherited disorder associated with genetic
predisposition to endometrial, colorectal, ovarian, and other cancers. There is consensus for …

ShRNA-based POLD2 expression knockdown sensitizes glioblastoma to DNA-Damaging therapeutics

Q Xu, C Hu, Y Zhu, K Wang, B Lal, L Li, J Tang, S Wei… - Cancer letters, 2020 - Elsevier
Glioblastoma (GBM) has limited therapeutic options. DNA repair mechanisms contribute
GBM cells to escape therapies and re-establish tumor growth. Multiple studies have shown …

Somatic Mutations in Catalytic Core of POLK Reported in Prostate Cancer Alter Translesion DNA Synthesis

S Yadav, S Mukhopadhyay, M Anbalagan… - Human …, 2015 - Wiley Online Library
ABSTRACT DNA polymerase kappa is a Y‐family polymerase that participates to bypass the
damaged DNA known as translesion synthesis (TLS) polymerase. Higher frequency of …

Molecular basis of mismatch repair protein deficiency in tumors from Lynch suspected cases with negative germline test results

A Olkinuora, A Gylling, H Almusa, S Eldfors, A Lepistö… - Cancers, 2020 - mdpi.com
Some 10–50% of Lynch-suspected cases with abnormal immunohistochemical (IHC)
staining remain without any identifiable germline mutation of DNA mismatch repair (MMR) …

Current applications of molecular pathology in colorectal carcinoma

RS Gonzalez, K Washington, C Shi - Applied Cancer Research, 2017 - Springer
Molecular pathology is playing an increasingly important role in the treatment and overall
management of patients with colorectal carcinoma. Three distinct genetic pathways have …