Interplay between BRCA1 and GADD45A and its potential for nucleotide excision repair in breast cancer pathogenesis

S Pietrasik, G Zajac, J Morawiec, M Soszynski… - International journal of …, 2020 - mdpi.com
A fraction of breast cancer cases are associated with mutations in the BRCA1 (BRCA1 DNA
repair associated, breast cancer type 1 susceptibility protein) gene, whose mutated product …

Genomic characterization of rare primary cardiac sarcoma entities

L Gozzellino, M Nannini, C Pizzi, O Leone, B Corti… - Diagnostics, 2023 - mdpi.com
Primary cardiac sarcomas are considered rare malignant entities associated with poor
prognosis. In fact, knowledge regarding their gene signature and possible treatments is still …

[PDF][PDF] Comparative Panel Sequencing of DNA Variants in cf-, ev-and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients. Cancers 2022; 14: 1074

M Waldenmaier, L Schulte, J Schönfelder… - 2022 - pdfs.semanticscholar.org
Pancreatic ductal adenocarcinomas (PDACs) are tumors with poor prognosis and limited
treatment options. Personalized medicine aims at characterizing actionable DNA variants by …

Correlation of ERCC5 polymorphisms and linkage disequilibrium associated with overall survival and clinical outcome to chemotherapy in breast cancer

I Khan, N Masood, A Yasmin - Frontiers in Oncology, 2023 - frontiersin.org
Purpose ERCC5 is a DNA endonuclease and nucleotide excision repair gene; its mutations
lead to a lack of activity by this enzyme, causing oxidative DNA damage. This study aimed to …

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

P Le Van Quyen, N Calmels, M Bonnière… - American Journal of …, 2020 - Wiley Online Library
Cerebro‐oculo‐facio‐skeletal syndrome (COFS) is a rare autosomal recessive
neurodegenerative disease belonging to the family of DNA repair disorders, characterized …

Optimization of High Resolution Melting (HRM) Method for Genotyping and Estimating the Frequency of SNP rs751402 on ERCC5 Gene in Vietnamese Breast …

TTM Nguyen, LH Huynh, TTN Nguyen… - … Conference on the …, 2022 - Springer
Breast cancer (BC) is the leading cancer-causing death for women worldwide. Among BC-
causing genes, ERCC5 plays an important role in DNA damage repair. The cancer risk can …

Comparative panel sequencing of DNA variants in cf-, ev-and tumorDNA for pancreatic ductal adenocarcinoma patients

M Waldenmaier, L Schulte, J Schönfelder… - Cancers, 2022 - mdpi.com
Simple Summary Pancreatic ductal adenocarcinoma (PDAC) has still a dismal prognosis. To
improve treatment, personalized medicine uses next-generation DNA sequencing to monitor …

DGAT-onco: A powerful method to detect oncogenes by integrating differential mutational analysis and functional impacts of somatic mutations

H Zhang, J Wei, Z Liu, X Liu, Y Chong, Y Lu, H Zhao… - bioRxiv, 2020 - biorxiv.org
Motivation Oncogenes are genes whose malfunctions play critical roles in cancer
development, and their discovery is a major aim of cancer mechanisms study. By counting …