[HTML][HTML] Yeast-based assays for the functional characterization of cancer-associated variants of human DNA repair genes

T Cervelli, S Lodovichi, F Bellè, A Galli - Microbial Cell, 2020 - ncbi.nlm.nih.gov
Technological advances are continuously revealing new genetic variants that are often
difficult to interpret. As one of the most genetically tractable model organisms, yeast can …

New insights on familial colorectal cancer type X syndrome

FAO Garcia, ES de Andrade… - Scientific Reports, 2022 - nature.com
Familial colorectal cancer type X (FCCTX) is a heterogeneous colorectal cancer
predisposition syndrome that, although displays a cancer pattern similar to Lynch syndrome …

Genetic and epigenetic alterations in DNA repair genes and treatment outcome of Chemoradiotherapy in Cervical cancer

AS Kushwah, S Masood, R Mishra… - Critical Reviews in …, 2023 - Elsevier
Cervical cancer (CaCx) is the deadliest malignancy among women which is caused by
human papillomavirus (HPV) and anthro-demographical/clinicopathological factors. HPV …

Whole-exome sequencing identifies pathogenic germline variants in patients with Lynch-Like Syndrome

W Dos Santos, ES de Andrade, FAO Garcia… - Cancers, 2022 - mdpi.com
Simple Summary A significant proportion of families with a clinical suggestion of Lynch
syndrome and screened for the known MMR genes remain without a molecular diagnosis …

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

J Soukupova, P Zemankova, K Lhotova, M Janatova… - PloS one, 2018 - journals.plos.org
Background Carriers of mutations in hereditary cancer predisposition genes represent a
small but clinically important subgroup of oncology patients. The identification of causal …

Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer

R Das, S Kundu, S Laskar, Y Choudhury, SK Ghosh - DNA repair, 2018 - Elsevier
Head and neck cancer (HNC), the sixth most common cancer globally, stands second in
India. In Northeast (NE) India, it is the sixth most common cause of death in males and …

Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer …

L Maresca, S Lodovichi, A Lorenzoni, T Cervelli… - Frontiers in …, 2018 - frontiersin.org
In this study, we determined if BRCA1 partners involved in DNA double-strand break (DSB)
and mismatch repair (MMR) may contribute to breast and ovarian cancer development …

Predisposing deleterious variants in the cancer-associated human kinases in the global populations

SA Khan, M Anwar, A Gohar, MR Roosan, DC Hoessli… - Plos one, 2024 - journals.plos.org
Human kinases play essential and diverse roles in the cellular activities of maintaining
homeostasis and growth. Genetic mutations in the genes encoding the kinases (or …

In silico assessment of DNA damage response gene variants associated with head and neck cancer

R Das, S Kundu, S Laskar, Y Choudhury… - Journal of …, 2023 - Taylor & Francis
Head and neck cancer (HNC), the sixth most common cancer globally, stands first in India,
especially Northeast India, where tobacco usage is predominant, which introduces various …

Integration of Mutational Signature Analysis with 3D Chromatin Data Unveils Differential AID-Related Mutagenesis in Indolent Lymphomas

JH Sepulveda-Yanez, D Alvarez-Saravia… - International Journal of …, 2021 - mdpi.com
Activation-induced deaminase (AID) is required for somatic hypermutation in
immunoglobulin genes, but also induces off-target mutations. Follicular lymphoma (FL) and …