Onco-Breastomics: An Eco-Evo-Devo Holistic Approach

AN Neagu, D Whitham, P Bruno, A Arshad… - International Journal of …, 2024 - mdpi.com
Known as a diverse collection of neoplastic diseases, breast cancer (BC) can be
hyperbolically characterized as a dynamic pseudo-organ, a living organism able to build a …

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history

B Zhao, J Li, S Sinha, Z Qin, SH Kou, F Xiao, H Lei… - BMC cancer, 2024 - Springer
Background Genome stability is maintained by the DNA damage repair (DDR) system
composed of multiple DNA repair pathways of hundreds of genes. Germline pathogenic …

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health

S Andaluz, B Zhao, S Sinha, PNP Lagniton, DA Costa… - BMC genomics, 2024 - Springer
Admixture occurs between different ethnic human populations. The global colonization in
recent centuries by Europeans led to the most significant admixture in human history. While …

Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method

B Tam, Z Qin, B Zhao, S Sinha, CL Lei… - International Journal of …, 2024 - mdpi.com
Pathogenic variation in DNA mismatch repair (MMR) gene MLH1 is associated with Lynch
syndrome (LS), an autosomal dominant hereditary cancer. Of the 3798 MLH1 germline …

[PDF][PDF] Multiple TP53 p. R337H haplotypes and implications for tumor susceptibility

EM Pinto, C Fridman, BC Figueiredo, H Salvador… - Human Genetics and …, 2024 - cell.com
The germline TP53 p. R337H mutation is reported as the most common germline TP53
variant. It exists at a remarkably high frequency in the population of southeast Brazil as …