Cancer driver mutations: predictions and reality

D Ostroverkhova, TM Przytycka… - Trends in Molecular …, 2023 - cell.com
Cancer cells accumulate many genetic alterations throughout their lifetime, but only a few of
them drive cancer progression, termed driver mutations. Driver mutations may vary between …

Molecular mechanisms of disease-causing missense mutations

S Stefl, H Nishi, M Petukh, AR Panchenko… - Journal of molecular …, 2013 - Elsevier
Genetic variations resulting in a change of amino acid sequence can have a dramatic effect
on stability, hydrogen bond network, conformational dynamics, activity and many other …

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

L Gerasimavicius, BJ Livesey, JA Marsh - Nature communications, 2022 - nature.com
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …

MutaBind2: predicting the impacts of single and multiple mutations on protein-protein interactions

N Zhang, Y Chen, H Lu, F Zhao, RV Alvarez… - Iscience, 2020 - cell.com
Missense mutations may affect proteostasis by destabilizing or over-stabilizing protein
complexes and changing the pathway flux. Predicting the effects of stabilizing mutations on …

Comprehensive assessment of cancer missense mutation clustering in protein structures

A Kamburov, MS Lawrence, P Polak… - Proceedings of the …, 2015 - National Acad Sciences
Large-scale tumor sequencing projects enabled the identification of many new cancer gene
candidates through computational approaches. Here, we describe a general method to …

Structural and physico-chemical effects of disease and non-disease nsSNPs on proteins

TG Kucukkal, M Petukh, L Li, E Alexov - Current opinion in structural biology, 2015 - Elsevier
Highlights•Missense mutations frequently alter protein biophysical characteristics such as
stability, dynamics and interactions.•Protein biophysical properties are interrelated and …

The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein–protein interactions

CM Yates, MJE Sternberg - Journal of molecular biology, 2013 - Elsevier
Non-synonymous single nucleotide polymorphisms (nsSNPs) are single base changes
leading to a change to the amino acid sequence of the encoded protein. Many of these …

Precision medicine and driver mutations: computational methods, functional assays and conformational principles for interpreting cancer drivers

R Nussinov, H Jang, CJ Tsai… - PLoS computational …, 2019 - journals.plos.org
At the root of the so-called precision medicine or precision oncology, which is our focus
here, is the hypothesis that cancer treatment would be considerably better if therapies were …

Identification of pathogenic missense mutations using protein stability predictors

L Gerasimavicius, X Liu, JA Marsh - Scientific Reports, 2020 - nature.com
Attempts at using protein structures to identify disease-causing mutations have been
dominated by the idea that most pathogenic mutations are disruptive at a structural level …

On human disease‐causing amino acid variants: Statistical study of sequence and structural patterns

M Petukh, TG Kucukkal, E Alexov - Human mutation, 2015 - Wiley Online Library
Statistical analysis was carried out on large set of naturally occurring human amino acid
variations, and it was demonstrated that there is a preference for some amino acid …