Targeted sequencing of 242 clinically important genes in the Russian population from the ivanovo region
VE Ramensky, AI Ershova, M Zaicenoka… - Frontiers in …, 2021 - frontiersin.org
We performed a targeted sequencing of 242 clinically important genes mostly associated
with cardiovascular diseases in a representative population sample of 1,658 individuals …
with cardiovascular diseases in a representative population sample of 1,658 individuals …
[HTML][HTML] High-and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia
S Shumilova, A Danishevich, S Nikolaev… - International Journal of …, 2024 - mdpi.com
Assessments of breast cancer (BC) risk in carriers of pathogenic variants identified by gene
panel testing in different populations are highly in demand worldwide. We performed target …
panel testing in different populations are highly in demand worldwide. We performed target …
Epimc: detecting epistatic interactions using multiple clusterings
J Wang, H Zhang, W Ren, M Guo… - IEEE/ACM Transactions …, 2021 - ieeexplore.ieee.org
Detecting single nucleotide polymorphisms (SNPs) interactions is crucial to identify
susceptibility genes associated with complex human diseases in genome-wide association …
susceptibility genes associated with complex human diseases in genome-wide association …
Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers
D Pirim, N Kaya, EU Yıldırım, SO Sag… - International Journal of …, 2020 - Elsevier
Pathogenic variants in the coding regions of the BRCA1/2 lead dysfunctional or
nonfunctional BRCA proteins however the contribution of non-coding BRCA1/2 variants to …
nonfunctional BRCA proteins however the contribution of non-coding BRCA1/2 variants to …
BRACNAC: A BRCA1 and BRCA2 Copy Number Alteration Caller from Next-Generation Sequencing Data
A Kechin, U Boyarskikh, V Borobova… - International Journal of …, 2023 - mdpi.com
Detecting copy number variations (CNVs) and alterations (CNAs) in the BRCA1 and BRCA2
genes is essential for testing patients for targeted therapy applicability. However, the …
genes is essential for testing patients for targeted therapy applicability. However, the …
Untapped Potential of Poly (ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing
A Lebedeva, E Veselovsky, A Kavun, E Belova… - World Journal of …, 2024 - wjon.org
Background: Testing for homologous recombination deficiency (HRD) mutations is pivotal to
assess individual risk, to proact preventive measures in healthy carriers and to tailor …
assess individual risk, to proact preventive measures in healthy carriers and to tailor …
A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature …
P Loza, A Irmejs, Z Daneberga, E Miklasevics… - Hereditary Cancer in …, 2021 - Springer
Background Several recent studies in the Baltic region have found extended spectrum of
pathogenic variants (PV) of the BRCA1/2 genes. The aim of current study is to analyze the …
pathogenic variants (PV) of the BRCA1/2 genes. The aim of current study is to analyze the …
[HTML][HTML] Evaluation of the BRCA2 Gene Variants Association with the Risk of Breast Cancer in the Iranian Population
MT Hosseinzadeh, FS Nematpour, AS Afshar - Jentashapir Journal of … - brieflands.com
Background: Breast cancer (BC) is the most common cancer among Iranian women. Several
factors affect the risk of developing the disease, with genetic factors being considered the …
factors affect the risk of developing the disease, with genetic factors being considered the …
Интегральный анализ геномных и транскриптомных изменений при светлоклеточной почечно-клеточной карциноме в российской популяции
СА Солодских, АВ Паневина… - Сибирский …, 2019 - cyberleninka.ru
Почечно-клеточная карцинома (ПКК) является одной из наиболее распространенных
солидных опухолей почки (90% всех случаев рака почки), при этом светлоклеточная …
солидных опухолей почки (90% всех случаев рака почки), при этом светлоклеточная …