Massive parallel sequencing for diagnostic genetic testing of BRCA genes - A single center experience genetics testing. We developed and tested an amplicon-based method for resequencing the
BRCA1 and
BRCA2 Coordinated Evolution of Influenza A Surface Proteins in NA in subtype H
1N
1 were likely facilitated by prior
mutations in HA. Our results illustrate
Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomasLukyanova E.N.,
Snezhkina A.V.,
Kalinin D.V.,
Pokrovsky A.V.,
Golovyuk A.L.,
Stepanov O.A.,
Pudova E.A.,
Razmakhaev G.S.,
Orlova M.V.,
Polyakov A.P.,
Kiseleva M.V.,
Kaprin A.D.,
Kudryavtseva A.V. ), potentially pathogenic
mutations were identified in four
genes (CDC27, CTBP
2, HYDIN, and KMT5A). Many
The Population Need in Genetic Tests for Predisposition to Breast Cancer. It is established that females with
gene mutations BRCA1 and
BRCA2 have a higher risk of development of breast
Spread of variants with gene n hot spot mutations in russian SARS-COV-2 isolates. The
mutation accumulation was compared in 86 SARS-CoV-
2 whole-genome sequences from Russia and 220 from Europe
Prospects for the treatment of neurofibromatosis type 1: A review mutations in NF
1 gene. Protein product of NF
1 is a neurofibromin, which inhibits RAS-RAF-MEK-ERK system
ASSOCIATION OF 22 POTENTIAL PATHOGENIC VARIANTS OF NEW CANDIDATE GENES AND THE RISK OF OVARIAN CANCERMingazheva, E.T.,
Prokofyeva, D.S.,
Valova, Ya.V.,
Andreeva, E.A.,
Nurgalieva, A.Kh.,
Valiev, R.R.,
Ekomasova, N.V.,
Faishanova, R.R.,
Romanova, A.R.,
Khusnutdinova, E.K. The high risk of ovarian cancer is primarily associated with
mutations in
BRCA1 and
BRCA2 genes A newly identified mutation in the JAK3 gene in a child with severe combined immune insufficiency, two heterozygous
mutations were found in the JAK3
gene using next-generation sequencing. A
mutation EGFR AND BRCA2 MUTATIONS ASSOCIATED WITH ADENOCARCINOMA OF THE LUNGEGFR AND
BRCA2 MUTATIONS ASSOCIATED WITH ADENOCARCINOMA OF THE LUNG