Evidence map›Paper›PMID 37013556›Full record

ArticleJournal of ovarian research2023

Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan.

D S Prokofyeva, E T Mingazheva, Ya V Valova, D D Sakaeva, R R Faishanova, A Kh Nurgalieva, R R Valiev, N Bogdanova, T Dörk, E K Khusnutdinova

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of ovarian research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 42% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 2 countries.

D S ProkofyevaFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and Technology, Ufa, 450076, Russia. dager-glaid@yandex.ru.
E T MingazhevaFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and Technology, Ufa, 450076, Russia.
Ya V ValovaFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and Technology, Ufa, 450076, Russia.
D D SakaevaMinistry of Health of the Republic of Bashkortostan State Autonomous Healthcare Institution, Republican Clinical Oncology Center, Ufa, 450008, Russia.
R R FaishanovaMinistry of Health of the Republic of Bashkortostan State Autonomous Healthcare Institution, Republican Clinical Oncology Center, Ufa, 450008, Russia.
A Kh NurgalievaFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and Technology, Ufa, 450076, Russia.
R R ValievFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and Technology, Ufa, 450076, Russia.
N BogdanovaDepartment of Obstetrics and Gynecology, Hannover Medical School, 30625, Hannover, Germany.
T DörkDepartment of Obstetrics and Gynecology, Hannover Medical School, 30625, Hannover, Germany. doerk.thilo@mh-hannover.de.ORCID http://orcid.org/0000-0002-9458-0282
E K KhusnutdinovaFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and Technology, Ufa, 450076, Russia.
Medizinische Hochschule Hannover · DEUfa Institute of Chemistry · RUYandex (Russia) · RU

Funding

German Research Foundation Do761/15-1Ministry of Science and Higher Education of Russian Federation FZWU-2020-0027Russian Foundation for Basic Research 18-29-09129
6 · The paper itself

Abstract

About 5-10% of all ovarian cancer cases show familial clustering, and some 15-25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have been identified for familial ovarian cancer.We conducted targeted next-generation sequencing of the protein coding region of 21 candidate genes, including UTR regions, in genomic DNA samples of 48 patients with familial ovarian cancer from the Republic of Bashkortostan. We identified deleterious variants in BRCA1, BRCA2, CHEK2, MSH6 and NBN in a total of 16 patients (33%). The NBN truncating variant, p.W143X, had not previously been reported. Seven patients (15%) were carriers of the c.5266dupC variant in BRCA1, supporting a Russian origin of this founder allele. An additional 15 variants of uncertain clinical significance were observed. We conclude that our gene panel explains about one-third of familial ovarian cancer risk in the Republic of Bashkortostan.

Indexed as

Breast NeoplasmsOvarian NeoplasmsBashkiriaBRCA1 ProteinCarcinoma, Ovarian EpithelialFemaleGenes, BRCA2Genetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMutationBRCA1 ProteinGermline mutationsHereditary ovarian cancerLikely pathogenic variantsPathogenic variantsTarget sequencing

Identifiers

PMID37013556
PMCPMC10071671
OpenAlexW4362520820

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.