Evidence map›Paper›PMID 36577833›Full record

ArticleMolecular biology reports2023

Germline variants associated with breast cancer in Khakass women of North Asia.

Polina Gervas, Aleksey Molokov, Aleksei Zarubin, Evgenii Topolnitskiy, Nikolay Shefer, Lubov Pisareva, Evgeny Choynzonov, Nadezda Cherdyntseva

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular biology reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 27% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. 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

8 authors at 4 institutions in 1 country.

Polina GervasTomsk National Research Medical Center, Cancer Research Institute, Russian Academy of Sciences, 5 Kooperativny Street, Tomsk, Russia, 634050. pgervas@yandex.ru.ORCID http://orcid.org/0000-0003-0051-8814
Aleksey MolokovTomsk National Research Medical Center, Cancer Research Institute, Russian Academy of Sciences, 5 Kooperativny Street, Tomsk, Russia, 634050.
Aleksei ZarubinTomsk National Research Medical Center, Research Institute of Medical Genetics, Russian Academy of Science, Tomsk, Russia.
Evgenii TopolnitskiySiberian State Medical University, Tomsk, Russia.
Nikolay SheferTomsk Regional Oncology Center, Tomsk, Russia.
Lubov PisarevaTomsk National Research Medical Center, Cancer Research Institute, Russian Academy of Sciences, 5 Kooperativny Street, Tomsk, Russia, 634050.
Evgeny ChoynzonovTomsk National Research Medical Center, Cancer Research Institute, Russian Academy of Sciences, 5 Kooperativny Street, Tomsk, Russia, 634050.
Nadezda CherdyntsevaTomsk National Research Medical Center, Cancer Research Institute, Russian Academy of Sciences, 5 Kooperativny Street, Tomsk, Russia, 634050.
Russian Academy of Sciences · RUSiberian State Medical University · RUTomsk National Research Medical Center · RUUlyanovsk Regional Oncology Center · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionVariants in the BRCA1/2 genes are responsible for familial breast cancer. Numerous studies showed a different spectrum of BRCA variants among breast cancer patients of different Ethnicity origin. In the available literature, no previous research has focused on breast cancer-associated variants among the Khakass people (the indigenous people of the Russian Federation).

methodsTwenty-six Khakass breast cancer patients were enrolled in the study. Genomic DNA was isolated from blood samples and used to prepare libraries using a Hereditary Cancer Solution kit. Next-generation sequencing (NGS) was performed using the MiSeq System (Illumina, USA).

resultsIn our study, 12% of patients (3/26) carried a single pathogenic variant; 54% of patients (14/26) carried variants of uncertain significance (VUS) or conflicting variants; and 35% of patients (9/26) did not carry any clinically significant variants. Germline pathogenic variant in the ATM gene (rs780619951, NC_000011.10:g.108259022C > T) was identified in two unrelated patients with a family history of cancer (7.6%, 2/26). The pathogenic truncating variant in the ATM gene (p. R805* or c.2413C > T) leads to the nonfunctional version of the protein. This variant has been earlier reported in individuals with a family history of breast cancer.

conclusionsOur pilot study describes the germline variant in the ATM gene associated with breast cancer in Khakass women of North Asia.

Indexed as

Breast NeoplasmsAtaxia Telangiectasia Mutated ProteinsFemaleGenetic Predisposition to DiseaseGerm CellsGerm-Line MutationHumansPilot ProjectsRussiaAtaxia Telangiectasia Mutated ProteinsATM protein, humanBRCABreast cancerGermline variantIndigenous peoplesKhakassPeoples under threat

Identifiers

PMID36577833
OpenAlexW4313279801

What OpenQuestion holds

Textmetadata
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.