Evidence map›Paper›PMID 37922907›Full record

ArticleCell reports methods2023

Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.

Kajal Biswas, Alexander Y Mitrophanov, Sounak Sahu, Teresa Sullivan, Eileen Southon, Darryl Nousome, Susan Reid, Sakshi Narula, Julia Smolen, Trisha Sengupta and 8 more

Open access · goldAbstract read
In one paragraph

Article in Cell reports methods, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 35% 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, 2 citations in OpenAlex.

  1. Reclassification ofCurrent oncology (Toronto, Ont.) · 2026
    Article
  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

18 authors at 3 institutions in 1 country.

Kajal BiswasMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Alexander Y MitrophanovStatistical Consulting and Scientific Programming, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Sounak SahuMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Teresa SullivanMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Eileen SouthonMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA; Leidos Biomed Research Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Darryl NousomeBiomedical Informatics and Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Susan ReidMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Sakshi NarulaMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Julia SmolenMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Trisha SenguptaMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Maximilian Riedel-TopperMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Medha KapoorMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Anav BabbarMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Stacey StaufferMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Linda ClevelandMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA.
Mayank TandonBiomedical Informatics and Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Tyler MalysStatistical Consulting and Scientific Programming, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Shyam K SharanMouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA. Electronic address: sharans@mail.nih.gov.
National Institutes of Health · USFrederick National Laboratory for Cancer Research · USLeidos (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sequencing of genes, such as BRCA1 and BRCA2, is recommended for individuals with a personal or family history of early onset and/or bilateral breast and/or ovarian cancer or a history of male breast cancer. Such sequencing efforts have resulted in the identification of more than 17,000 BRCA2 variants. The functional significance of most variants remains unknown; consequently, they are called variants of uncertain clinical significance (VUSs). We have previously developed mouse embryonic stem cell (mESC)-based assays for functional classification of BRCA2 variants. We now developed a next-generation sequencing (NGS)-based approach for functional evaluation of BRCA2 variants using pools of mESCs expressing 10-25 BRCA2 variants from a given exon. We use this approach for functional evaluation of 223 variants listed in ClinVar. Our functional classification of BRCA2 variants is concordant with the classification reported in ClinVar or those reported by other orthogonal assays.

Indexed as

Genes, BRCA2Ovarian NeoplasmsAnimalsBRCA2 ProteinFemaleHumansMaleMiceMouse Embryonic Stem CellsBRCA2 ProteinBRCA2 protein, humanBACbacterial artificial chromosomeBRCA2breast cancercell viabilityCP: Cancer biologyCP: GeneticsDNA repairfunctional assaymouse ES Cellsrecombineeringvariants of uncertain significanceVUS

Identifiers

PMID37922907
PMCPMC10694496
OpenAlexW4388233731

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.