Evidence map›Paper›PMID 38136396›Full record

ArticleCancers2023

A Rare Variant in

Lisa A Cannon-Albright, Jeff Stevens, Craig C Teerlink, Julio C Facelli, Kristina Allen-Brady, Alana L Welm

Open access · goldAbstract read
In one paragraph

Article in Cancers, 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
0.9field-weighted citation impact, top 19% 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, 3 citations in OpenAlex.

  1. Review
  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

6 authors at 1 institution in 1 country.

Lisa A Cannon-AlbrightGenetic Epidemiology Group, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.ORCID 0000-0003-2602-3668
Jeff StevensGenetic Epidemiology Group, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
Craig C TeerlinkGenetic Epidemiology Group, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
Julio C FacelliDepartment of Biomedical Informatics and Utah Clinical and Translational Science Institute, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.ORCID 0000-0003-1449-477X
Kristina Allen-BradyGenetic Epidemiology Group, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.ORCID 0000-0001-9394-5211
Alana L WelmHuntsman Cancer Institute, Salt Lake City, UT 84132, USA.ORCID 0000-0002-1412-1351
University of Utah · US

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6M
Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
CTSA UM1 Program at University of UtahUM1TR004409 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RACHEL HESS, Jennifer Juhl Majersik · 2023 to 2026
$21.9M
ChimeraX -- Next Generation Visualization and Analysis Software for Multiscale ModelingR01GM129325 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FERRIN, THOMAS E · 2018 to 2025
$5.2M
CSRD VA 1NCATS NIH HHS 1ULTR002538NCATS NIH HHS UM1 TR004409NCI NIH HHS HHSN261201800016CNCI NIH HHS HHSN261201800016INCI NIH HHS P30 CA042014NCI NIH HHS P30CA042014NIGMS NIH HHS R01 GM129325NIH HHS 1S10OD02164401A1NIH HHS R01-GM129325
6 · The paper itself

Abstract

A significant fraction of breast cancer recurs, with lethal outcome, but specific genetic variants responsible have yet to be identified. Five cousin pairs with recurrent breast cancer from pedigrees with a statistical excess of recurrent breast cancer were sequenced to identify rare, shared candidate predisposition variants. The candidates were tested for association with breast cancer risk with UKBiobank data. Additional breast cancer cases were assayed for a subset of candidate variants to test for co-segregation. Three-dimensional protein structure prediction methods were used to investigate how the mutation under consideration is predicted to change structural and electrostatic properties in the mutated protein. One hundred and eighty-one rare candidate predisposition variants were shared in at least one cousin pair from a high-risk pedigree. A rare variant in

Indexed as

CHEK2MDH2pedigreePMS2predispositionrecurrent breast cancerUPDB

Identifiers

PMID38136396
PMCPMC10741671
OpenAlexW4389783903

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.