ArticleCancers2024
Breast Cancer Polygenic Risk Score Validation and Effects of Variable Imputation.
Jeffrey J Beck, John L Slunecka, Brandon N Johnson, Austin J Van Asselt, Casey T Finnicum, Cheryl Ageton, Amy Krie, Heidi Nickles, Kenneth Cowan, Jessica Maxwell and 4 more
Open access · goldAbstract read
In one paragraphArticle in Cancers, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
1.1field-weighted citation impact, top 21% of its field
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed, 2 citations in OpenAlex.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
14 authors at 4 institutions in 2 countries.
Jeffrey J BeckAvera Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, SD 57105, USA.ORCID 0000-0002-1152-9968 John L SluneckaAvera Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, SD 57105, USA.
Brandon N JohnsonAvera Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, SD 57105, USA.
Austin J Van AsseltAvera Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, SD 57105, USA.
Casey T FinnicumAvera Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, SD 57105, USA.
Cheryl AgetonAvera Cancer Institute, Sioux Falls, SD 57105, USA.
Amy KrieAvera Cancer Institute, Sioux Falls, SD 57105, USA.
Kenneth CowanFred and Pamela Buffet Cancer Center and Eppley Institute for Research in Cancer at University of Nebraska Medical Center, Omaha, NE 68105, USA.
Jessica MaxwellFred and Pamela Buffet Cancer Center and Eppley Institute for Research in Cancer at University of Nebraska Medical Center, Omaha, NE 68105, USA.
Dorret I BoomsmaDepartment of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, The Netherlands.ORCID 0000-0002-7099-7972 Eco de GeusDepartment of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, The Netherlands.ORCID 0000-0001-6022-2666 Erik A EhliAvera Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, SD 57105, USA.ORCID 0000-0002-7865-3015 Jouke-Jan HottengaDepartment of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, 1081 BT Amsterdam, The Netherlands.ORCID 0000-0002-5668-2368 Avera McKennan Hospital & University Health Center · USAvera Health · USVrije Universiteit Amsterdam · NLUniversity of Nebraska Medical Center · US
Funding
UNMC/EPPLEY CANCER CENTER SUPPORT GRANTP30CA036727 · NCI · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI Apar Kishor Ganti · 1985 to 2026
$55.0MIntegration of Genomics & Transcriptomics in Normal Twins & Major DepressionRC2MH089951 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2009 to 2010
$6.5MMajor Depression: Stage 1 Genomewide Association in Population-Based SamplesR01MH081802 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2007
$138kDutch Research Council 480-15-001/674, 184021007, 575-25-006, 480-04-004EPA EP-C-15-001NCI NIH HHS P30 CA036727NIMH NIH HHS MH081802, 1RC2MH089951-01NIMH NIH HHS R01 MH081802NIMH NIH HHS RC2 MH089951
6 · The paper itselfAbstract
Breast cancer (BC) is a complex disease affecting one in eight women in the USA. Advances in population genomics have led to the development of polygenic risk scores (PRSs) with the potential to augment current risk models, but replication is often limited. We evaluated 2 robust PRSs with 313 and 3820 SNPs and the effects of multiple genotype imputation replications in BC cases and control populations. Biological samples from BC cases and cancer-free controls were drawn from three European ancestry cohorts. Genotyping on the Illumina Global Screening Array was followed by stringent quality control measures and 20 genotype imputation replications. A total of 468 unrelated cases and 4337 controls were scored, revealing significant differences in mean PRS percentiles between cases and controls (
Indexed as
breast cancergenetic riskgenotype imputationGWASpolygenic risk scorevalidation
Identifiers
PMID38672660
PMCPMC11048743
OpenAlexW4395004391
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390