Evidence map›Paper›PMID 35267517›Full record

ArticleCancers2022

A Swedish Genome-Wide Haplotype Association Analysis Identifies a Novel Breast Cancer Susceptibility Locus in 8p21.2 and Characterizes Three Loci on Chromosomes 10, 11 and 16.

Elin Barnekow, Wen Liu, Hafdis T Helgadottir, Kyriaki Michailidou, Joe Dennis, Patrick Bryant, Jessada Thutkawkorapin, Camilla Wendt, Kamila Czene, Per Hall and 2 more

Open access · goldAbstract read
In one paragraph

Article in Cancers, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.7field-weighted citation impact, top 16% 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

9 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
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  7. LowerBiology · 2024
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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

12 authors at 7 institutions in 4 countries.

Elin BarnekowDepartment of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, 11883 Stockholm, Sweden.ORCID 0000-0002-4960-664X
Wen LiuDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.
Hafdis T HelgadottirDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.ORCID 0000-0003-4352-152X
Kyriaki MichailidouThe Cyprus Institute of Neurology & Genetics, Cyprus School of Molecular Medicine, 1683 Nicosia, Cyprus.ORCID 0000-0001-7065-1237
Joe DennisCentre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB18RN, UK.ORCID 0000-0003-4591-1214
Patrick BryantDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.
Jessada ThutkawkorapinDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.
Camilla WendtDepartment of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, 11883 Stockholm, Sweden.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17165 Stockholm, Sweden.
Per HallDepartment of Oncology, Södersjukhuset, 11883 Stockholm, Sweden.ORCID 0000-0002-5640-9126
Sara MargolinDepartment of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, 11883 Stockholm, Sweden.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.ORCID 0000-0001-7675-7569
Karolinska Institutet · SEKarolinska University Hospital · SEChulalongkorn University · THCyprus Institute of Neurology and Genetics · CYStockholm University · SEUniversity of Cambridge · GBUppsala University · SE

Funding

Märit and Hans Rausing´s Initiative Against Breast CancerRadium Hemmets Research Funds 191203Stockholm County Council 500395Swedish Cancer Society 18-0700Swedish Research Council 2019-01441
6 · The paper itself

Abstract

(1) Background: The heritability of breast cancer is partly explained but much of the genetic contribution remains to be identified. Haplotypes are often used as markers of ethnicity as they are preserved through generations. We have previously demonstrated that haplotype analysis, in addition to standard SNP association studies, could give novel and more detailed information on genetic cancer susceptibility. (2) Methods: In order to examine the association of a SNP or a haplotype to breast cancer risk, we performed a genome wide haplotype association study, using sliding window analysis of window sizes 1−25 and 50 SNPs, in 3200 Swedish breast cancer cases and 5021 controls. (3) Results: We identified a novel breast cancer susceptibility locus in 8p21.1 (OR 2.08; p 3.92 × 10−8), confirmed three known loci in 10q26.13, 11q13.3, 16q12.1-2 and further identified novel subloci within these three loci. Altogether 76 risk SNPs, 3302 risk haplotypes of window size 2−25 and 113 risk haplotypes of window size 50 at p < 5 × 10−8 on chromosomes 8, 10, 11 and 16 were identified. In the known loci haplotype analysis reached an OR of 1.48 in overall breast cancer and in familial cases OR 1.68. (4) Conclusions: Analyzing haplotypes, rather than single variants, could detect novel susceptibility loci even in small study populations but the method requires a fairly homogenous study population.

Indexed as

BNIP3Lbreast cancerCASC16FGFR2GWAShaplotypeTOX3

Identifiers

PMID35267517
PMCPMC8909613
OpenAlexW4214535024

What OpenQuestion holds

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Registered trials

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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.