Evidence map›Paper›PMID 27438779›Full record

ArticleBreast cancer research and treatment2016

Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families.

Taru A Muranen, Nasim Mavaddat, Sofia Khan, Rainer Fagerholm, Liisa Pelttari, Andrew Lee, Kristiina Aittomäki, Carl Blomqvist, Douglas F Easton, Heli Nevanlinna

Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in Breast cancer research and treatment, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07039123 (Polygenic Risk Score to Optimize Primary Prevention in Intermediate Risk Population), which is not on this map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.0field-weighted citation impact, top 9% 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.

NCT07039123 naactive not recruitingnot on this mapstarted 2025, after this paper: background citation

Polygenic Risk Score to Optimize Primary Prevention in Intermediate Risk Population (PERSONAL)

TypeinterventionalSponsorUniversity of BernRan2025 to 2027Enrolled205ConditionsPrimary Prevention of Cardiovascular DiseaseArmsPolygenic Risk Score for Coronary Artery Disease (PRS-CAD), Standardized Risk Communication Tool (SCORE2)
3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 27 citations in OpenAlex.

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  19. Novel Implications in Molecular Diagnosis of Lynch Syndrome.Gastroenterology research and practice · 2017
    Review
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

10 authors at 4 institutions in 2 countries.

Taru A MuranenDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 8, P.O.Box 700, 00029 HUS, Helsinki, Finland.
Nasim MavaddatCentre for Cancer Genetic Epidemiology, Department of Oncology and Department of Public Health and Primary Care;Strangeways Research Laboratory, Worts Causeway, University of Cambridge, Cambridge, CBI 8RN, UK.
Sofia KhanDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 8, P.O.Box 700, 00029 HUS, Helsinki, Finland.
Rainer FagerholmDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 8, P.O.Box 700, 00029 HUS, Helsinki, Finland.
Liisa PelttariDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 8, P.O.Box 700, 00029 HUS, Helsinki, Finland.
Andrew LeeCentre for Cancer Genetic Epidemiology, Department of Oncology and Department of Public Health and Primary Care;Strangeways Research Laboratory, Worts Causeway, University of Cambridge, Cambridge, CBI 8RN, UK.
Kristiina AittomäkiDepartment of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Meilahdentie 2, P.O. Box 160, 00029 HUS, Helsinki, Finland.
Carl BlomqvistDepartment of Oncology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 4, P.O. Box 180, 00029 HUS, Helsinki, Finland.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Oncology and Department of Public Health and Primary Care;Strangeways Research Laboratory, Worts Causeway, University of Cambridge, Cambridge, CBI 8RN, UK.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Haartmaninkatu 8, P.O.Box 700, 00029 HUS, Helsinki, Finland. heli.nevanlinna@hus.fi.
University of Helsinki · FIHelsinki University Hospital · FIUniversity of Cambridge · GBMRC Epidemiology Unit · GB

Funding

Cancer Research UK 10118Cancer Research UK 16563Cancer Research UK C1287/A10118Cancer Research UK C1287/A12014Cancer Research UK C1287/ C1287/A16563
6 · The paper itself

Abstract

The risk of developing breast cancer is increased in women with family history of breast cancer and particularly in families with multiple cases of breast or ovarian cancer. Nevertheless, many women with a positive family history never develop the disease. Polygenic risk scores (PRSs) based on the risk effects of multiple common genetic variants have been proposed for individual risk assessment on a population level. We investigate the applicability of the PRS for risk prediction within breast cancer families. We studied the association between breast cancer risk and a PRS based on 75 common genetic variants in 52 Finnish breast cancer families including 427 genotyped women and pedigree information on ~4000 additional individuals by comparing the affected to healthy family members, as well as in a case-control dataset comprising 1272 healthy population controls and 1681 breast cancer cases with information on family history. Family structure was summarized using the BOADICEA risk prediction model. The PRS was associated with increased disease risk in women with family history of breast cancer as well as in women within the breast cancer families. The odds ratio (OR) for breast cancer within the family dataset was 1.55 [95 % CI 1.26-1.91] per unit increase in the PRS, similar to OR in unselected breast cancer cases of the case-control dataset (1.49 [1.38-1.62]). High PRS-values were informative for risk prediction in breast cancer families, whereas for the low PRS-categories the results were inconclusive. The PRS is informative in women with family history of breast cancer and should be incorporated within pedigree-based clinical risk assessment.

Indexed as

Genetic VariationAlgorithmsBreast NeoplasmsCase-Control StudiesFemaleFinlandGenetic Predisposition to DiseaseGenotyping TechniquesHumansMultifactorial InheritancePedigreeBreast cancerCommon variantsHereditaryPRSRisk

Identifiers

PMID27438779
PMCPMC4963452
OpenAlexW2504552842

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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Registered trials

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.