Evidence map›Paper›PMID 32164620›Full record

ArticleBMC cancer2020

Mutational landscape differences between young-onset and older-onset breast cancer patients.

Nicole E Mealey, Dylan E O'Sullivan, Joy Pader, Yibing Ruan, Edwin Wang, May Lynn Quan, Darren R Brenner

Open access · goldAbstract read
In one paragraph

Article in BMC cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 32% 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

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.

  1. Pooled it
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  8. Aging-associated differences in mammary tumor-initiating populations and immune evasion pathways in breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2026
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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

7 authors at 3 institutions in 1 country.

Nicole E MealeyDepartment of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.ORCID https://orcid.org/0000-0002-8185-5523
Dylan E O'SullivanDepartment of Public Health Sciences, Queen's University, Kingston, Ontario, Canada.ORCID https://orcid.org/0000-0002-2562-0017
Joy PaderDepartment of Cancer Epidemiology and Prevention Research, CancerControl Alberta, Alberta Health Services, Calgary, Alberta, Canada.ORCID https://orcid.org/0000-0001-6022-5373
Yibing RuanDepartment of Cancer Epidemiology and Prevention Research, CancerControl Alberta, Alberta Health Services, Calgary, Alberta, Canada.ORCID https://orcid.org/0000-0002-2417-7172
Edwin WangDepartment of Biochemistry & Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.ORCID https://orcid.org/0000-0001-8689-5295
May Lynn QuanDepartment of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.ORCID https://orcid.org/0000-0003-2603-0411
Darren R BrennerDepartment of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. darren.brenner@ucalgary.ca.
Alberta Health Services · CAUniversity of Calgary · CAQueen's University · CA

Funding

Canadian Cancer Society 703917CIHR 397332
6 · The paper itself

Abstract

backgroundThe incidence of breast cancer among young women (aged ≤40 years) has increased in North America and Europe. Fewer than 10% of cases among young women are attributable to inherited BRCA1 or BRCA2 mutations, suggesting an important role for somatic mutations. This study investigated genomic differences between young- and older-onset breast tumours.

methodsIn this study we characterized the mutational landscape of 89 young-onset breast tumours (≤40 years) and examined differences with 949 older-onset tumours (> 40 years) using data from The Cancer Genome Atlas. We examined mutated genes, mutational load, and types of mutations. We used complementary R packages "deconstructSigs" and "SomaticSignatures" to extract mutational signatures. A recursively partitioned mixture model was used to identify whether combinations of mutational signatures were related to age of onset.

resultsOlder patients had a higher proportion of mutations in PIK3CA, CDH1, and MAP3K1 genes, while young-onset patients had a higher proportion of mutations in GATA3 and CTNNB1. Mutational load was lower for young-onset tumours, and a higher proportion of these mutations were C > A mutations, but a lower proportion were C > T mutations compared to older-onset tumours. The most common mutational signatures identified in both age groups were signatures 1 and 3 from the COSMIC database. Signatures resembling COSMIC signatures 2 and 13 were observed among both age groups. We identified a class of tumours with a unique combination of signatures that may be associated with young age of onset.

conclusionsThe results of this exploratory study provide some evidence that the mutational landscape and mutational signatures among young-onset breast cancer are different from those of older-onset patients. The characterization of young-onset tumours could provide clues to their etiology which may inform future prevention. Further studies are required to confirm our findings.

Indexed as

Gene Regulatory NetworksAdultAge of OnsetAntigens, CDbeta CateninBreast NeoplasmsCadherinsClass I Phosphatidylinositol 3-KinasesDNA Mutational AnalysisFemaleGATA3 Transcription FactorHumansMAP Kinase Kinase Kinase 1Middle AgedSoftwareYoung AdultAntigens, CDbeta CateninCadherinsCDH1 protein, humanClass I Phosphatidylinositol 3-KinasesCTNNB1 protein, humanGATA3 protein, humanGATA3 Transcription FactorMAP3K1 protein, humanMAP Kinase Kinase Kinase 1PIK3CA protein, humanBreast cancerGenomicsMutational signaturesSomatic mutationsYoung women

Identifiers

PMID32164620
PMCPMC7068998
OpenAlexW3012173974

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.