Evidence map›Paper›PMID 32719340›Full record

ArticleNature communications2020

Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers.

Dominik Glodzik, Ana Bosch, Johan Hartman, Mattias Aine, Johan Vallon-Christersson, Christel Reuterswärd, Anna Karlsson, Shamik Mitra, Emma Niméus, Karolina Holm and 13 more

Registry-linked trialOpen access · goldAbstract readComparative Study
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02306096 (SCAN-B), which is not on this map. Cited by 70 papers.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed
10.6field-weighted citation impact, top 1% 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.

NCT02306096 recruitingnot on this map

SCAN-B: The Sweden Cancerome Analysis Network - Breast Initiative

TypeobservationalSponsorLund UniversityRan2010 to 2031Enrolled20,000ConditionsBreast Neoplasms
3 · Its place in the literature

Who cites it

70 citing papers in PubMed, 132 citations in OpenAlex.

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  5. Higher Levels ofMedical sciences (Basel, Switzerland) · 2026
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  9. Prevalence ofJCO precision oncology · 2026
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10 more citing papers are in PubMed but not listed here.

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

23 authors at 5 institutions in 3 countries.

Dominik Glodzik *Division of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Ana Bosch *Division of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Johan HartmanDepartment of Oncology and Pathology, Karolinska Institute, SE-17177, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-6500-8527
Mattias AineDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.ORCID http://orcid.org/0000-0002-0851-5952
Johan Vallon-ChristerssonDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Christel ReuterswärdDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Anna KarlssonDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Shamik MitraDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.ORCID http://orcid.org/0000-0001-6995-0600
Emma NiméusDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Karolina HolmDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Jari HäkkinenDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.ORCID http://orcid.org/0000-0002-8466-9179
Cecilia HegardtDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Lao H SaalDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.ORCID http://orcid.org/0000-0002-0815-1896
Christer LarssonDivision of Translational Cancer Research, Department of Laboratory Medicine, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Martin MalmbergDepartment of Oncology, Skåne University Hospital, SE-22184, Lund, Sweden.ORCID http://orcid.org/0000-0002-9500-8982
Lisa RydénDivision of Surgery, Department of Clinical Sciences, Lund University, SE-22184, Lund, Sweden.
Anna EhingerDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.ORCID http://orcid.org/0000-0001-9225-7396
Niklas LomanDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Anders KvistDivision of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.ORCID http://orcid.org/0000-0002-1358-0695
Hans EhrencronaDepartment of Genetics and Pathology, Laboratory Medicine, Region Skåne, SE-22184, Lund, Sweden.ORCID http://orcid.org/0000-0002-5589-3622
Serena Nik-Zainal *Academic Department of Medical Genetics, The Clinical School University of Cambridge, Cambridge Biomedical Research Campus, CB2 0QQ, Cambridge, UK.ORCID http://orcid.org/0000-0001-5054-1727
Åke Borg *Division of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden.
Johan Staaf *Division of Oncology, Department of Clinical Sciences Lund, Lund University, Medicon Village, SE-22381, Lund, Sweden. johan.staaf@med.lu.se.ORCID http://orcid.org/0000-0001-5254-5115
Lund University · SEKarolinska Institutet · SEMemorial Sloan Kettering Cancer Center · USSkåne University Hospital · SEUniversity of Cambridge · GB

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Cancer Research UK 22932Cancer Research UK 23433Cancer Research UK 23916Cancer Research UK 27815Cancer Research UK C60100/A23916Cancer Research UK C60100/A25274NCI NIH HHS P30 CA008748Wellcome Trust WT100183MA
6 · The paper itself

Abstract

Homologous recombination deficiency (HRD) is a defining characteristic in BRCA-deficient breast tumors caused by genetic or epigenetic alterations in key pathway genes. We investigated the frequency of BRCA1 promoter hypermethylation in 237 triple-negative breast cancers (TNBCs) from a population-based study using reported whole genome and RNA sequencing data, complemented with analyses of genetic, epigenetic, transcriptomic and immune infiltration phenotypes. We demonstrate that BRCA1 promoter hypermethylation is twice as frequent as BRCA1 pathogenic variants in early-stage TNBC and that hypermethylated and mutated cases have similarly improved prognosis after adjuvant chemotherapy. BRCA1 hypermethylation confers an HRD, immune cell type, genome-wide DNA methylation, and transcriptional phenotype similar to TNBC tumors with BRCA1-inactivating variants, and it can be observed in matched peripheral blood of patients with tumor hypermethylation. Hypermethylation may be an early event in tumor development that progress along a common pathway with BRCA1-mutated disease, representing a promising DNA-based biomarker for early-stage TNBC.

Indexed as

AdultAgedB7-H1 AntigenBRCA1 ProteinCohort StudiesDNA MethylationFemaleGene Expression Regulation, NeoplasticHumansMiddle AgedMutationPhenotypePrognosisPromoter Regions, GeneticTranscription, GeneticTreatment OutcomeB7-H1 AntigenBRCA1 ProteinBRCA1 protein, humanCD274 protein, human

Identifiers

PMID32719340
PMCPMC7385112
OpenAlexW3044764646

What OpenQuestion holds

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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.