Evidence map›Paper›PMID 32926574›Full record

ArticleEMBO molecular medicine2020

The mutational landscape of the SCAN-B real-world primary breast cancer transcriptome.

Christian Brueffer, Sergii Gladchuk, Christof Winter, Johan Vallon-Christersson, Cecilia Hegardt, Jari Häkkinen, Anthony M George, Yilun Chen, Anna Ehinger, Christer Larsson and 5 more

Registry-linked trialAbstract read
In one paragraph

Article in EMBO molecular medicine, 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 54 papers.

0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed
–field-weighted citation impact
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

54 citing papers in PubMed.

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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

15 authors.

Christian BruefferDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.ORCID 0000-0002-3826-0989
Sergii GladchukDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Christof WinterDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.ORCID 0000-0002-0253-9056
Johan Vallon-ChristerssonDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Cecilia HegardtDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Jari HäkkinenDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.ORCID 0000-0002-8466-9179
Anthony M GeorgeDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Yilun ChenDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Anna EhingerDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Christer LarssonLund University Cancer Center, Lund, Sweden.
Niklas LomanDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Martin MalmbergDepartment of Oncology, Skåne University Hospital, Lund, Sweden.
Lisa RydénDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Åke BorgDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Lao H SaalDivision of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.ORCID 0000-0002-0815-1896

Funding

BioCARE Research ProgramCancerfonden (Swedish Cancer Society)Crafoordska Stiftelsen (Crafoord Foundation)Fru Berta Kamprads Stiftelse (Mrs. Berta Kamprad Foundation)Gunnar Nilssons Cancerstiftelse (Gunnar Nilsson Cancer Foundation)Knut och Alice Wallenbergs Stiftelse (Knut and Alice Wallenberg Foundation)Krapperup FoundationLund University Medical Faculty FoundationNational Health ServiceScientific Committee of Blekinge County CouncilSkåne University Hospital FoundationStiftelsen för Strategisk Forskning (SSF)Stiftelsen Konung Gustaf V:s Jubileumsfond (King Gustaf V's Jubilee Foundation)Vetenskapsrådet (VR)VINNOVA (Swedish Governmental Agency for Innovation Systems)
6 · The paper itself

Abstract

Breast cancer is a disease of genomic alterations, of which the panorama of somatic mutations and how these relate to subtypes and therapy response is incompletely understood. Within SCAN-B (ClinicalTrials.gov: NCT02306096), a prospective study elucidating the transcriptomic profiles for thousands of breast cancers, we developed a RNA-seq pipeline for detection of SNVs/indels and profiled a real-world cohort of 3,217 breast tumors. We describe the mutational landscape of primary breast cancer viewed through the transcriptome of a large population-based cohort and relate it to patient survival. We demonstrate that RNA-seq can be used to call mutations in genes such as PIK3CA, TP53, and ERBB2, as well as the status of molecular pathways and mutational burden, and identify potentially druggable mutations in 86.8% of tumors. To make this rich dataset available for the research community, we developed an open source web application, the SCAN-B MutationExplorer (http://oncogenomics.bmc.lu.se/MutationExplorer). These results add another dimension to the use of RNA-seq as a clinical tool, where both gene expression- and mutation-based biomarkers can be interrogated in real-time within 1 week of tumor sampling.

Indexed as

Breast NeoplasmsTranscriptomeBiomarkers, TumorDNA Mutational AnalysisFemaleHumansMutationProspective StudiesBiomarkers, Tumorbreast cancermutationRNA-seqsurvivaltranscriptome

Identifiers

PMID32926574
PMCPMC7539222

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.