Helga Bergholtz

ORCID: 0000-0003-0999-1106
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About
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Research Areas
  • Estrogen and related hormone effects
  • Epigenetics and DNA Methylation
  • Cancer-related gene regulation
  • Cancer Genomics and Diagnostics
  • Gene expression and cancer classification
  • Cancer-related molecular mechanisms research
  • Ferroptosis and cancer prognosis
  • Cancer Immunotherapy and Biomarkers
  • Bioinformatics and Genomic Networks
  • RNA modifications and cancer
  • Cancer Cells and Metastasis
  • Single-cell and spatial transcriptomics
  • Genetics, Bioinformatics, and Biomedical Research
  • Immunotherapy and Immune Responses
  • Breast Cancer Treatment Studies
  • Advanced biosensing and bioanalysis techniques
  • Angiogenesis and VEGF in Cancer
  • Hedgehog Signaling Pathway Studies
  • Genetic Associations and Epidemiology
  • Pancreatic and Hepatic Oncology Research
  • Axon Guidance and Neuronal Signaling
  • Barrier Structure and Function Studies
  • CRISPR and Genetic Engineering
  • AI in cancer detection
  • Immune cells in cancer

Oslo University Hospital
2013-2025

University of Oslo
2018-2020

Norwegian Cancer Society
2020

Cancer Genetics (United States)
2018-2019

Abstract To investigate immune escape during breast tumor progression, we analyzed the composition of leukocytes in normal tissues, ductal carcinoma situ (DCIS), and invasive carcinomas (IDC). We found significant tissue subtype-specific differences multiple cell types including T cells neutrophils. Gene expression profiling CD45+CD3+ demonstrated a decrease CD8+ signatures IDCs. Immunofluorescence analysis showed fewer activated GZMB+CD8+ IDC than DCIS, matched DCIS recurrent IDC. T-cell...

10.1158/2159-8290.cd-17-0222 article EN Cancer Discovery 2017-06-27

Abstract The claudin-low breast cancer subtype is defined by gene expression characteristics and encompasses a remarkably diverse range of tumors. Here, we investigate genomic, transcriptomic, clinical features We show that not simply analogous to the intrinsic subtypes (basal-like, HER2-enriched, luminal A, B normal-like) as previously portrayed, but complex additional phenotype which may permeate tumors various subtypes. Claudin-low are distinguished low genomic instability, mutational...

10.1038/s41467-020-15574-5 article EN cc-by Nature Communications 2020-04-14

Breast cancer is a heterogenous disease with variability in tumor cells and the surrounding microenvironment (TME). Understanding molecular diversity breast critical for improving prediction of therapeutic response prognostication. High-plex spatial profiling tumors enables characterization heterogeneity TME, which can holistically illuminate biology growth, dissemination and, ultimately, to therapy. The GeoMx Digital Spatial Profiler (DSP) researchers spatially resolve quantify proteins RNA...

10.3390/cancers13174456 article EN Cancers 2021-09-04

Abstract Ductal carcinoma in situ (DCIS) is a non-invasive type of breast cancer with highly variable potential becoming invasive and affecting mortality. Currently, many patients DCIS are overtreated due to the lack specific biomarkers that distinguish low risk lesions from those higher progression. In this study, we analyzed 57 pure 313 cancers (IBC) different patients. Three levels genomic data were obtained; gene expression, DNA methylation, copy number. We performed subtype stratified...

10.1038/s41523-020-0167-x article EN cc-by npj Breast Cancer 2020-06-17

Systematically investigating the scores of genes mutated in cancer and discerning disease drivers from inconsequential bystanders is a prerequisite for precision medicine but remains challenging. Here, we developed somatic CRISPR/Cas9 mutagenesis screen to study 215 recurrent "long-tail" breast genes, which revealed epigenetic regulation as major tumor-suppressive mechanism. We report that components BAP1 COMPASS-like complexes, including KMT2C/D, KDM6A, BAP1, ASXL1/2 ("EpiDrivers"),...

10.1158/2159-8290.cd-21-0865 article EN Cancer Discovery 2022-09-15

Abstract During breast tumor progression, the transition from ductal carcinoma in situ (DCIS) to invasive cancer is a critical step with large implications for prognosis. However, mechanisms of invasion are still largely unknown. At DCIS stage, there an over-representation HER2-positive lesions compared cancer. In this study, we investigated associations between gene expression profiles cells and immune microenvironment tumors concurrent using spatial transcriptomics. We found distinctly...

10.1186/s13058-025-01990-2 article EN cc-by Breast Cancer Research 2025-03-21

Abstract Breast cancers in humans belong to one of several intrinsic molecular subtypes each with different tumor biology and clinical impact. Mammary gland tumors dogs are proposed as a relevant comparative model for human breast cancer; however, it is still unclear whether the have same significance humans. Using publicly available data, we analyzed gene expression whole-exome sequencing data from 158 canine mammary tumors. We performed subtyping using PAM50 method followed by...

10.1007/s10911-022-09523-9 article EN cc-by Journal of Mammary Gland Biology and Neoplasia 2022-06-01

Claudin-low breast cancer is a molecular subtype associated with poor prognosis and without targeted treatment options. The claudin-low defined by certain biological characteristics, some of which may be clinically actionable, such as high immunogenicity. In mice, the medroxyprogesterone acetate (MPA) 7,12-dimethylbenzanthracene (DMBA)-induced mammary tumor model yields heterogeneous set tumors, subset display features. Neither genomic characteristics MPA/DMBA-induced tumors nor those human...

10.1186/s13058-019-1170-8 article EN cc-by Breast Cancer Research 2019-07-31

Ductal carcinoma in situ (DCIS) is a preinvasive form of breast cancer with highly variable potential becoming invasive and affecting mortality the patients. Due to lack accurate markers disease progression, many women detected DCIS are currently overtreated. To distinguish those cases who likely require therapy from should be left untreated, there need for robust predictive biomarkers extracted molecular or genetic profiles. We developed supervised machine learning approach that implements...

10.3389/fgene.2021.670749 article EN cc-by Frontiers in Genetics 2021-06-03

Abstract Background A better understanding of ductal carcinoma in situ (DCIS) is urgently needed to identify these preinvasive lesions as distinct clinical entities. Semaphorin 3F (SEMA3F) a soluble axonal guidance molecule, and its coreceptors Neuropilin 1 (NRP1) NRP2 are strongly expressed invasive epithelial BC cells. Methods We utilized two cell line models represent the progression from healthy state mild-aggressive or stage and, ultimately, lines. Additionally, we employed vivo...

10.1186/s13058-024-01871-0 article EN cc-by Breast Cancer Research 2024-08-13

Unsupervised clustering is important in disease subtyping, among having other genomic applications. As data has become more multifaceted, how to cluster across sources for precise subtyping an ever area of research. Many the methods proposed so far, including iCluster and Cluster Assignments (COCAs), make unreasonable assumption a common all sources, those that do not are fewer tend be computationally intensive.We propose Bayesian parametric model integrative, unsupervised sources. In our...

10.1093/bioinformatics/btz381 article EN Bioinformatics 2019-05-01

Increased expression of GLI1, the main Hedgehog signalling pathway effector, is related to unfavourable prognosis and progressive disease certain breast cancer subtypes. We used conditional transgenic mice induced overexpress GLI1 in mammary epithelium either alone or combination with deletion one Trp53 allele address role elevated tumour initiation progression. Induced facilitates gland formation this was further increased upon heterozygous . The GLI1‐induced primary tumours were different...

10.1002/ijc.32522 article EN cc-by-nc-nd International Journal of Cancer 2019-06-20

Abstract Background Ductal carcinoma in situ (DCIS) comprises a diverse group of preinvasive lesions the breast and poses considerable clinical challenge due to lack markers progression. Genomic alterations are large extent similar DCIS invasive carcinomas, although differences copy number aberrations, gene expression patterns, mutations exist. In mixed tumors with synchronous cancer (IBC) DCIS, it is still unclear what tumor cells directly derived from cells. Aim Our aim was compare...

10.1002/cnr2.1248 article EN cc-by Cancer Reports 2020-05-28

Abstract Background Identifying gene interactions is a topic of great importance in genomics, and approaches based on network models provide powerful tool for studying these. Assuming Gaussian graphical model, association may be estimated from multiomic data the non-zero entries inverse covariance matrix. Inferring such biological networks challenging because high dimensionality problem, making traditional estimators unsuitable. The lasso constructed estimation sparse matrices situations,...

10.1186/s12859-021-04413-z article EN cc-by BMC Bioinformatics 2021-10-15

High mammographic density (MD) is associated with a 4–6 times increase in breast cancer risk. For post-menopausal women, MD often decreases over time, but little known about the underlying biological mechanisms. reflects tissue composition, and may be microenvironment subtypes previously identified tumor-adjacent normal tissue. Currently, these have not been explored We obtained biopsies from breasts of healthy women at two different time points several years apart performed microarray gene...

10.1007/s10911-018-09423-x article EN cc-by Journal of Mammary Gland Biology and Neoplasia 2019-01-06

<div>Abstract<p>Systematically investigating the scores of genes mutated in cancer and discerning disease drivers from inconsequential bystanders is a prerequisite for precision medicine but remains challenging. Here, we developed somatic CRISPR/Cas9 mutagenesis screen to study 215 recurrent “long-tail” breast genes, which revealed epigenetic regulation as major tumor-suppressive mechanism. We report that components BAP1 COMPASS-like complexes, including KMT2C/D, KDM6A, BAP1,...

10.1158/2159-8290.c.6549708 preprint EN 2023-04-04

Abstract Fibroblast Growth Factor Receptor 1 (FGFR1) has emerged as a critical player in various cancer types, including breast cancer. FGFR1 alterations, gene amplification, overexpression, and activating mutations, have been identified subsets of cancers, contributing to aberrant signaling pathways that promote tumor growth, angiogenesis, metastasis. Our current research endeavors are directed towards unravelling the intricate mechanistic underpinnings FGFR1's dual impact on progression,...

10.1158/1538-7445.sabcs23-po2-27-04 article EN Cancer Research 2024-05-02

Abstract Up to 50% of patients diagnosed with ductal carcinoma in situ (DCIS) never experience progression invasive disease, even if left untreated. Current knowledge what makes DCIS become is limited and we lack diagnostic tools predict which can be spared treatment. Escape tumor cells from the breast ducts influenced by characteristics cells, microenvironment surrounding ducts, interplay between two. Intraductal are not physically contact extraductal stromal cells. Until now, analyses...

10.1158/1538-7445.advbc23-pr05 article EN Cancer Research 2024-02-01

<title>Abstract</title> <bold>Background</bold>: A better understanding of ductal carcinoma <italic>in situ</italic> (DCIS) is urgently needed to identify these preinvasive lesions as distinct clinical entities. Semaphorin 3F (SEMA3F) a soluble axonal guidance molecule, and its coreceptors Neuropilin 1 (NRP1) NRP2 are strongly expressed in invasive epithelial BC cells. <bold>Methods:</bold> We utilized two cell line models represent the progression from healthy state mild-aggressive or stage...

10.21203/rs.3.rs-4052253/v1 preprint EN cc-by Research Square (Research Square) 2024-03-13

Abstract Motivation Unsupervised clustering is important in disease subtyping, among having other genomic applications. As data has become more multifaceted, how to cluster across sources for precise subtyping an ever area of research. Many the methods proposed so far, including iCluster and Cluster Assignments, make unreasonble assumption a common all sources, those that do not are fewer tend be computationally intensive. Results We propose Bayesian parametric model integrative,...

10.1101/387076 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2018-08-07

The claudin-low breast cancer subtype is defined by gene expression characteristics and encompasses a remarkably diverse range of tumors. Here, we investigate genomic, transcriptomic, clinical features We show that not simply analogous to the intrinsic subtypes (basal-like, HER2-enriched, luminal A, B normal-like) as previously portrayed, but complex additional phenotype which may permeate tumors various subtypes. Claudin-low were distinguished low genomic instability, mutational burden...

10.1101/756411 preprint EN cc-by bioRxiv (Cold Spring Harbor Laboratory) 2019-09-09
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