ArticleBMC medical genomics2014
RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families.
Article in BMC medical genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Preliminary evaluation of ShallowHRD performance compared to HRDetect in familial breast cancer tumors.Scientific reports · 2025Article
- Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.Breast cancer research : BCR · 2023Article
- Article
- Increased gene expression variability in BRCA1-associated and basal-like breast tumours.Breast cancer research and treatment · 2021Article
- Genome-Wide Gene Expression Analyses ofCancers · 2020Review
- Reparameterization of PAM50 Expression Identifies Novel Breast Tumor Dimensions and Leads to Discovery of a Genome-Wide Significant Breast Cancer Locus atCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Article
- Molecular subtyping of tumors from patients with familial glioma.Neuro-oncology · 2018Article
- Transcriptional signature of lymphoblastoid cell lines ofOncotarget · 2017Article
- Molecular characterization of breast cancer cell lines through multiple omic approaches.Breast cancer research : BCR · 2017Article
- Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.International journal of molecular sciences · 2017Article
- miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype.Oncotarget · 2016Article
- Microarray-based RNA profiling of breast cancer: batch effect removal improves cross-platform consistency.BioMed research international · 2014Article
- Hereditary breast cancer: clinical, pathological and molecular characteristics.Breast cancer : basic and clinical research · 2014Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn more than 70% of families with a strong history of breast and ovarian cancers, pathogenic mutation in BRCA1 or BRCA2 cannot be identified, even though hereditary factors are expected to be involved. It has been proposed that tumors with similar molecular phenotypes also share similar underlying pathophysiological mechanisms. In the current study, the aim was to investigate if global RNA profiling can be used to identify functional subgroups within breast tumors from families tested negative for BRCA1/2 germline mutations and how these subgroupings relate to different breast cancer patients within the same family.
methodsIn the current study we analyzed a collection of 70 frozen breast tumor biopsies from a total of 58 families by global RNA profiling and promoter methylation analysis.
resultsWe show that distinct functional subgroupings, similar to the intrinsic molecular breast cancer subtypes, exist among non-BRCA1/2 breast cancers. The distribution of subtypes was markedly different from the distribution found among BRCA1/2 mutation carriers. From 11 breast cancer families, breast tumor biopsies from more than one affected family member were included in the study. Notably, in 8 of these families we found that patients from the same family shared the same tumor subtype, showing a tendency of familial aggregation of tumor subtypes (p-value = 1.7e-3). Using our previously developed BRCA1/2-signatures, we identified 7 non-BRCA1/2 tumors with a BRCA1-like molecular phenotype and provide evidence for epigenetic inactivation of BRCA1 in three of the tumors. In addition, 7 BRCA2-like tumors were found.
conclusionsOur finding indicates involvement of hereditary factors in non-BRCA1/2 breast cancer families in which family members may carry genetic susceptibility not just to breast cancer but to a particular subtype of breast cancer. This is the first study to provide a biological link between breast cancers from family members of high-risk non-BRCA1/2 families in a systematic manner, suggesting that future genetic analysis may benefit from subgrouping families into molecularly homogeneous subtypes in order to search for new high penetrance susceptibility genes.
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