ArticlePLoS genetics2012
Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 36 citations in OpenAlex.
- Determination of copy number variations and affected gene networks in breast cancer.Biomedical reports · 2026Article
- Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort.Exploration of targeted anti-tumor therapy · 2025Article
- Article
- Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.PLoS genetics · 2023Article
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.PloS one · 2021Article
- Studies of lncRNAs in DNA double strand break repair: what is new?Oncotarget · 2017Review
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.Breast cancer research and treatment · 2017Article
- Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development.Journal of molecular medicine (Berlin, Germany) · 2017Article
- Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.Breast cancer research : BCR · 2017Article
- Germline large genomic alterations on 7q in patients with multiple primary cancers.Scientific reports · 2017Article
- Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma.The Journal of investigative dermatology · 2016Article
- ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients.Meta gene · 2016Article
- Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.PLoS genetics · 2016Article
- The Role of Constitutional Copy Number Variants in Breast Cancer.Microarrays (Basel, Switzerland) · 2015Review
- Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.Human genetics · 2015Article
- Recurrent CYP2C19 deletion allele is associated with triple-negative breast cancer.BMC cancer · 2014Article
- CANOES: detecting rare copy number variants from whole exome sequencing data.Nucleic acids research · 2014Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number variants (CNVs) in breast cancer predisposition, high-resolution genome-wide scans were performed on genomic DNA of 103 BRCA1, BRCA2, and PALB2 mutation negative familial breast cancer cases and 128 geographically matched healthy female controls; for replication an independent cohort of 75 similarly mutation negative young breast cancer patients was used. All observed rare variants were confirmed by independent methods. The studied breast cancer cases showed a consistent increase in the frequency of rare CNVs when compared to controls. Furthermore, the biological networks of the disrupted genes differed between the two groups. In familial cases the observed mutations disrupted genes, which were significantly overrepresented in cellular functions related to maintenance of genomic integrity, including DNA double-strand break repair (P = 0.0211). Biological network analysis in the two independent breast cancer cohorts showed that the disrupted genes were closely related to estrogen signaling and TP53 centered tumor suppressor network. These results suggest that rare CNVs represent an alternative source of genetic variation influencing hereditary risk for breast cancer.
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