ArticleBreast cancer research : BCR2012
Germline DNA copy number variation in familial and early-onset breast cancer.
Article in Breast cancer research : BCR, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.Nature communications · 2020Pooled it
- Determination of copy number variations and affected gene networks in breast cancer.Biomedical reports · 2026Article
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- HapCNV: A Comprehensive Framework for CNV Detection in Low-input DNA Sequencing Data.bioRxiv : the preprint server for biology · 2025Article
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- Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.PLoS genetics · 2023Article
- Epidemiological, Clinical, and Genomic Profile in Head and Neck Cancer Patients and Their Families.Biomedicines · 2022Article
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- An Integrative Co-localization (INCO) Analysis for SNV and CNV Genomic Features With an Application to Taiwan Biobank Data.Frontiers in genetics · 2021Article
- Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.PloS one · 2021Article
- An accurate and powerful method for copy number variation detection.Bioinformatics (Oxford, England) · 2019Article
- A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.Journal of neurodevelopmental disorders · 2019Article
- E2F1 germline copy number variations and melanoma susceptibility.Journal of translational medicine · 2019Article
- Article
- Identifying disease-associated copy number variations by a doubly penalized regression model.Biometrics · 2018Article
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.Nature medicine · 2017Article
- The 30 kb deletion in theOncotarget · 2017Article
- Candidate predisposing germline copy number variants in early onset colorectal cancer patients.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2017Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionGenetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as neuroblastomas as well as prostate and colorectal cancer. We evaluated the role of germline CNVs in breast cancer susceptibility, in particular those with low population frequencies (rare CNVs), which are more likely to cause disease."
methodsUsing whole-genome comparative genomic hybridization on microarrays, we screened a cohort of women fulfilling criteria for hereditary breast cancer who did not carry BRCA1/BRCA2 mutations.
resultsThe median numbers of total and rare CNVs per genome were not different between controls and patients. A total of 26 rare germline CNVs were identified in 68 cancer patients, however, a proportion that was significantly different (P = 0.0311) from the control group (23 rare CNVs in 100 individuals). Several of the genes affected by CNV in patients and controls had already been implicated in cancer.
conclusionsThis study is the first to explore the contribution of germline CNVs to BRCA1/2-negative familial and early-onset breast cancer. The data suggest that rare CNVs may contribute to cancer predisposition in this small cohort of patients, and this trend needs to be confirmed in larger population samples.
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