ArticlePloS one2013
copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- LINE-1 Deregulation in Ovarian Cancer: Implications for Diagnosis, Prognosis, and Therapeutic Targeting.Molecular diagnosis & therapy · 2026Review
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- A genome-wide strategy to identify causes and consequences of retrotransposon expression finds activation by BRCA1 in ovarian cancer.NAR cancer · 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
- Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Article
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.BMC cancer · 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
- Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.Journal of ovarian research · 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
- Whole-exome sequencing of Finnish hereditary breast cancer families.European journal of human genetics : EJHG · 2016Article
- The Role of Constitutional Copy Number Variants in Breast Cancer.Microarrays (Basel, Switzerland) · 2015Review
- No association between single nucleotide polymorphisms in pre-mirnas and the risk of gastric cancer in Chinese population.Iranian journal of basic medical sciences · 2014Article
- Article
- Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.Frontiers in genetics · 2014Review
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited factors predisposing individuals to breast and ovarian cancer are largely unidentified in a majority of families with hereditary breast and ovarian cancer (HBOC). We aimed to identify germline copy number variations (CNVs) contributing to HBOC susceptibility in the Finnish population.
methodsA cohort of 84 HBOC individuals (negative for BRCA1/2-founder mutations and pre-screened for the most common breast cancer genes) and 36 healthy controls were analysed with a genome-wide SNP array. CNV-affecting genes were further studied by Gene Ontology term enrichment, pathway analyses, and database searches to reveal genes with potential for breast and ovarian cancer predisposition. CNVs that were considered to be important were validated and genotyped in 20 additional HBOC individuals (6 CNVs) and in additional healthy controls (5 CNVs) by qPCR.
resultsAn intronic deletion in the EPHA3 receptor tyrosine kinase was enriched in HBOC individuals (12 of 101, 11.9%) compared with controls (27 of 432, 6.3%) (OR = 1.96; P = 0.055). EPHA3 was identified in several enriched molecular functions including receptor activity. Both a novel intronic deletion in the CSMD1 tumor suppressor gene and a homozygous intergenic deletion at 5q15 were identified in 1 of 101 (1.0%) HBOC individuals but were very rare (1 of 436, 0.2% and 1 of 899, 0.1%, respectively) in healthy controls suggesting that these variants confer disease susceptibility.
conclusionThis study reveals new information regarding the germline CNVs that likely contribute to HBOC susceptibility in Finland. This information may be used to facilitate the genetic counselling of HBOC individuals but the preliminary results warrant additional studies of a larger study group.
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