ArticleGenetics and molecular biology2009
Genomic rearrangements in BRCA1 and BRCA2: A literature review.
Article in Genetics and molecular biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.Breast cancer research and treatment · 2015Pooled it
- Next-generation sequencing-based characterization of BRCA1/2 variants across multiple tumor types in Vietnamese patients.BMC cancer · 2026Article
- The role of Alu elements in causing BRCA1 structural variation and breast cancer susceptibility.Genes & genomics · 2026Review
- Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer.Journal of human genetics · 2025Article
- Article
- Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population.Breast cancer research and treatment · 2025Article
- Assessment ofJCO clinical cancer informatics · 2024Article
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer.Journal of human genetics · 2023Article
- BRCA Mutations-The Achilles Heel of Breast, Ovarian and Other Epithelial Cancers.International journal of molecular sciences · 2023Review
- Characterization of BRCA Deficiency in Ovarian Cancer.Cancers · 2023Article
- A MALDI-TOF mass spectrometry-based method for detection of copy number variations inFrontiers in molecular biosciences · 2023Article
- Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification ofAnnals of laboratory medicine · 2022Article
- Rare germline copy number variants (CNVs) and breast cancer risk.Communications biology · 2022Article
- Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.Frontiers in genetics · 2022Article
- Next-generation sequencing based detection ofFrontiers in oncology · 2022Article
- Detection of Structural Variations and Fusion Genes in Breast Cancer Samples Using Third-Generation Sequencing.Frontiers in cell and developmental biology · 2022Article
- Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.Breast cancer (Tokyo, Japan) · 2021Review
- 5' Region Large Genomic Rearrangements in theCancers · 2021Article
- Circulating Tumor DNA Testing for Homology Recombination Repair Genes in Prostate Cancer: From the Lab to the Clinic.International journal of molecular sciences · 2021Review
Corrections and comments
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6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some high-risk families are due to the presence of intragenic rearrangements such as deletions, duplications or insertions that span whole exons. This article reviews the molecular aspects of BRCA1 and BRCA2 rearrangements and their frequency among different populations. An overview of the techniques used to screen for large rearrangements in BRCA1 and BRCA2 is also presented. The detection of rearrangements in BRCA genes, especially BRCA1, offers a promising outlook for mutation screening in clinical practice, particularly in HBOC families that test negative for a germline mutation assessed by traditional methods.
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