ArticlePloS one2012
Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.
Article in PloS one, 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, 48 citations in OpenAlex.
- Article
- Recent insights into the SWI/SNF complex and the molecular mechanism of hSNF5 deficiency in rhabdoid tumors.Cancer medicine · 2023Review
- GermlineCancers · 2021Article
- rs11046147 mutation in the promoter region of lactate dehydrogenase-B as a potential predictor of prognosis in triple-negative breast cancer.Cancer communications (London, England) · 2020Article
- Clinical significance of bromodomain-containing protein 7 and its association with tumor progression in prostate cancer.Oncology letters · 2019Article
- High-frequency actionable pathogenic exome variants in an average-risk cohort.Cold Spring Harbor molecular case studies · 2018Article
- Article
- Clinicopathological and Molecular Study of Triple-Negative Breast Cancer in Algerian Patients.Pathology oncology research : POR · 2018Article
- Article
- High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.BMC cancer · 2016Article
- Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.Familial cancer · 2016Article
- BRD7 Acts as a Tumor Suppressor Gene in Lung Adenocarcinoma.PloS one · 2016Article
- BRD7: a novel tumor suppressor gene in different cancers.American journal of translational research · 2016Review
- Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer.Journal of cancer research and clinical oncology · 2015Article
- Whole-genome sequencing of a malignant granular cell tumor with metabolic response to pazopanib.Cold Spring Harbor molecular case studies · 2015Article
- Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.Breast cancer research : BCR · 2015Article
- Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population.Oncology letters · 2015Article
- Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives.BioMed research international · 2015Review
- Article
- Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe.Familial cancer · 2014Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Triple-negative breast cancer (TNBC) is an aggressive form of breast carcinoma with a poor prognosis. Recent evidence suggests that some patients with TNBC harbour germ-line mutations in DNA repair genes which may render their tumours susceptible to novel therapies such as treatment with PARP inhibitors. In the present study, we have investigated a hospital-based series of 40 German patients with TNBC for the presence of germ-line mutations in BRCA1, BRCA2, PALB2, and BRD7 genes. Microfluidic array PCR and next-generation sequencing was used for BRCA1 and BRCA2 analysis while conventional high-resolution melting and Sanger sequencing was applied to study the coding regions of PALB2 and BRD7, respectively. Truncating mutations in BRCA1 were found in six patients, and truncating mutations in BRCA2 and PALB2 were detected in one patient each, whereas no truncating mutation was identified in BRD7. One patient was a double heterozygote for the PALB2 mutation, c.758insT, and a BRCA1 mutation, c.927delA. Our results confirm in a hospital-based setting that a substantial proportion of German TNBC patients (17.5%) harbour germ-line mutations in genes involved in homology-directed DNA repair, with a preponderance of BRCA1 mutations. Triple-negative breast cancer should be considered as an additional criterion for future genetic counselling and diagnostic sequencing.
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