ArticleAmerican journal of cancer research2015
DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.
Article in American journal of cancer research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.Journal of human genetics · 2018Trial
- Non-BRCA germline pathogenic variants and response to neoadjuvant systemic therapy in triple-negative breast cancer patients enrolled in a prospective clinical trial.Breast cancer research and treatment · 2026Article
- Comprehensive RAD51C ovarian cancer variant analysis uncouples homologous recombination and replicative functions.Nature communications · 2025Article
- Management of PALB2-associated breast cancer: A literature review and case report.Clinical case reports · 2023Article
- Homologous recombination-deficient mutation cluster in tumor suppressorProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Review
- Article
- The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.Breast cancer research and treatment · 2021Article
- Article
- Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.Frontiers in oncology · 2020Review
- Low-Dose and Long-Term Olaparib Treatment Sensitizes MDA-MB-231 and SUM1315 Triple-Negative Breast Cancers Spheroids to Fractioned Radiotherapy.Journal of clinical medicine · 2019Article
- RAD51D splice variants and cancer-associated mutations reveal XRCC2 interaction to be critical for homologous recombination.DNA repair · 2019Article
- RAD-ical New Insights into RAD51 Regulation.Genes · 2018Review
- Precision medicine based on tumorigenic signaling pathways for triple-negative breast cancer.Oncology letters · 2018Review
- Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.Molecular biology reports · 2018Article
- Article
- Therapeutic landscape in mutational triple negative breast cancer.Molecular cancer · 2018Review
- Article
- Functional Interaction BetweenFrontiers in genetics · 2018Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Among breast cancers, 10 to 15% of cases would be due to hereditary risk. In these familial cases, mutations in BRCA1 and BRCA2 are found in only 15% to 20%, meaning that new susceptibility genes remain to be found. Triple-negative breast cancers represent 15% of all breast cancers, and are generally aggressive tumours without targeted therapies available. Our hypothesis is that some patients with triple negative breast cancer could share a genetic susceptibility different from other types of breast cancers. We screened 36 candidate genes, using pyrosequencing, in all the 50 triple negative breast cancer patients with familial history of cancer but no BRCA1 or BRCA2 mutation of a population of 3000 families who had consulted for a familial breast cancer between 2005 and 2013. Any mutations were also sequenced in available relatives of cases. Protein expression and loss of heterozygosity were explored in tumours. Seven deleterious mutations in 6 different genes (RAD51D, MRE11A, CHEK2, MLH1, MSH6, PALB2) were observed in one patient each, except the RAD51D mutation found in two cases. Loss of heterozygosity in the tumour was found for 2 of the 7 mutations. Protein expression was absent in tumour tissue for 5 mutations. Taking into consideration a specific subtype of tumour has revealed susceptibility genes, most of them in the homologous recombination DNA repair pathway. This may provide new possibilities for targeted therapies, along with better screening and care of patients.
Indexed as
Identifiers
26328243PMC4548324W2398910960What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.