ArticleAnnals of oncology : official journal of the European Society for Medical Oncology2018
Associations between RAD51D germline mutations and breast cancer risk and survival in BRCA1/2-negative breast cancers.
Article in Annals of oncology : official journal of the European Society for Medical Oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- Meta-analysis of the association between overexpression of RAD51 family genes and prognosis and clinical features in breast cancer.Scientific reports · 2025Pooled it
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- Distinct functions of mammalian RAD51 paralogs in genome maintenance.Biochemical Society transactions · 2026Review
- Impact of germlineMolecular therapy. Oncology · 2026Article
- Article
- Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.Future science OA · 2025Article
- High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer.Clinical epigenetics · 2025Article
- Current trends in breast cancer genetics, risk factors, and screening strategies.Journal of biological methods · 2025Review
- The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome.NAR molecular medicine · 2024Review
- GermlineJournal of personalized medicine · 2024Article
- miR-125 in Breast Cancer Etiopathogenesis: An Emerging Role as a Biomarker in Differential Diagnosis, Regenerative Medicine, and the Challenges of Personalized Medicine.Non-coding RNA · 2024Review
- Review
- Comprehensive review of CRISPR-based gene editing: mechanisms, challenges, and applications in cancer therapy.Molecular cancer · 2024Review
- Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.Genes · 2023Article
- Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China.Frontiers in genetics · 2023Article
- Hereditary breast cancer: syndromes, tumour pathology and molecular testing.Histopathology · 2023Review
- TGFBR1*6A as a modifier of breast cancer risk and progression: advances and future prospects.NPJ breast cancer · 2022Review
- Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report.Hereditary cancer in clinical practice · 2021Article
- The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.Breast cancer research and treatment · 2021Article
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9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: RAD51D is involved in DNA double-strand break repair by homologous recombination and plays an important role in the maintenance of genomic stability. The associations between RAD51D germline mutations and breast cancer risk and survival are not fully elucidated. Patients and methods: RAD51D germline mutations were determined using a multigene panel in 7657 unselected breast cancer patients who were negative for BRCA1/2 germline mutations. The RAD51D recurrent mutation p.K91fs was screened in 7947 healthy controls by Sanger sequencing. Results: A total of 29 cases (0.38%) carried deleterious RAD51D germline mutations among this cohort of 7657 unselected breast cancer patients. The RAD51D recurrent mutation p.K91fs was identified in 18 cases (0.24%) of these 7657 patients. In contrast, the p.K91fs mutation was found in 8 of 7947 healthy controls with a frequency of 0.10%. The RAD51D p.K91fs mutation was significantly associated with increased breast cancer risk in unselected breast cancer [odds ratio = 2.34, 95% confidence interval (CI) 1.02-5.38; P = 0.040]. RAD51D mutation carriers were diagnosed at a younger age (P = 0.006) and were more likely to be triple-negative breast cancer (P = 0.003), estrogen receptor negative (P = 0.005) and high-grade cancers (P = 0.023) than noncarriers. Furthermore, RAD51D mutation carriers had a significantly worse recurrence-free survival [unadjusted hazard ratio (HR) = 3.00, 95% CI 1.56-5.80; P = 0.001] and distant recurrence-free survival (unadjusted HR = 2.54, 95% CI 1.14-5.67; P = 0.023) than noncarriers. Conclusion: The RAD51D recurrent mutation, p.K91fs, confers a moderately increased breast cancer risk, and RAD51D mutation carriers have an unfavorable survival compared with noncarriers.
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