ArticleAmerican journal of human genetics2012
Rare mutations in XRCC2 increase the risk of breast cancer.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 2 of them syntheses that pooled it.
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Who cites it
107 citing papers in PubMed, 2 syntheses or guidelines pooled it, 180 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- The Arg188His polymorphism in the XRCC2 gene and the risk of cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Genomic landscape of ERCC alterations in breast and gynecological cancers: implications for targeted therapy and VUS reclassification.Molecular biology reports · 2026Article
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- Structural insight into how RAD51 paralog exchange regulates RAD51 filament formation.Nature structural & molecular biology · 2026Article
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.Journal of translational medicine · 2025Article
- Bioinformatics Combined With Biological Experiments to Identify the Pathogenetic Link of Type 2 Diabetes for Breast Cancer.Cancer medicine · 2025Article
- Mechanism of BCDX2-mediated RAD51 nucleation on short ssDNA stretches and fork DNA.Nucleic acids research · 2024Article
- Diagnostic Accuracy of Cancer Antigen 15-3 as a Seromarker Among Recurrent Breast Carcinoma in Bangladesh.Cureus · 2024Article
- Clinico-genomic findings, molecular docking, and mutational spectrum in an understudied population with breast cancer patients from KP, Pakistan.Frontiers in genetics · 2024Article
- RAD51 paralogs synergize with RAD51 to protect reversed forks from cellular nucleases.Nucleic acids research · 2023Article
- Article
- TheGenes · 2023Article
- Anti-Cancer Potential of Edible/Medicinal Mushrooms in Breast Cancer.International journal of molecular sciences · 2023Review
- Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.Journal of the National Cancer Institute · 2023Article
- A Novel Attention-Mechanism Based Cox Survival Model by Exploiting Pan-Cancer Empirical Genomic Information.Cells · 2022Article
- Therapeutic implications of germline vulnerabilities in DNA repair for precision oncology.Cancer treatment reviews · 2022Review
- Identification and Validation of a DNA Damage Repair-Related Signature for Diffuse Large B-Cell Lymphoma.BioMed research international · 2022Article
- XRCC2 reduced the sensitivity of NSCLC to radio-chemotherapy by arresting the cell cycle.American journal of translational research · 2022Article
47 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 13 institutions in 6 countries.
Funding
Abstract
An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutations, one with a protein-truncating mutation and one with a probably deleterious missense mutation. We performed a population-based case-control mutation-screening study that identified six probably pathogenic coding variants in 1,308 cases with early-onset breast cancer and no variants in 1,120 controls (the severity grading was p < 0.02). We also performed additional mutation screening in 689 multiple-case families. We identified ten breast-cancer-affected families with protein-truncating or probably deleterious rare missense variants in XRCC2. Our identification of XRCC2 as a breast cancer susceptibility gene thus increases the proportion of breast cancers that are associated with homologous recombination-DNA-repair dysfunction and Fanconi anemia and could therefore benefit from specific targeted treatments such as PARP (poly ADP ribose polymerase) inhibitors. This study demonstrates the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases.
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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.