ArticleOncogene2016
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.
Article in Oncogene, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice.Familial cancer · 2019Pooled it
- Case report: a rare BRCA1 de novo variant in a female with breast cancer.Hereditary cancer in clinical practice · 2026Article
- Novel De NovoInternational journal of molecular sciences · 2025Article
- Review
- Case Report: Functional validation of a rare variantFrontiers in oncology · 2025Article
- Case report: Deciphering the clinical significance of a novel partialFrontiers in oncology · 2025Article
- A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.Familial cancer · 2024Article
- Breast Cancer Screening and Prophylactic Mastectomy for High-Risk Women in Romania.Medicina (Kaunas, Lithuania) · 2024Review
- De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?Tumori · 2024Article
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- Double Heterozygosity for Rare Deleterious Variants in theInternational journal of molecular sciences · 2023Article
- A de Novo BRCA1 Pathogenic Variant in a 29-Year-Old Woman with Triple-Negative Breast Cancer.Breast care (Basel, Switzerland) · 2023Article
- Genetic Networks of Alzheimer's Disease, Aging, and Longevity in Humans.International journal of molecular sciences · 2023Article
- Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism inGenes · 2023Article
- A New de novoThe application of clinical genetics · 2023Article
- Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.Hereditary cancer in clinical practice · 2022Article
- BRCA2 deficiency increases sensitivity of medulloblastoma to Olaparib by inhibiting RAD51-mediated DNA damage repair system.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2022Article
- Risk Prediction of Second Primary Malignancies in Primary Early-Stage Ovarian Cancer Survivors: A SEER-Based National Population-Based Cohort Study.Frontiers in oncology · 2022Article
- Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.American journal of human genetics · 2021Article
- The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast cancer.Human cell · 2020Article
Corrections and comments
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Authors and funding
27 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BRCA1 and BRCA2 are the two major genes predisposing to breast and ovarian cancer. Whereas high de novo mutation rates have been demonstrated for several genes, only 11 cases of de novo BRCA1/2 mutations have been reported to date and the BRCA1/2 de novo mutation rate remains unknown. The present study was designed to fill this gap based on a series of 12 805 consecutive unrelated patients diagnosed with breast and/or ovarian cancer who met the inclusion criteria for BRCA1/2 gene analysis according to French guidelines. BRCA1/2 mutations were detected in 1527 (12%) patients, and three BRCA1 mutations and one BRCA2 mutation were de novo. The BRCA1/2 de novo mutation rate was estimated to be 0.3% (0.1%; 0.7%). Although rare, it may be useful to take the possibility of de novo BRCA1/2 mutation into account in genetic counseling of relatives and to improve the understanding of complex family histories of breast and ovarian cancers.
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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.